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 ZNF141 7700 broad.mit.edu 37 4 366543 366543 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:366543G>C ENST00000240499.7 + 4 466 c.317G>C c.(316-318)tGt>tCt p.C106S ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Missense_Mutation_p.C106S NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 106 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 TATGAGAAATGTGGACATGAT 0.348000 5 44 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80201433 80201433 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:80201433C>A ENST00000392959.1 - 7 1581 c.970G>T c.(970-972)Gat>Tat p.D324Y LCA5_ENST00000369846.4_Missense_Mutation_p.D324Y|LCA5_ENST00000467898.2_Missense_Mutation_p.D324Y NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 324 protein transport cilium axoneme|microtubule basal body protein binding p.D324N(1) haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCTGCAAAATCACTCTGGCAT 0.313000 21 104 1.2644e-06 1.49844e-06 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13735298 13735298 + Silent SNP T T A rs139044537 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:13735298T>A ENST00000265104.4 - 68 11807 c.11703A>T c.(11701-11703)ctA>ctT p.L3901L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3901 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTCAATCTTTAGGGTAAGCA 0.438000 Kartagener syndrome 40 66 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26586262 26586262 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:26586262A>T ENST00000252992.4 + 7 1441 c.1310A>T c.(1309-1311)cAt>cTt p.H437L CEP85_ENST00000451429.2_Missense_Mutation_p.H386L NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 437 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 TTGCAGAAGCATTCTGAGGAA 0.463000 33 58 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113304867 113304867 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:113304867A>T ENST00000297405.5 - 55 8931 c.8687T>A c.(8686-8688)gTg>gAg p.V2896E CSMD3_ENST00000352409.3_Missense_Mutation_p.V2826E|CSMD3_ENST00000343508.3_Missense_Mutation_p.V2856E|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2727E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2896 Sushi 19. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAATGTTACCACATCATTAAA 0.463000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 82 0 0 1 0 0 ATL3 25923 broad.mit.edu 37 11 63396867 63396867 + Missense_Mutation SNP T T C rs142132706 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:63396867T>C ENST00000398868.3 - 13 1826 c.1550A>G c.(1549-1551)cAt>cGt p.H517R ATL3_ENST00000332645.4_Missense_Mutation_p.H544R|ATL3_ENST00000538786.1_Missense_Mutation_p.H499R NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 517 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 ATTACCGATATGAGAAGAAGC 0.368000 8 51 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101582158 101582158 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:101582158G>T ENST00000335681.5 + 10 1122 c.837G>T c.(835-837)gtG>gtT p.V279V NPAS2_ENST00000542504.1_Silent_p.V344V NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 279 PAS 2. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTTTGAAGTGCTGGGAACCT 0.577000 14 114 3.27435e-08 4.10752e-08 1 1 0 MAB21L1 4081 broad.mit.edu 37 13 36049841 36049841 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:36049841G>A ENST00000379919.4 - 1 991 c.435C>T c.(433-435)taC>taT p.Y145Y NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 145 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CCACATCCCGGTAGCTACATT 0.552000 22 36 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409484 56409484 + Silent SNP C C A rs144441226 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:56409484C>A ENST00000544374.1 - 1 463 c.435G>T c.(433-435)ggG>ggT p.G145G OR5AP2_ENST00000302981.1_Silent_p.G144G Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AGCAAATTCTCCCAGACACGA 0.488000 15 58 2.32078e-09 2.99515e-09 1 1 0 CLUL1 27098 broad.mit.edu 37 18 644961 644961 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:644961A>C ENST00000581619.1 + 8 2183 c.1336A>C c.(1336-1338)Atg>Ctg p.M446L CLUL1_ENST00000338387.7_Missense_Mutation_p.M421L|CLUL1_ENST00000579494.1_Missense_Mutation_p.M421L|CLUL1_ENST00000540035.1_Missense_Mutation_p.M473L|CLUL1_ENST00000400606.2_Missense_Mutation_p.M421L|C18orf56_ENST00000585033.1_Intron Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 421 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 TGAAACAATGATGACAGACTT 0.373000 5 59 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31327898 31327898 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:31327898G>T ENST00000597505.1 - 3 471 c.472C>A c.(472-474)Cgg>Agg p.R158R DCDC1_ENST00000452803.1_Silent_p.R158R|RP1-296L11.1_ENST00000528872.1_RNA P59894 DCDC1_HUMAN doublecortin domain containing 1 158 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TGCCAATTCCGGGCTGACTGA 0.338000 4 31 1 1 1 1 0 BRWD3 254065 broad.mit.edu 37 X 79932441 79932441 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:79932441C>A ENST00000373275.4 - 41 5292 c.5076G>T c.(5074-5076)agG>agT p.R1692S NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1692 Gly-rich. breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 tccctcgtcccctgcctcctc 0.572000 55 56 3.76997e-23 5.64922e-23 1 1 0 SOX13 9580 broad.mit.edu 37 1 204085650 204085650 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:204085650T>G ENST00000367204.1 + 5 543 c.434T>G c.(433-435)cTa>cGa p.L145R SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 145 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CAAGAGAGCCTAGCAGAGAAG 0.527000 9 73 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126544083 126544083 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:126544083G>C ENST00000339582.2 - 5 1769 c.961C>G c.(961-963)Caa>Gaa p.Q321E GRM8_ENST00000444921.2_Missense_Mutation_p.Q321E|GRM8_ENST00000405249.1_Missense_Mutation_p.Q321E|GRM8_ENST00000358373.3_Missense_Mutation_p.Q321E|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 321 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ATCTCCTCTTGCTGATAGACA 0.418000 HNSCC(24;0.065) 85 64 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389633 20389633 + Silent SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:20389633A>C ENST00000315915.4 + 1 893 c.868A>C c.(868-870)Agg>Cgg p.R290R NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTATACACTAAGGAATAGGGA 0.403000 29 216 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39262919 39262919 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:39262919C>T ENST00000280481.7 + 1 1654 c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 480 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) AGAAGCAGTGCGGCTAGAGGT 0.582000 12 46 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50148391 50148391 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:50148391G>A ENST00000360565.3 + 2 232 c.108_splice c.e2+1 p.L36_splice NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 36 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCTTTATCCTGGTGAGGCTGC 0.632000 14 27 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167827 161167827 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:161167827C>A ENST00000367996.4 - 1 1019 c.591G>T c.(589-591)aaG>aaT p.K197N ADAMTS4_ENST00000367995.3_Missense_Mutation_p.K197N NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 197 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CAAGAGGAGCCTTGACGTTGC 0.632000 12 87 0.0135373 0.0140355 1 1 0 FGD6 55785 broad.mit.edu 37 12 95602758 95602758 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:95602758C>G ENST00000343958.4 - 2 2525 c.2302G>C c.(2302-2304)Gct>Cct p.A768P FGD6_ENST00000546711.1_Missense_Mutation_p.A768P|FGD6_ENST00000549499.1_Missense_Mutation_p.A768P NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 768 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TTCCGTATAGCCATAATAAAT 0.448000 15 79 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89600224 89600224 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:89600224C>A ENST00000369485.4 - 8 1072 c.886G>T c.(886-888)Gat>Tat p.D296Y RNGTT_ENST00000369475.3_Missense_Mutation_p.D296Y|RNGTT_ENST00000265607.6_Missense_Mutation_p.D296Y|RNGTT_ENST00000538899.1_Missense_Mutation_p.D236Y NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 296 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CGAGTACCATCTGCTTTCCAG 0.353000 10 31 0.000442599 0.00048115 1 1 0 RABEP2 79874 broad.mit.edu 37 16 28922245 28922245 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:28922245G>A ENST00000358201.4 - 7 1641 c.1053C>T c.(1051-1053)acC>acT p.T351T RABEP2_ENST00000357573.6_Silent_p.T319T|RABEP2_ENST00000544477.1_Silent_p.T280T NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 351 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTGGCTCACGGTCCCTTGCA 0.652000 11 69 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30862919 30862919 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:30862919A>G ENST00000251071.5 - 18 4051 c.3301T>C c.(3301-3303)Tgg>Cgg p.W1101R CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W1051R|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W767R NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 1101 C1q. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AGACGTAACCATATCTGGTCT 0.428000 28 97 0 0 1 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652031 115652031 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:115652031C>T ENST00000374228.4 - 1 1162 c.931G>A c.(931-933)Gag>Aag p.E311K NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 311 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 CCGAGAGGCTCCCTCAGCACA 0.552000 17 30 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027691 161027691 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:161027691C>A ENST00000447678.1 - 18 2724 c.e18-1 LPA_ENST00000316300.5_Splice_Site NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GATCAAGCCACTGGAAATTCC 0.512000 19 160 4.96729e-08 6.19184e-08 1 1 0 OR8K1 390157 broad.mit.edu 37 11 56113853 56113853 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:56113853C>A ENST00000279783.2 + 1 433 c.339C>A c.(337-339)ttC>ttA p.F113L NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TTGAGATTTTCATCATCTCTG 0.408000 HNSCC(65;0.19) 27 160 7.92952e-12 1.07545e-11 1 1 0 INPP5B 3633 broad.mit.edu 37 1 38397646 38397646 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:38397646T>A ENST00000373023.2 - 7 564 c.471A>T c.(469-471)ccA>ccT p.P157P INPP5B_ENST00000373021.1_Silent_p.P157P|INPP5B_ENST00000373024.3_Silent_p.P157P|INPP5B_ENST00000373026.1_Silent_p.P157P NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 157 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGCGCGGCGTTGGCATCTCCA 0.607000 9 81 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 15995667 15995667 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:15995667G>T ENST00000505450.1 - 15 2295 c.1683C>A c.(1681-1683)taC>taA p.Y561* PROM1_ENST00000540805.1_Nonsense_Mutation_p.Y570*|PROM1_ENST00000447510.2_Nonsense_Mutation_p.Y570*|PROM1_ENST00000508167.1_Nonsense_Mutation_p.Y561*|PROM1_ENST00000510224.1_Nonsense_Mutation_p.Y570*|PROM1_ENST00000543373.1_Nonsense_Mutation_p.Y561*|PROM1_ENST00000539194.1_Nonsense_Mutation_p.Y570* NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 570 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 GAAGAGTGCCGTAAGTGCCTC 0.418000 9 55 0.000274275 0.000299485 1 1 0 GRM3 2913 broad.mit.edu 37 7 86415744 86415744 + Nonsense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:86415744C>G ENST00000361669.2 + 3 1735 c.636C>G c.(634-636)taC>taG p.Y212* GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Nonsense_Mutation_p.Y210*|GRM3_ENST00000439827.1_Nonsense_Mutation_p.Y212*|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Nonsense_Mutation_p.Y84*|AC005009.2_ENST00000452471.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 212 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACTGGACCTACGTGTCCACAG 0.587000 19 121 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150948476 150948476 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:150948476A>T ENST00000261800.5 - 1 29 c.17T>A c.(16-18)cTg>cAg p.L6Q NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 6 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCAAAACCCAGCAGGGCAAT 0.473000 14 47 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811206 5811206 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:5811206G>T ENST00000381095.3 - 6 2730 c.2103C>A c.(2101-2103)gaC>gaA p.D701E NLGN4X_ENST00000381092.1_Missense_Mutation_p.D701E|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D701E|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D721E|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D701E NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 701 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGCGCCTCTTGTCCTTTTTGT 0.507000 22 36 1.10513e-12 1.51975e-12 1 1 0 KIF5A 3798 broad.mit.edu 37 12 57975352 57975352 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:57975352G>T ENST00000455537.2 + 25 3183 c.e25+1 KIF5A_ENST00000286452.5_Splice_Site NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 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 CAGATATGTAGTGAGTGACCA 0.542000 10 78 3.07112e-06 3.59634e-06 1 1 0 ABCA2 20 broad.mit.edu 37 9 139907980 139907980 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:139907980A>T ENST00000265662.5 - 29 4630 c.4483T>A c.(4483-4485)Tac>Aac p.Y1495N ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1495N|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1494N Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1494 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TAGTTGTGGTACTGGGAAGGT 0.682000 3 7 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87214952 87214952 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:87214952T>A ENST00000265724.3 - 5 579 c.162A>T c.(160-162)ggA>ggT p.G54G ABCB1_ENST00000543898.1_Silent_p.G54G NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 54 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAGCCAAAGTTCCCACCACCA 0.393000 5 39 0 0 1 0 0 KIAA0020 9933 broad.mit.edu 37 9 2810388 2810388 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:2810388C>A ENST00000397885.2 - 16 1885 c.1679G>T c.(1678-1680)tGg>tTg p.W560L NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 560 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTCTATTAACCACTTCAGAAC 0.343000 9 30 0.000673444 0.0007257 1 1 0 COL27A1 85301 broad.mit.edu 37 9 117002713 117002713 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:117002713G>T ENST00000356083.3 + 21 3172 c.e21-1 NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTTCTCCCCAGGGTAAGCCTG 0.667000 63 94 8.70598e-44 1.34547e-43 1 1 0 POU6F2 11281 broad.mit.edu 37 7 39243895 39243895 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:39243895G>T ENST00000518318.2 + 3 294 c.252G>T c.(250-252)caG>caT p.Q84H POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q84H|POU6F2_ENST00000559001.1_Missense_Mutation_p.Q76H P78424 PO6F2_HUMAN POU class 6 homeobox 2 84 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGCCAGTCAGACCCACCCCC 0.468000 5 38 0.014758 0.0152052 1 1 0 ITPR1 3708 broad.mit.edu 37 3 4715045 4715045 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:4715045G>T ENST00000302640.8 + 20 2735 c.2385G>T c.(2383-2385)gaG>gaT p.E795D ITPR1_ENST00000443694.2_Missense_Mutation_p.E795D|ITPR1_ENST00000423119.2_Missense_Mutation_p.E810D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E810D|ITPR1_ENST00000456211.2_Missense_Mutation_p.E795D|ITPR1_ENST00000357086.4_Missense_Mutation_p.E810D|ITPR1_ENST00000544951.1_Intron NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 810 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCTGGTCGGAGATTCCCTCGG 0.542000 16 114 6.49762e-13 8.94784e-13 1 1 0 BSX 390259 broad.mit.edu 37 11 122850143 122850143 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:122850143G>T ENST00000343035.2 - 2 333 c.285C>A c.(283-285)ttC>ttA p.F95L NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 95 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GCGGGTGCGGGAACAGCGCTG 0.677000 6 69 3.59834e-05 4.04556e-05 1 1 0 SMAGP 57228 broad.mit.edu 37 12 51639796 51639796 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:51639796C>T ENST00000603798.1 - 4 895 c.223G>A c.(223-225)Gag>Aag p.E75K DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000398453.3_Missense_Mutation_p.E75K|SMAGP_ENST00000605627.1_Missense_Mutation_p.E61K|SMAGP_ENST00000603864.1_Missense_Mutation_p.E75K NM_001031628.1 NP_001026798.1 Q0VAQ4 SMAGP_HUMAN small cell adhesion glycoprotein 75 cytoplasmic vesicle membrane|integral to membrane|plasma membrane GCACTGGGCTCACCTTCTGTA 0.507000 13 86 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72667125 72667125 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:72667125G>A ENST00000261180.4 + 1 663 c.567G>A c.(565-567)gtG>gtA p.V189V TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 189 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GAGTGGCGGTGGAGAAAGTGC 0.612000 19 110 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21099998 21099998 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:21099998C>A ENST00000312239.5 - 5 595 c.456G>T c.(454-456)ccG>ccT p.P152P HP1BP3_ENST00000375003.2_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 152 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) AAGAAGCCATCGGTGTTTGTT 0.418000 10 58 9.70103e-10 1.25858e-09 1 1 0 PDLIM3 27295 broad.mit.edu 37 4 186425735 186425735 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:186425735G>C ENST00000284770.5 - 7 872 c.799C>G c.(799-801)Cgt>Ggt p.R267G PDLIM3_ENST00000284771.6_Missense_Mutation_p.R219G|PDLIM3_ENST00000284767.5_3'UTR NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 267 sarcomere zinc ion binding breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CCAGCCGGACGGTCATCTGAA 0.537000 17 30 0 0 1 0 0 PAK1 5058 broad.mit.edu 37 11 77090368 77090368 + Silent SNP T T C rs115947709 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:77090368T>C ENST00000356341.3 - 4 888 c.357A>G c.(355-357)aaA>aaG p.K119K PAK1_ENST00000530617.1_Silent_p.K119K|PAK1_ENST00000528203.1_Silent_p.K21K|PAK1_ENST00000278568.4_Silent_p.K119K NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 119 Autoregulatory region. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) CCTGCGGGTTTTTCTTCTGCT 0.473000 9 96 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85694872 85694872 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:85694872C>G ENST00000253458.7 + 9 1937 c.1761C>G c.(1759-1761)ccC>ccG p.P587P GSE1_ENST00000405402.2_Silent_p.P483P|GSE1_ENST00000393243.1_Silent_p.P514P NM_014615.2 NP_055430.1 Gse1 coiled-coil protein TCTGGAACCCCGTGTCCCTGA 0.677000 20 84 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58480264 58480264 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:58480264G>T ENST00000344743.3 - 4 426 c.285C>A c.(283-285)ctC>ctA p.L95L GLYAT_ENST00000529732.1_Silent_p.L95L|GLYAT_ENST00000278400.3_Silent_p.L95L NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 95 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TCCAGTTGATGAGTTCTGGTG 0.388000 11 58 5.50884e-06 6.36778e-06 1 1 0 KLHL2 11275 broad.mit.edu 37 4 166235212 166235212 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:166235212A>T ENST00000226725.6 + 13 1762 c.1503A>T c.(1501-1503)gtA>gtT p.V501V KLHL2_ENST00000506761.1_Silent_p.V335V|KLHL2_ENST00000421009.2_Silent_p.V404V|KLHL2_ENST00000538127.1_Silent_p.V413V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.V505V NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 501 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TGTATGCTGTAGGAGGTCATG 0.378000 26 123 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130739 52130739 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:52130739T>A ENST00000222107.4 - 6 1396 c.1258A>T c.(1258-1260)Agc>Tgc p.S420C SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S420C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S420C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S420C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S420C O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 420 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) ACAGAGCCGCTCTGGGACCCA 0.642000 49 96 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83867567 83867567 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:83867567T>A ENST00000340417.3 - 5 1389 c.1012A>T c.(1012-1014)Aca>Tca p.T338S LIN54_ENST00000505397.1_Missense_Mutation_p.T338S|LIN54_ENST00000510557.1_Missense_Mutation_p.T117S|LIN54_ENST00000442461.2_Missense_Mutation_p.T117S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000446851.2_Missense_Mutation_p.T117S|LIN54_ENST00000395283.2_Missense_Mutation_p.T249S|LIN54_ENST00000506560.1_Missense_Mutation_p.T249S NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 338 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) GGAATAATTGTCTTAAACTGT 0.443000 12 99 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021089 46021089 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:46021089C>A ENST00000380102.2 + 1 593 c.568C>A c.(568-570)Ccc>Acc p.P190T TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 190 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 TGTGTCCAGCCCCTGCTGCCA 0.642000 13 132 6.49762e-13 8.94784e-13 1 1 0 BMP15 9210 broad.mit.edu 37 X 50654045 50654045 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:50654045C>A ENST00000252677.3 + 1 262 c.262C>A c.(262-264)Cgc>Agc p.R88S NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 88 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TAGAGAGAACCGCACCATTGG 0.597000 2 6 0.004672 0.00490585 1 1 0 ZNF134 7693 broad.mit.edu 37 19 58131686 58131686 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:58131686G>T ENST00000396161.5 + 3 509 c.199G>T c.(199-201)Gaa>Taa p.E67* ZNF134_ENST00000597975.1_3'UTR NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 67 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GCACCTGGATGAACACCAGGG 0.478000 10 105 0.00829132 0.00866021 1 1 0 LUZP4 51213 broad.mit.edu 37 X 114537984 114537984 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:114537984G>A ENST00000371920.3 + 3 349 c.e3+1 LUZP4_ENST00000451986.2_Intron NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 AATTGAGCAGGTAGATAAGTA 0.323000 13 47 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60491190 60491190 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:60491190C>T ENST00000450662.2 + 11 1192 c.1121C>T c.(1120-1122)gCc>gTc p.A374V EFCAB3_ENST00000305286.3_Missense_Mutation_p.A322V NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 322 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TGTACAGTGGCCGATGCAACT 0.378000 10 65 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79263600 79263600 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:79263600G>A ENST00000374759.3 - 2 491 c.108C>T c.(106-108)atC>atT p.I36I SLC38A10_ENST00000288439.5_Silent_p.I36I NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 36 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCCCCAGGACGATGCCGCACT 0.617000 4 18 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6093376 6093376 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:6093376C>T ENST00000400104.3 - 15 1551 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K L3MBTL4_ENST00000535782.1_Missense_Mutation_p.E264K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E451K|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.E451K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E451K Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 451 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TTCACCTTTTCATGTTTTCCA 0.338000 10 73 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811208 23811208 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:23811208C>A ENST00000314520.3 + 1 755 c.279C>A c.(277-279)ggC>ggA p.G93G MKRN3_ENST00000564592.1_Silent_p.G93G|MKRN3_ENST00000568252.1_Silent_p.G93G NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 93 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAAGCAGCGGCATTTGGACAA 0.597000 11 61 1.08611e-07 1.33197e-07 1 1 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89084372 89084372 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:89084372C>T ENST00000393525.3 + 0 740 CTTCTCTTCCCCGAATAaatc 0.423000 3 3 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966167 41966167 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:41966167C>G ENST00000298919.7 + 10 1194 c.804_splice c.e10-1 p.P269_splice PDZRN4_ENST00000402685.2_Splice_Site_p.P529_splice|PDZRN4_ENST00000539469.2_Splice_Site_p.P271_splice Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 529 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTTTCTTAGCCAAAAAAGCAA 0.358000 8 54 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538569 27538569 + RNA SNP G G A rs11015624 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:27538569G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CAGGTCCAAAGGTTGAACTGT 0.478000 10 187 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15107592 15107592 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:15107592T>C ENST00000378217.3 + 7 758 c.571T>C c.(571-573)Tgg>Cgg p.W191R OLAH_ENST00000378228.3_Missense_Mutation_p.W138R|OLAH_ENST00000485251.1_3'UTR NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 138 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 GTCAAAGGCCTGGCATCGCAT 0.398000 12 31 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43155093 43155093 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:43155093G>T ENST00000252050.4 + 6 1581 c.1497G>T c.(1495-1497)tgG>tgT p.W499C CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Missense_Mutation_p.W499C NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 499 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGGCTGAATGGTGGGAGCTGC 0.488000 13 118 7.93312e-07 9.43553e-07 1 1 0 DUOX2 50506 broad.mit.edu 37 15 45389463 45389463 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:45389463C>T ENST00000389039.6 - 29 4205 c.3820G>A c.(3820-3822)Gtg>Atg p.V1274M DUOX2_ENST00000603300.1_Missense_Mutation_p.V1274M Q9NRD8 DUOX2_HUMAN dual oxidase 2 1274 FAD-binding FR-type. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCCTTCACCACGCTGATCTCC 0.587000 18 76 0 0 1 0 0 LGALS14 56891 broad.mit.edu 37 19 40197922 40197922 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:40197922G>T ENST00000392052.3 + 3 420 c.197G>T c.(196-198)aGt>aTt p.S66I LGALS14_ENST00000360675.3_Missense_Mutation_p.S95I NM_020129.2 NP_064514.1 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 66 Galectin. nucleus sugar binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2) 14 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) ATCATGAACAGTTGTGTGTTT 0.443000 120 134 3.18757e-65 4.93398e-65 1 1 0 C1orf168 199920 broad.mit.edu 37 1 57192183 57192183 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:57192183C>A ENST00000343433.6 - 16 1947 c.1867G>T c.(1867-1869)Gaa>Taa p.E623* NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 623 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTGATTCTTCAGCACCGTTT 0.378000 13 53 1.49906e-05 1.70875e-05 1 1 0 RAD51 5888 broad.mit.edu 37 15 40990990 40990990 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:40990990G>C ENST00000267868.3 + 2 302 c.34G>C c.(34-36)Gat>Cat p.D12H RAD51_ENST00000382643.3_Missense_Mutation_p.D12H|RAD51_ENST00000423169.2_Missense_Mutation_p.D12H|RAD51_ENST00000557850.1_Missense_Mutation_p.D12H|RAD51_ENST00000532743.1_Missense_Mutation_p.D12H NM_002875.4 NP_002866.2 Q06609 RAD51_HUMAN RAD51 recombinase 12 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) AGCAAATGCAGATACTTCAGT 0.378000 Homologous recombination 7 60 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156824049 156824049 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:156824049C>A ENST00000368195.3 - 2 528 c.132G>T c.(130-132)caG>caT p.Q44H NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 44 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGTTCTCCAGCTGACGAAGCT 0.622000 6 48 3.59834e-05 4.04556e-05 1 1 0 DNAH17 8632 broad.mit.edu 37 17 76487572 76487572 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:76487572C>G ENST00000389840.5 - 43 6704 c.6580G>C c.(6580-6582)Gac>Cac p.D2194H RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D2203H dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CACATGGGGTCTATGTCTCCG 0.592000 4 14 0 0 1 0 0 OR2W5 441932 broad.mit.edu 37 1 247655050 247655050 + RNA SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:247655050T>A ENST00000522351.1 + 0 681 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GTGGCTCTCCTCCTGGTGCCG 0.567000 23 132 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232941054 232941054 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:232941054C>G ENST00000418460.1 + 1 412 c.285C>G c.(283-285)caC>caG p.H95Q NM_019090.2 NP_061963.2 microtubule-associated protein 10 AAAGCAGACACCGCCCGAGAC 0.537000 15 99 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41381976 41381976 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:41381976G>T ENST00000377801.3 - 2 838 c.764C>A c.(763-765)aCt>aAt p.T255N PLCXD3_ENST00000328457.3_Missense_Mutation_p.T255N Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 255 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TTTGACCACAGTGCTAGCTTT 0.433000 27 114 1.17739e-12 1.61237e-12 1 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798643 55798643 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:55798643T>A ENST00000313555.1 + 1 749 c.749T>A c.(748-750)tTa>tAa p.L250* NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GCAGTCACCTTATTCTATGGA 0.458000 14 79 0 0 1 0 0 CSNK1D 1453 broad.mit.edu 37 17 80231184 80231184 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:80231184A>G ENST00000314028.6 - 1 423 c.74T>C c.(73-75)cTc>cCc p.L25P CSNK1D_ENST00000398519.5_Missense_Mutation_p.L25P|CSNK1D_ENST00000392334.2_Missense_Mutation_p.L25P NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 25 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) ggccTCACCGAGATAGATGTC 0.731000 5 25 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181480507 181480507 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:181480507G>T ENST00000526775.1 + 3 538 c.372_splice c.e3-1 p.E125_splice CACNA1E_ENST00000357570.5_Splice_Site_p.E76_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.E76_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.E125_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.E125_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.E125_splice|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 125 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATCCCCACAGGAGAAGACAGA 0.507000 36 240 9.04072e-19 1.32454e-18 1 1 0 CARD6 84674 broad.mit.edu 37 5 40843532 40843532 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:40843532C>A ENST00000254691.5 + 2 761 c.562C>A c.(562-564)Cca>Aca p.P188T CARD6_ENST00000381677.3_Missense_Mutation_p.P188T NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 188 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ATGTGAAGTTCCAGCAACTAT 0.373000 12 55 3.07112e-06 3.59634e-06 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89499488 89499488 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:89499488C>A ENST00000336596.2 + 15 2883 c.2658C>A c.(2656-2658)ggC>ggA p.G886G EPHA3_ENST00000494014.1_Silent_p.G886G NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 886 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GGAATCCCGGCAGCCTGAAGA 0.448000 TSP Lung(6;0.00050) 7 80 2.7689e-08 3.49569e-08 1 1 0 RANBP2 5903 broad.mit.edu 37 2 109383078 109383078 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:109383078G>C ENST00000283195.6 + 20 6209 c.6083G>C c.(6082-6084)gGa>gCa p.G2028A NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2028 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTGTAACAGGAGAAGAAGAT 0.393000 93 436 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26536638 26536638 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:26536638G>C ENST00000333478.6 - 5 1251 c.669C>G c.(667-669)acC>acG p.T223T GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.T25T|GPR113_ENST00000311519.1_Silent_p.T422T|GPR113_ENST00000421160.2_Silent_p.T353T NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 422 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGGATGATGGTGATGGAGA 0.652000 8 49 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38763885 38763885 + Missense_Mutation SNP G G A rs143208505 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:38763885G>A ENST00000449082.2 - 19 3370 c.3371C>T c.(3370-3372)cCc>cTc p.P1124L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1124 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTTGCAGCAGGGACAGTGGCG 0.557000 18 98 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059735 248059735 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:248059735C>A ENST00000537741.1 + 3 1104 c.847C>A c.(847-849)Ccc>Acc p.P283T OR2W3_ENST00000360358.3_Missense_Mutation_p.P283T Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 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;0.0319) CATTGTCACCCCCCTCCTCAA 0.507000 40 49 2.87052e-16 4.11984e-16 1 1 0 OASL 8638 broad.mit.edu 37 12 121465410 121465410 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:121465410C>A ENST00000257570.5 - 4 1138 c.868G>T c.(868-870)Gat>Tat p.D290Y OASL_ENST00000339275.5_Intron NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 290 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CTGACACAATCCTCAATGATT 0.458000 9 81 6.71089e-19 9.8613e-19 1 1 0 TOP1MT 116447 broad.mit.edu 37 8 144391652 144391652 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:144391652C>T ENST00000523676.1 - 15 1876 c.1471G>A c.(1471-1473)Gcc>Acc p.A491T TOP1MT_ENST00000519148.1_Missense_Mutation_p.A491T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.A589T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.A491T Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 589 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGAGCCCAGGCGAACCTCTCC 0.517000 16 59 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167134813 167134813 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:167134813C>A ENST00000375387.4 - 15 2697 c.2357G>T c.(2356-2358)gGa>gTa p.G786V SCN9A_ENST00000409435.1_Missense_Mutation_p.G785V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.G786V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G774V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 785 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCAAAGATTCCAGTAAAGAC 0.318000 4 16 0.150653 0.151731 1 1 0 C17orf78 284099 broad.mit.edu 37 17 35733081 35733081 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:35733081C>A ENST00000300618.4 + 1 97 c.47C>A c.(46-48)gCc>gAc p.A16D ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.A16D|ACACA_ENST00000416895.1_Intron NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 16 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) TCCTATGATGCCAACAAGAAA 0.453000 7 38 5.18039e-06 6.03767e-06 1 1 0 BARHL2 343472 broad.mit.edu 37 1 91180090 91180090 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:91180090G>T ENST00000370445.4 - 2 890 c.849C>A c.(847-849)cgC>cgA p.R283R NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 283 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) TCCCTTACCTGCGGTTCTGGT 0.542000 13 150 0.00244969 0.00259441 1 1 0 VPS36 51028 broad.mit.edu 37 13 53010530 53010530 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:53010530T>C ENST00000378060.4 - 4 273 c.246A>G c.(244-246)atA>atG p.I82M VPS36_ENST00000480923.1_5'UTR NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 82 GLUE N-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) GATGAACCACTATTTTGGCAC 0.338000 3 7 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707184 54707184 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:54707184C>A ENST00000545554.1 + 18 4852 c.4852C>A c.(4852-4854)Cct>Act p.P1618T UNC13C_ENST00000260323.11_Missense_Mutation_p.P1618T|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1616T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1618 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) TTTTAGGTTTCCTCAAGAGCT 0.303000 3 22 0.115264 0.117045 1 1 0 ZNF230 7773 broad.mit.edu 37 19 44515430 44515430 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:44515430C>G ENST00000429154.2 + 5 1467 c.1239C>G c.(1237-1239)ctC>ctG p.L413L NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) ATAAGAAACTCCACTGCCGGA 0.438000 14 91 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854096 88854096 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:88854096T>A ENST00000537554.1 - 2 4460 c.898A>T c.(898-900)Aag>Tag p.K300* CNR1_ENST00000535130.1_Nonsense_Mutation_p.K300*|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Nonsense_Mutation_p.K300*|CNR1_ENST00000369501.2_Nonsense_Mutation_p.K300*|CNR1_ENST00000549716.1_Nonsense_Mutation_p.K239*|CNR1_ENST00000468898.1_Nonsense_Mutation_p.K267*|CNR1_ENST00000549890.1_Nonsense_Mutation_p.K300*|CNR1_ENST00000369499.2_Nonsense_Mutation_p.K300* NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 300 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTGTGAGCCTTCCAGAGAATA 0.527000 37 77 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46511435 46511435 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:46511435C>T ENST00000263284.2 + 6 598 c.598C>T c.(598-600)Cca>Tca p.P200S CCDC61_ENST00000594087.1_Missense_Mutation_p.P143S|CCDC61_ENST00000595358.1_Missense_Mutation_p.P143S|CCDC61_ENST00000536603.1_Missense_Mutation_p.P143S coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) CCAGGGCAAGCCAGACCCCGT 0.607000 8 18 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152806852 152806852 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:152806852A>T ENST00000370186.1 + 3 570 c.244A>T c.(244-246)Agg>Tgg p.R82W ATP2B3_ENST00000359149.3_Missense_Mutation_p.R82W|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R82W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R82W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R82W|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R82W Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 82 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGAAGCGCAGGCAGATCTA 0.622000 13 22 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104070561 104070561 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:104070561T>A ENST00000265148.3 - 27 3490 c.3401A>T c.(3400-3402)cAg>cTg p.Q1134L CENPE_ENST00000380026.3_Missense_Mutation_p.Q1109L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1134 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.Q1134L(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGGAGTTGCTGGCTCTTAAA 0.289000 5 16 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382571 152382571 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:152382571C>T ENST00000271835.3 - 3 1049 c.987G>A c.(985-987)gaG>gaA p.E329E RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 329 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GACCGTGGATCTCAGTCCCTC 0.602000 152 271 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106791 168106791 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:168106791G>T ENST00000409195.1 + 9 8978 c.8889G>T c.(8887-8889)caG>caT p.Q2963H XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2963H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2741H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2788 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAGTGAAACAGTTTGAAGCAG 0.383000 10 99 1.76689e-08 2.2364e-08 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4854759 4854759 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:4854759G>T ENST00000252318.2 + 5 1362 c.1025G>T c.(1024-1026)tGg>tTg p.W342L NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 342 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCACAAGCCTGGATTGATCTG 0.468000 13 25 4.36969e-10 5.70664e-10 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272350 1272350 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:1272350C>A ENST00000447027.1 + 31 14307 c.14249C>A c.(14248-14250)gCt>gAt p.A4750D MUC5B_ENST00000529681.1_Missense_Mutation_p.A4747D Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4747 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AAATCCACAGCTACCAGCTTT 0.592000 18 65 1.33834e-09 1.72949e-09 1 1 0 SMC3 9126 broad.mit.edu 37 10 112361869 112361869 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:112361869C>T ENST00000361804.4 + 25 3164 c.3038C>T c.(3037-3039)tCa>tTa p.S1013L NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1013 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GGTTACAAATCAATCATGGAA 0.343000 16 58 0 0 1 0 0 LGALS13 29124 broad.mit.edu 37 19 40096020 40096020 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:40096020G>C ENST00000221797.4 + 3 340 c.295G>C c.(295-297)Gag>Cag p.E99Q NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 99 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) ACATTACAATGAGTATGAGGT 0.527000 11 38 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46972992 46972992 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:46972992T>C ENST00000313683.10 - 2 1606 c.1301A>G c.(1300-1302)aAt>aGt p.N434S PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 434 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ATTCTCACCATTGGTGGCACG 0.642000 19 28 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049360 175049360 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:175049360G>T ENST00000239462.4 + 4 959 c.846G>T c.(844-846)tgG>tgT p.W282C NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 282 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGTGAGCTGGGAGCCCTCCA 0.607000 24 36 2.39556e-15 3.39372e-15 1 1 0 KIAA1109 84162 broad.mit.edu 37 4 123277817 123277817 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:123277817G>C ENST00000264501.4 + 84 14915 c.14542G>C c.(14542-14544)Gag>Cag p.E4848Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4848Q Q2LD37 K1109_HUMAN KIAA1109 4848 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGTGGTGACAGAGTTCACTGA 0.358000 12 79 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003664 119003664 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:119003664G>T ENST00000298472.5 + 3 447 c.304G>T c.(304-306)Gcc>Tcc p.A102S SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 102 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) TCATCAGACCGCCACACAGCA 0.507000 13 69 4.3838e-07 5.26483e-07 1 1 0 RASGRP4 115727 broad.mit.edu 37 19 38912679 38912679 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:38912679C>A ENST00000454404.2 - 2 351 c.138G>T c.(136-138)atG>atT p.M46I RASGRP4_ENST00000586305.1_Missense_Mutation_p.M46I|RASGRP4_ENST00000293062.9_Missense_Mutation_p.M46I|RASGRP4_ENST00000426920.2_Missense_Mutation_p.M46I|RASGRP4_ENST00000587753.1_Missense_Mutation_p.M46I|RASGRP4_ENST00000587738.1_Missense_Mutation_p.M46I|RASGRP4_ENST00000433821.2_Missense_Mutation_p.M46I NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 46 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCCCAGGTTCATGGAAGCCA 0.617000 4 32 0.150653 0.151731 1 1 0 PHF20 51230 broad.mit.edu 37 20 34487415 34487415 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:34487415T>A ENST00000374012.3 + 10 1535 c.1406T>A c.(1405-1407)tTg>tAg p.L469* PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 469 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GCCAAACTGTTGCACTATCAC 0.458000 8 43 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634985 70634985 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:70634985G>T ENST00000381269.2 - 2 908 c.155C>A c.(154-156)tCg>tAg p.S52* SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.S52*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.S52*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.S52*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.S52* NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 52 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTTGCAGTCCGATGACCCTGA 0.547000 18 38 6.94344e-10 9.02007e-10 1 1 0 AGAP1 116987 broad.mit.edu 37 2 236817478 236817478 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:236817478G>T ENST00000409538.1 + 11 2543 c.2047G>T c.(2047-2049)Gca>Tca p.A683S AGAP1_ENST00000428334.2_Missense_Mutation_p.A257S|AGAP1_ENST00000336665.5_Missense_Mutation_p.A418S|AGAP1_ENST00000304032.7_Missense_Mutation_p.A418S Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 418 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GTCAGCCTGCGCACCCATCTC 0.493000 12 69 9.05144e-12 1.22424e-11 1 1 0 SERGEF 26297 broad.mit.edu 37 11 18017431 18017431 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:18017431C>G ENST00000265965.5 - 6 685 c.534G>C c.(532-534)ggG>ggC p.G178G SERGEF_ENST00000532265.1_Silent_p.G64G|SERGEF_ENST00000528200.1_Silent_p.G178G NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 178 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CCAAACCAGTCCCCCACTGGA 0.493000 3 23 0 0 1 0 0 MAL 4118 broad.mit.edu 37 2 95691561 95691561 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:95691561G>A ENST00000309988.4 + 1 133 c.24G>A c.(22-24)ggG>ggA p.G8G MAL_ENST00000353004.3_Silent_p.G8G|MAL_ENST00000489399.1_3'UTR|AC103563.8_ENST00000448734.1_RNA|MAL_ENST00000354078.3_Silent_p.G8G|MAL_ENST00000349807.3_Silent_p.G8G NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 8 apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) CGGCGACGGGGGGCAGCACCC 0.697000 6 11 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37186348 37186348 + RNA SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:37186348A>T ENST00000425901.2 + 0 190 NR_033753.2 CTGCGTCCAGAGTCATCAGAA 0.522000 29 51 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101076197 101076197 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:101076197C>T ENST00000360863.6 - 8 993 c.799G>A c.(799-801)Gaa>Aaa p.E267K RGS22_ENST00000523437.1_Missense_Mutation_p.E255K|RGS22_ENST00000523287.1_Missense_Mutation_p.E86K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 267 Poly-Glu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) tcttcAAATTCAGAAATCAAT 0.353000 16 114 0 0 1 0 0 DENND2D 79961 broad.mit.edu 37 1 111743090 111743090 + Translation_Start_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:111743090C>A ENST00000357640.4 - 0 221 DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) ATCTCTGGGCCTTCAGGACAG 0.577000 3 16 1 1 1 1 0 TMCC3 57458 broad.mit.edu 37 12 94975958 94975958 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:94975958C>A ENST00000261226.4 - 2 566 c.435G>T c.(433-435)caG>caT p.Q145H TMCC3_ENST00000551457.1_Missense_Mutation_p.Q114H NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 145 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 AGGCTCCATTCTGCTCGATCT 0.478000 10 77 3.86212e-05 4.31752e-05 1 1 0 FKBP6 8468 broad.mit.edu 37 7 72742683 72742683 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:72742683G>C ENST00000252037.4 + 2 232 c.163G>C c.(163-165)Gct>Cct p.A55P FKBP6_ENST00000431982.2_Missense_Mutation_p.A50P|FKBP6_ENST00000413573.2_Missense_Mutation_p.A55P NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 55 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) GGCGCCTGATGCTTCGGTGCT 0.567000 15 100 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459724 141459724 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:141459724G>C ENST00000389484.3 - 39 7259 c.6288C>G c.(6286-6288)atC>atG p.I2096M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2096 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) CAGACCAGTAGATGTAAGCCC 0.398000 TSP Lung(27;0.18) 30 85 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20803534 20803534 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:20803534G>A ENST00000359062.3 + 14 2965 c.2925_splice c.e14+1 p.Q975_splice PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 975 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTTATGAACAGGTAACTGACC 0.353000 10 29 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38679584 38679584 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:38679584C>G ENST00000267377.2 + 3 1607 c.990C>G c.(988-990)ttC>ttG p.F330L NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 330 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CAGACAACTTCAAGCGCTCTT 0.592000 111 167 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181319 3181319 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:3181319G>A ENST00000408891.2 - 1 949 c.911C>T c.(910-912)cCt>cTt p.P304L NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 304 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CTGAACATCAGGGTTTCTGAG 0.488000 12 37 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 39998074 39998074 + Splice_Site SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:39998074G>C ENST00000293303.4 + 2 347 c.e2-1 KLHL10_ENST00000485613.1_Splice_Site NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) CTTTTTTCCAGAGCTTTGTTT 0.428000 10 85 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368679 145368679 + Nonsense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:145368679C>T ENST00000342960.5 + 84 10692 c.10657C>T c.(10657-10659)Caa>Taa p.Q3553* NBPF10_ENST00000369338.1_Nonsense_Mutation_p.Q669*|NBPF10_ENST00000369339.2_Nonsense_Mutation_p.Q671* NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3553 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) CATATTCCCACAATAAGCAGC 0.463000 25 593 0 0 1 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709796 38709796 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:38709796C>T ENST00000417039.1 - 0 696 TCAAGGCCTTCTTGGCTGATC 0.552000 9 54 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414769 46414769 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:46414769A>G ENST00000343801.4 + 3 733 c.376A>G c.(376-378)Agg>Ggg p.R126G RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Missense_Mutation_p.R126G|CCR5_ENST00000445772.1_Missense_Mutation_p.R126G NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 126 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GACAATCGATAGGTACCTGGC 0.478000 43 198 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644015 20644015 + RNA SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:20644015C>G ENST00000428453.1 - 0 3444 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGCCAGGACCGCCATGAGG 0.592000 6 71 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333191 42333191 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:42333191C>T ENST00000262418.6 - 14 1805 c.1650G>A c.(1648-1650)caG>caA p.Q550Q NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 550 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TATAAGTCTTCTGTAGTGGGT 0.532000 10 97 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83251126 83251126 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:83251126G>A ENST00000549919.1 + 3 2208 c.403G>A c.(403-405)Gat>Aat p.D135N TMTC2_ENST00000548305.1_Missense_Mutation_p.D141N|TMTC2_ENST00000321196.3_Missense_Mutation_p.D141N Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 141 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GGGACGAGCCGATGTCGGGGC 0.542000 11 38 0 0 1 0 0 RPS3A 6189 broad.mit.edu 37 4 152025386 152025386 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:152025386C>T ENST00000512690.1 + 5 627 c.613C>T c.(613-615)Cca>Tca p.P205S RPS3A_ENST00000274065.4_Silent_p.L207L|RPS3A_ENST00000514682.1_Silent_p.L170L|RPS3A_ENST00000509736.1_Silent_p.L88L|RPS3A_ENST00000506126.1_Silent_p.L170L P61247 RS3A_HUMAN ribosomal protein S3A 0 cell differentiation|endocrine pancreas development|induction of apoptosis|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(1)|ovary(1)|pancreas(1) 4 all_hematologic(180;0.093) TTTATCCTCTCCATGATGTCT 0.353000 5 37 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46600262 46600262 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:46600262C>T ENST00000539173.1 + 5 1416 c.981C>T c.(979-981)gtC>gtT p.V327V ADARB1_ENST00000389863.4_Silent_p.V327V|ADARB1_ENST00000348831.4_Silent_p.V327V|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Silent_p.V327V NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 327 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) CTGACGCTGTCTCACGCCTGG 0.572000 6 24 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 902221 902221 + Missense_Mutation SNP G G A rs139154177 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:902221G>A ENST00000449825.1 - 4 727 c.371C>T c.(370-372)aCg>aTg p.T124M CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.T149M|CHID1_ENST00000528581.1_Missense_Mutation_p.T149M|CHID1_ENST00000323541.7_Missense_Mutation_p.T154M|CHID1_ENST00000454838.2_Missense_Mutation_p.T149M|CHID1_ENST00000436108.2_Missense_Mutation_p.T124M|CHID1_ENST00000429789.2_Missense_Mutation_p.T124M|CHID1_ENST00000323578.8_Missense_Mutation_p.T124M NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 124 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity p.T124M(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) GTGGAGGCCCGTGACCTCAAA 0.567000 11 50 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456778 40456778 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:40456778G>A ENST00000378438.4 + 5 554 c.e5-1 ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_Splice_Site|ATP6AP2_ENST00000544975.1_Splice_Site|ATP6AP2_ENST00000535539.1_Splice_Site NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 TCTTCTTACAGAGAGTGTATA 0.368000 15 59 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 944677 944677 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:944677G>C ENST00000217260.4 - 4 592 c.496C>G c.(496-498)Cgg>Ggg p.R166G RSPO4_ENST00000400634.2_Intron NM_001029871.3 NP_001025042.2 Q2I0M5 RSPO4_HUMAN R-spondin 4 166 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 TCTCGTACCCGGCTCTCCAGG 0.657000 11 44 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227985809 227985809 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:227985809C>A ENST00000396625.3 - 5 455 c.248G>T c.(247-249)gGa>gTa p.G83V COL4A4_ENST00000329662.7_Missense_Mutation_p.G83V NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 83 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCAATGGGTCCTGGGGCTCC 0.542000 19 55 5.35267e-07 6.4206e-07 1 1 0 FAM155A 728215 broad.mit.edu 37 13 108518593 108518593 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:108518593G>T ENST00000375915.2 - 1 490 c.352C>A c.(352-354)Cag>Aag p.Q118K NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 118 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTGTGTGCCTGGGCGGCGGGC 0.756000 5 16 0.014758 0.0152052 1 1 0 DMBT1 1755 broad.mit.edu 37 10 124351968 124351968 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:124351968C>A ENST00000368909.3 + 20 2463 c.2357C>A c.(2356-2358)gCc>gAc p.A786D DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.A776D|DMBT1_ENST00000344338.3_Missense_Mutation_p.A776D|DMBT1_ENST00000338354.3_Missense_Mutation_p.A786D NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 786 SRCR 6. 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) CCAGGAAATGCCCGGTTTGGC 0.622000 57 266 9.72345e-25 1.45926e-24 1 1 0 GSE1 23199 broad.mit.edu 37 16 85701835 85701835 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:85701835G>T ENST00000253458.7 + 14 3396 c.3220G>T c.(3220-3222)Gcc>Tcc p.A1074S GSE1_ENST00000405402.2_Missense_Mutation_p.A970S|GSE1_ENST00000393243.1_Missense_Mutation_p.A1001S NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CTCCAGCCGCGCCCCTCCACC 0.647000 20 101 4.47668e-21 6.67777e-21 1 1 0 KLHL35 283212 broad.mit.edu 37 11 75139628 75139628 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:75139628C>G ENST00000539798.1 - 2 924 c.925G>C c.(925-927)Gac>Cac p.D309H KLHL35_ENST00000376292.4_Missense_Mutation_p.D89H NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 89 lung(2)|stomach(1) 3 CCTTTGCGGTCGCAACCGCCG 0.627000 6 40 0 0 1 0 0 NQO2 4835 broad.mit.edu 37 6 3012804 3012804 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:3012804A>G ENST00000338130.2 + 7 911 c.199A>G c.(199-201)Aat>Gat p.N67D NQO2_ENST00000380430.1_Missense_Mutation_p.N67D|NQO2_ENST00000380455.4_Missense_Mutation_p.N67D|NQO2_ENST00000380441.1_Missense_Mutation_p.N67D|NQO2_ENST00000380454.4_Missense_Mutation_p.N67D P16083 NQO2_HUMAN NAD(P)H dehydrogenase, quinone 2 67 cytoplasm|nucleus coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(93;0.0412) all_hematologic(90;0.0895) Menadione(DB00170)|NADH(DB00157) TGAGGTTTTCAATTATGGAGT 0.502000 27 44 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802027 185802027 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:185802027T>C ENST00000302277.6 + 4 2498 c.1904T>C c.(1903-1905)tTg>tCg p.L635S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 635 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAATATCTATTGGAACCAATT 0.358000 13 92 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46997684 46997684 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:46997684G>A ENST00000599531.1 - 1 2071 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 347 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ATCTCCTCCCGGGCCCAGGGG 0.577000 26 179 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 102888741 102888741 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:102888741G>T ENST00000262457.2 + 3 368 c.183G>T c.(181-183)ttG>ttT p.L61F INVS_ENST00000460636.2_3'UTR|INVS_ENST00000374921.3_Missense_Mutation_p.L61F|INVS_ENST00000262456.2_Missense_Mutation_p.L61F|INVS_ENST00000541287.1_5'UTR NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 61 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) CTGACAGATTGGATTGTGCAG 0.438000 20 26 1.01871e-10 1.34826e-10 1 1 0 SLC2A10 81031 broad.mit.edu 37 20 45353921 45353921 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:45353921C>G ENST00000359271.2 + 2 496 c.246C>G c.(244-246)aaC>aaG p.N82K NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 82 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TCGGGAGCAACTTGGTGCTGC 0.657000 12 40 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21546374 21546374 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:21546374G>T ENST00000298694.4 + 9 2200 c.2073G>T c.(2071-2073)ctG>ctT p.L691L ARHGEF40_ENST00000298693.3_Silent_p.L691L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 691 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 AAGGTGTGCTGGGCTCGGTAC 0.552000 17 33 2.94398e-08 3.71198e-08 1 1 0 C3orf20 84077 broad.mit.edu 37 3 14813695 14813695 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:14813695C>T ENST00000253697.3 + 16 3069 c.2617C>T c.(2617-2619)Ctg>Ttg p.L873L C3orf20_ENST00000435614.1_Silent_p.L751L|C3orf20_ENST00000412910.1_Silent_p.L751L NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 873 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GGAGTTATCTCTGGAGGCTGA 0.547000 13 34 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484586 43484586 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:43484586G>A ENST00000395891.1 + 11 2420 c.1815G>A c.(1813-1815)acG>acA p.T605T HECW1_ENST00000453890.1_Silent_p.T605T NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 605 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGGTGGACACGGTGGCCGCTG 0.711000 6 42 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139715 40139715 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:40139715T>G ENST00000325157.6 - 7 2043 c.1793A>C c.(1792-1794)cAg>cCg p.Q598P NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 598 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CTCAGAAGACTGGGGGACCTG 0.418000 13 57 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435684 158435684 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:158435684C>T ENST00000289451.2 + 1 413 c.333C>T c.(331-333)caC>caT p.H111H NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 111 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) GCTCCTCTCACTCCTTCCTGC 0.517000 125 149 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95216342 95216342 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:95216342C>G ENST00000005178.5 - 10 1272 c.1075G>C c.(1075-1077)Gat>Cat p.D359H NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 359 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ATGATAGCATCTGTTCCATAT 0.393000 4 36 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38338847 38338847 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:38338847G>T ENST00000322350.5 + 3 601 c.255G>T c.(253-255)ttG>ttT p.L85F EGFLAM_ENST00000354891.3_Missense_Mutation_p.L85F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 85 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGGAGCAGTTGCACAGCGTGC 0.552000 35 51 1.04352e-10 1.37923e-10 1 1 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734903 37734903 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:37734903T>A ENST00000330843.4 - 2 550 c.538A>T c.(538-540)Aag>Tag p.K180* RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.K180*|RAB11FIP1_ENST00000522727.1_Nonsense_Mutation_p.K32*|RAB11FIP1_ENST00000524118.1_Nonsense_Mutation_p.K32* NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 180 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCCTTATTCTTCCCCTTGATC 0.463000 68 141 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043571 74043571 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:74043571C>A ENST00000409561.1 + 3 2342 c.2221C>A c.(2221-2223)Cta>Ata p.L741I NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 741 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 GCCAAACCCTCTAGCCTCACG 0.542000 73 155 7.33394e-39 1.13165e-38 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181725202 181725202 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:181725202C>A ENST00000526775.1 + 28 4208 c.4043C>A c.(4042-4044)aCc>aAc p.T1348N CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1318N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1299N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1367N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1348N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1367N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T974N NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1367 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCTCTTCACCGTCTCCACA 0.522000 7 31 0.000157383 0.000172422 1 1 0 CHRNA4 1137 broad.mit.edu 37 20 61981345 61981345 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:61981345C>G ENST00000370263.4 - 5 1639 c.1418G>C c.(1417-1419)aGc>aCc p.S473T CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 473 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TTCGCCAGGGCTGGACATGTG 0.721000 3 6 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49099550 49099550 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:49099550C>A ENST00000261900.3 - 3 595 c.e3+1 NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 TAATCTCCTACCTCACTTCTA 0.383000 11 31 0.000673444 0.0007257 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27603092 27603092 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27603092C>T ENST00000323703.6 - 2 277 c.79G>A c.(79-81)Gaa>Aaa p.E27K ZNF513_ENST00000407879.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 27 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGGGTCCTTCGTCGAGGGAG 0.582000 11 112 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237818 29237818 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:29237818C>A ENST00000382535.3 + 2 1702 c.1333C>A c.(1333-1335)Ccg>Acg p.P445T FOXG1_ENST00000313071.4_Missense_Mutation_p.P445T P55316 FOXG1_HUMAN forkhead box G1 445 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P445S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CTCCACGTCGCCGCAGGCCCC 0.597000 25 129 9.04412e-07 1.0731e-06 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51205827 51205827 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:51205827C>T ENST00000293441.1 - 11 1662 c.1644G>A c.(1642-1644)agG>agA p.R548R SHANK1_ENST00000391814.1_Silent_p.R548R|SHANK1_ENST00000359082.3_Silent_p.R548R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 548 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AGTAGAGCTTCCTCCGCCTCC 0.706000 4 21 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216052257 216052257 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:216052257G>T ENST00000366943.2 - 42 8793 c.8407C>A c.(8407-8409)Ctt>Att p.L2803I USH2A_ENST00000307340.3_Missense_Mutation_p.L2803I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2803 Fibronectin type-III 14. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACCCTCCAAGGTACCCATTA 0.443000 HNSCC(13;0.011) 21 148 6.44725e-10 8.39761e-10 1 1 0 ANTXR2 118429 broad.mit.edu 37 4 80828601 80828601 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:80828601G>A ENST00000403729.2 - 17 1974 c.1449C>T c.(1447-1449)tcC>tcT p.S483S ANTXR2_ENST00000482406.1_5'UTR|ANTXR2_ENST00000404191.1_Silent_p.S406S NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 0 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 ATGGAACTCGGGAGAAGTTTA 0.363000 Juvenile Hyaline Fibromatosis 12 64 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67098996 67098996 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:67098996T>C ENST00000284425.2 - 21 3028 c.2854A>G c.(2854-2856)Ata>Gta p.I952V NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 952 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CCAGAAACTATGATAGCTCCA 0.299000 5 25 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037739 75037739 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:75037739G>T ENST00000326665.5 - 14 3873 c.3655C>A c.(3655-3657)Cct>Act p.P1219T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1219 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCAGCTTCAGGAGCTGCTAAG 0.612000 100 133 3.06722e-38 4.72543e-38 1 1 0 FARSA 2193 broad.mit.edu 37 19 13035059 13035059 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:13035059C>A ENST00000588025.1 - 13 1554 c.1414G>T c.(1414-1416)Gtc>Ttc p.V472F FARSA_ENST00000314606.4_Missense_Mutation_p.V432F|FARSA_ENST00000423140.2_Missense_Mutation_p.V401F Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 432 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) GAGTTTCCGACCTCCACCCAC 0.607000 19 154 1.50039e-11 2.02378e-11 1 1 0 METTL23 124512 broad.mit.edu 37 17 74729741 74729741 + Silent SNP C C G rs143884158 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:74729741C>G ENST00000341249.6 + 5 878 c.546C>G c.(544-546)gtC>gtG p.V182V METTL23_ENST00000588822.1_Silent_p.V115V|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.V115V|METTL23_ENST00000586200.1_Silent_p.V63V|METTL23_ENST00000586738.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Silent_p.V115V|METTL23_ENST00000588302.1_3'UTR NM_001206984.1 NP_001193913.1 Q86XA0 MET23_HUMAN methyltransferase like 23 182 integral to membrane methyltransferase activity large_intestine(2)|lung(1) 3 AAATGCTGGTCATTTCCTTTG 0.413000 8 77 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481807 142481807 + RNA SNP C C T rs4726591 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:142481807C>T ENST00000603901.1 + 0 486 NR_001296.3 AGTGCCTGGACGCTCCTGTGC 0.502000 7 35 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137488308 137488308 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:137488308G>A ENST00000254900.5 - 21 3090 c.2719C>T c.(2719-2721)Cca>Tca p.P907S NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 907 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCAGCCTCTGGATCCTCAGTT 0.537000 43 222 0 0 1 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21897298 21897298 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:21897298T>C ENST00000319481.3 - 10 1005 c.799A>G c.(799-801)Agg>Ggg p.R267G NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 267 PH. cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TACTGTTTCCTATACCATGAA 0.318000 6 78 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809297 31809297 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:31809297A>T ENST00000446923.2 + 7 1377 c.986A>T c.(985-987)cAa>cTa p.Q329L ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.Q345L|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q325L|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q278L|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q346L NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 345 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) TCTGTTAACCAAATTAAAACT 0.423000 12 41 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77850871 77850871 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:77850871C>A ENST00000302536.2 + 2 440 c.287C>A c.(286-288)cCc>cAc p.P96H NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 96 oxidoreductase activity|zinc ion binding p.P96L(1) central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GACAACCCTCCCAAGACTCCC 0.438000 18 116 5.3912e-06 6.2538e-06 1 1 0 NPY5R 4889 broad.mit.edu 37 4 164271727 164271727 + Missense_Mutation SNP C C A rs79962221 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:164271727C>A ENST00000515560.1 + 4 1824 c.302C>A c.(301-303)tCt>tAt p.S101Y NPY5R_ENST00000506953.1_Missense_Mutation_p.S101Y|NPY5R_ENST00000338566.3_Missense_Mutation_p.S101Y Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 101 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) ACACTGACGTCTGTCTTGCTG 0.388000 68 196 4.83814e-26 7.30537e-26 1 1 0 LGALS13 29124 broad.mit.edu 37 19 40095993 40095993 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:40095993G>C ENST00000221797.4 + 3 313 c.268G>C c.(268-270)Gag>Cag p.E90Q NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 90 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CAAACAATTTGAGCTGTGCAT 0.512000 20 45 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175759 51175759 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:51175759A>G ENST00000440970.1 - 2 514 c.83T>C c.(82-84)aTg>aCg p.M28T SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M125T|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 125 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTCCACCTCCATGGACTCTTC 0.547000 9 92 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118715997 118715997 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:118715997G>C ENST00000376300.2 - 12 1086 c.949C>G c.(949-951)Cgg>Ggg p.R317G CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 317 p.R317G(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 ATGACTTTCCGGCGATGTAGC 0.398000 7 58 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110852792 110852792 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:110852792A>G ENST00000485303.1 + 6 1655 c.1380A>G c.(1378-1380)caA>caG p.Q460Q PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 460 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TTCTTCAACAAGATGAGCTTG 0.363000 9 60 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200571187 200571187 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:200571187T>C ENST00000367350.4 - 11 2427 c.1989A>G c.(1987-1989)aaA>aaG p.K663K NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 663 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CCAGACTTTCTTTTAACAGCC 0.343000 9 53 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463718 25463718 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:25463718C>T ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 ATGAGTACATCCGGGTTCCAC 0.562000 28 161 0 0 1 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72745164 72745164 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:72745164T>G ENST00000262613.5 + 1 374 c.179T>G c.(178-180)gTg>gGg p.V60G NM_004252.4 NP_004243.1 O14745 NHRF1_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 60 PDZ 1. apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association large_intestine(4) 4 GACCGGCTGGTGGAGGTGAAC 0.706000 3 10 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47320983 47320983 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:47320983G>T ENST00000400314.1 + 7 633 c.295G>T c.(295-297)Gcc>Tcc p.A99S PCBP3_ENST00000400304.1_Missense_Mutation_p.A67S|PCBP3_ENST00000400309.1_Missense_Mutation_p.A99S|PCBP3_ENST00000400308.1_Missense_Mutation_p.A99S|PCBP3_ENST00000449640.1_Missense_Mutation_p.A99S|PCBP3_ENST00000400310.1_Missense_Mutation_p.A99S|PCBP3_ENST00000468429.1_3'UTR P57721 PCBP3_HUMAN poly(rC) binding protein 3 99 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CCCCACAGACGCCATCTTCAA 0.587000 17 98 2.48551e-13 3.46145e-13 1 1 0 SCN3A 6328 broad.mit.edu 37 2 165946873 165946873 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:165946873C>T ENST00000360093.3 - 28 6281 c.5790G>A c.(5788-5790)gaG>gaA p.E1930E SCN3A_ENST00000283254.7_Silent_p.E1930E|SCN3A_ENST00000409101.3_Silent_p.E1881E|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Silent_p.E413E NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1930 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CTTTAATTGCCTCTTTGTTAT 0.348000 4 41 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967506 48967506 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:48967506A>T ENST00000391884.1 + 2 1259 c.783A>T c.(781-783)ggA>ggT p.G261G KCNJ14_ENST00000342291.2_Silent_p.G261G Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 261 voltage-gated potassium channel complex inward rectifier potassium channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) GCTTTGATGGAGGCACCGATC 0.607000 19 24 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15600189 15600189 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:15600189G>T ENST00000378076.3 - 26 3003 c.2650C>A c.(2650-2652)Cca>Aca p.P884T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 884 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTGTCCTCTGGGGAGGCAGCA 0.448000 5 52 0.000602214 0.000652509 1 1 0 PRC1 9055 broad.mit.edu 37 15 91527365 91527365 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:91527365G>T ENST00000361188.5 - 3 1361 c.150C>A c.(148-150)ctC>ctA p.L50L PRC1_ENST00000394249.3_Silent_p.L50L|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000361919.3_Silent_p.L50L|PRC1_ENST00000442656.2_Intron O43663 PRC1_HUMAN protein regulator of cytokinesis 1 50 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TCATATCCAGGAGTTCCTACA 0.418000 35 210 1.36161e-19 2.00981e-19 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30974028 30974028 + Nonsense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:30974028G>C ENST00000597505.1 - 19 2678 c.2679C>G c.(2677-2679)taC>taG p.Y893* DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAGGCCACATGTAGGTAAGCT 0.438000 5 29 0 0 1 0 0 CRELD1 78987 broad.mit.edu 37 3 9985088 9985088 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:9985088G>A ENST00000383811.3 + 9 1536 c.937G>A c.(937-939)Gtg>Atg p.V313M CRELD1_ENST00000489674.1_Intron|CRELD1_ENST00000397170.3_Missense_Mutation_p.V313M|CRELD1_ENST00000452070.1_Missense_Mutation_p.V313M|CRELD1_ENST00000326434.5_Missense_Mutation_p.V313M NM_015513.4 NP_056328.2 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 313 EGF-like 2; calcium-binding (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1) 14 TGAGACAGAGGTGTGTCCGGG 0.572000 31 112 0 0 1 0 0 CSK 1445 broad.mit.edu 37 15 75093361 75093361 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:75093361G>C ENST00000220003.9 + 9 1460 c.731G>C c.(730-732)cGg>cCg p.R244P CSK_ENST00000309470.9_Missense_Mutation_p.R244P|CSK_ENST00000567571.1_Missense_Mutation_p.R244P|CSK_ENST00000439220.2_Missense_Mutation_p.R244P NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 244 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AGGCAACTGCGGCATAGCAAC 0.637000 26 131 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48567661 48567661 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:48567661G>C ENST00000537810.1 - 29 3821 c.3217C>G c.(3217-3219)Cta>Gta p.L1073V FRYL_ENST00000503238.1_Missense_Mutation_p.L1073V|FRYL_ENST00000507711.1_Missense_Mutation_p.L1073V|FRYL_ENST00000358350.4_Missense_Mutation_p.L1073V|FRYL_ENST00000264319.7_5'UTR O94915 FRYL_HUMAN FRY-like 1073 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 AGCATAAATAGACTGTGACGA 0.353000 6 31 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79387383 79387383 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:79387383A>T ENST00000370742.3 - 9 1235 c.1172T>A c.(1171-1173)cTg>cAg p.L391Q NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 391 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGAGTATGTCAGCTCACAGCC 0.428000 125 83 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60198356 60198356 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:60198356T>C ENST00000300190.2 + 2 327 c.241T>C c.(241-243)Ttt>Ctt p.F81L MS4A5_ENST00000534071.1_Intron NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 81 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 AAGGTTTCCCTTTATATTTCT 0.383000 17 88 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20077225 20077225 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:20077225A>T ENST00000351989.3 + 4 1343 c.914A>T c.(913-915)gAc>gTc p.D305V DGCR8_ENST00000407755.1_Missense_Mutation_p.D305V|DGCR8_ENST00000383024.2_Missense_Mutation_p.D305V NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 305 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CCGCTGCCCGACGGGTGGATC 0.542000 23 113 0 0 1 0 0 AGK 55750 broad.mit.edu 37 7 141352706 141352706 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:141352706C>T ENST00000355413.4 + 16 1511 c.1251C>T c.(1249-1251)ctC>ctT p.L417L RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Silent_p.L389L NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 417 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) AACAGATGCTCACAAGCCCCA 0.547000 24 59 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1546343 1546343 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:1546343A>T ENST00000337415.3 + 16 2860 c.2769A>T c.(2767-2769)cgA>cgT p.R923R TPO_ENST00000382201.3_3'UTR|TPO_ENST00000349624.3_3'UTR|TPO_ENST00000346956.3_3'UTR|TPO_ENST00000345913.4_3'UTR|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_3'UTR P07202 PERT_HUMAN thyroid peroxidase 0 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CAGCAGGACGACTGTTTTCCC 0.448000 3 8 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29821566 29821566 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:29821566T>C ENST00000375398.2 - 10 2179 c.1730A>G c.(1729-1731)aAg>aGg p.K577R SVIL_ENST00000355867.4_Missense_Mutation_p.K577R|SVIL_ENST00000375400.3_Intron O95425 SVIL_HUMAN supervillin 577 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding 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) CCCTTCGGTCTTGGAGCTGGG 0.592000 17 67 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033255 82033255 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:82033255C>A ENST00000328945.5 - 3 770 c.643G>T c.(643-645)Gac>Tac p.D215Y NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 215 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CTCCTGGGGTCCCCGTAGACA 0.552000 31 129 1.13719e-10 1.50103e-10 1 1 0 TTC21B 79809 broad.mit.edu 37 2 166771822 166771822 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:166771822A>C ENST00000243344.7 - 15 2164 c.2027T>G c.(2026-2028)aTc>aGc p.I676S NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 676 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 ATTCTGAAGGATGCTTAAAGC 0.398000 54 144 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39884744 39884744 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:39884744G>T ENST00000341184.6 + 2 1607 c.1392G>T c.(1390-1392)tgG>tgT p.W464C NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 464 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CCGGGGGCTGGTTCGACGGCA 0.637000 5 27 3.59834e-05 4.04556e-05 1 1 0 UBQLN2 29978 broad.mit.edu 37 X 56591882 56591882 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:56591882G>T ENST00000338222.5 + 1 1857 c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 526 12 X 3 AA tandem repeats of P-X-X. cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 AGCCCCCCCTGGCTCCACCGG 0.632000 6 6 2.7689e-08 3.49569e-08 1 1 0 NRIP1 8204 broad.mit.edu 37 21 16339463 16339463 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:16339463C>A ENST00000400202.1 - 3 1763 c.1051G>T c.(1051-1053)Ggt>Tgt p.G351C NRIP1_ENST00000400199.1_Missense_Mutation_p.G351C|NRIP1_ENST00000318948.4_Missense_Mutation_p.G351C P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 351 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GGAATGATACCCATTGGATTT 0.373000 14 59 4.3838e-07 5.26483e-07 1 1 0 CHD5 26038 broad.mit.edu 37 1 6203951 6203951 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:6203951G>C ENST00000262450.3 - 13 2074 c.1975C>G c.(1975-1977)Ctg>Gtg p.L659V CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 659 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTCTTGAGCAGCCTCTTGGGC 0.647000 21 113 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617044 1617044 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:1617044G>A ENST00000381580.1 - 3 618 c.439C>T c.(439-441)Ctg>Ttg p.L147L SIRPG_ENST00000303415.3_Silent_p.L180L|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Silent_p.L180L|SIRPG_ENST00000381583.2_Silent_p.L180L Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 180 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AACCATTTCAGGGTGATGTCT 0.572000 45 94 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224690 55224690 + RNA SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:55224690G>A ENST00000413439.1 + 0 1862 GCTGCTTTAGGATTGGCACAG 0.542000 7 16 0 0 1 0 0 FBXL17 64839 broad.mit.edu 37 5 107216681 107216681 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:107216681C>G ENST00000496714.1 - 7 1029 c.828G>C c.(826-828)ttG>ttC p.L276F FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_Intron Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 0 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) GATATGACATCAAGCTATTAA 0.338000 11 72 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102440274 102440274 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:102440274T>G ENST00000399004.2 - 4 704 c.610A>C c.(610-612)Atg>Ctg p.M204L GIN1_ENST00000508629.1_Missense_Mutation_p.M204L|GIN1_ENST00000511400.1_5'UTR NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 204 Integrase catalytic. DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CTTTGGTCCATTATTATTTTC 0.353000 4 21 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608566 81608566 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:81608566C>T ENST00000380167.4 + 9 1593 c.268C>T c.(268-270)Cgc>Tgc p.R90C ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R90C|ATP6AP1L_ENST00000508366.1_3'UTR Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 90 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TTACTCCTACCGCTGCCAACG 0.537000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 122 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906320 5906320 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:5906320C>G ENST00000316987.2 + 1 820 c.798C>G c.(796-798)ggC>ggG p.G266G NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCGTTTTGGCCAAAACATTC 0.428000 14 79 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128658072 128658072 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:128658072C>T ENST00000393245.1 - 2 633 c.260G>A c.(259-261)cGg>cAg p.R87Q TNPO3_ENST00000471234.1_Missense_Mutation_p.R87Q|TNPO3_ENST00000471166.1_Missense_Mutation_p.R87Q|TNPO3_ENST00000482320.1_Missense_Mutation_p.R21Q|TNPO3_ENST00000265388.5_Missense_Mutation_p.R87Q NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 87 R -> W (in Ref. 1; AAD38537). splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CAATGAGTCCCGTAAAGAGGC 0.438000 12 83 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350979 146350979 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:146350979G>C ENST00000392299.2 + 2 796 c.326G>C c.(325-327)tGc>tCc p.C109S GRM1_ENST00000507907.1_Missense_Mutation_p.C109S|GRM1_ENST00000355289.4_Missense_Mutation_p.C109S|GRM1_ENST00000361719.2_Missense_Mutation_p.C109S|GRM1_ENST00000492807.2_Missense_Mutation_p.C109S|GRM1_ENST00000282753.1_Missense_Mutation_p.C109S Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 109 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGGGACTCCTGCTGGCACTCT 0.557000 16 54 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15714731 15714731 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:15714731T>C ENST00000378076.3 - 7 1047 c.694A>G c.(694-696)Agt>Ggt p.S232G NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 232 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCTGCAACACTGGCAGTGATC 0.448000 11 55 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155235708 155235708 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:155235708C>G ENST00000368361.4 - 8 1191 c.876G>C c.(874-876)aaG>aaC p.K292N CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.K291N|CLK2_ENST00000536801.1_Missense_Mutation_p.K292N|CLK2_ENST00000355560.4_Missense_Mutation_p.K290N P49760 CLK2_HUMAN CDC-like kinase 2 292 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TATTTTCAGGCTTGAGGTCTG 0.502000 Other conserved DNA damage response genes 63 116 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72166693 72166693 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:72166693C>A ENST00000537465.1 - 10 1559 c.1401G>T c.(1399-1401)aaG>aaT p.K467N PMFBP1_ENST00000237353.10_Missense_Mutation_p.K467N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K322N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 467 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGTTCTTCAGCTTCTGGACCT 0.587000 70 146 6.25564e-26 9.43129e-26 1 1 0 BCAR1 9564 broad.mit.edu 37 16 75276842 75276842 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:75276842G>T ENST00000546196.1 - 2 1724 c.72C>A c.(70-72)ggC>ggA p.G24G BCAR1_ENST00000162330.5_Silent_p.G53G|BCAR1_ENST00000420641.3_Silent_p.G71G|BCAR1_ENST00000542031.2_Silent_p.G51G|BCAR1_ENST00000538440.2_Silent_p.G53G|BCAR1_ENST00000535626.2_Silent_p.G53G|BCAR1_ENST00000393422.2_Silent_p.G71G|BCAR1_ENST00000418647.3_Silent_p.G99G|BCAR1_ENST00000393420.6_Silent_p.G53G P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 53 SH3. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CAGGCACGATGCCCTGGCGCC 0.667000 8 86 3.86212e-05 4.31752e-05 1 1 0 MAST2 23139 broad.mit.edu 37 1 46501239 46501239 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:46501239G>T ENST00000361297.2 + 29 5181 c.4898G>T c.(4897-4899)aGc>aTc p.S1633I MAST2_ENST00000372009.2_Missense_Mutation_p.S1443I|MAST2_ENST00000372008.1_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1633 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTTTCTCCCAGCACTTCGGGA 0.602000 33 69 1.36161e-19 2.00981e-19 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152755061 152755061 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:152755061C>T ENST00000367255.5 - 34 4931 c.4330G>A c.(4330-4332)Gtg>Atg p.V1444M SYNE1_ENST00000448038.1_Missense_Mutation_p.V1451M|SYNE1_ENST00000367253.4_Missense_Mutation_p.V1444M|SYNE1_ENST00000265368.4_Missense_Mutation_p.V1444M|SYNE1_ENST00000341594.5_Missense_Mutation_p.V1514M|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.V1451M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1444 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTGGTTTTCACCATTTCCATG 0.338000 HNSCC(10;0.0054) 9 38 0 0 1 0 0 YIPF5 81555 broad.mit.edu 37 5 143539985 143539985 + Silent SNP G G A rs35108266 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:143539985G>A ENST00000274496.5 - 6 884 c.750C>T c.(748-750)gtC>gtT p.V250V YIPF5_ENST00000448443.2_Silent_p.V250V|YIPF5_ENST00000513112.1_Silent_p.V196V NM_001271732.1|NM_030799.7 NP_001258661.1|NP_110426.4 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 250 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane large_intestine(2)|lung(5)|ovary(1)|skin(1) 9 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TCAGGGCAAAGACTCCATATA 0.393000 15 63 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681161 40681161 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:40681161C>T ENST00000302472.3 + 2 1090 c.66C>T c.(64-66)acC>acT p.T22T PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 22 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GCCCAGTGACCATCCCGGCGG 0.622000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 136 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43475384 43475384 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:43475384C>G ENST00000532038.1 - 9 1242 c.1107G>C c.(1105-1107)ctG>ctC p.L369L ARHGAP27_ENST00000532891.2_Silent_p.L569L|ARHGAP27_ENST00000442348.1_Silent_p.L564L|ARHGAP27_ENST00000428638.1_Silent_p.L591L|ARHGAP27_ENST00000528384.1_Silent_p.L223L|ARHGAP27_ENST00000455881.1_Silent_p.L250L|ARHGAP27_ENST00000376922.2_Silent_p.L250L|ARHGAP27_ENST00000582826.1_5'UTR Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 591 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CGTGCTGGATCAGGTACTCAG 0.617000 15 80 0 0 1 0 0 PARVG 64098 broad.mit.edu 37 22 44602230 44602230 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:44602230G>T ENST00000422871.1 + 14 1344 c.920G>T c.(919-921)aGg>aTg p.R307M PARVG_ENST00000444313.2_Missense_Mutation_p.R307M|PARVG_ENST00000415224.1_Missense_Mutation_p.R307M NM_001137605.1 NP_001131077.1 Q9HBI0 PARVG_HUMAN parvin, gamma 307 CH 2. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) AGCACACTGAGGGTGCTCTAT 0.607000 10 63 1.5842e-08 2.01032e-08 1 1 0 DSCAM 1826 broad.mit.edu 37 21 42080487 42080487 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:42080487G>C ENST00000400454.1 - 2 731 c.254C>G c.(253-255)cCc>cGc p.P85R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 85 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGGAGGGAAGGGGAAAATTTG 0.498000 19 106 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857025 19857025 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:19857025C>T ENST00000548109.1 + 0 72 CTCTCAGCATCCTGGATAATA 0.383000 22 132 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32544225 32544225 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:32544225C>T ENST00000360538.2 - 3 414 c.298G>A c.(298-300)Gat>Aat p.D100N TOPORS_ENST00000379858.1_Missense_Mutation_p.D35N NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 100 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CACTTAGAATCAGGAGATGCA 0.398000 24 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179553414 179553414 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179553414C>T ENST00000589042.1 - 126 32411 c.32187G>A c.(32185-32187)acG>acA p.T10729T TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.T10412T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T9485T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10412 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCGTGCCGCGTGACTTCCA 0.388000 7 50 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7981302 7981302 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:7981302C>G ENST00000543909.1 - 11 1502 c.743G>C c.(742-744)cGg>cCg p.R248P SLC2A14_ENST00000396589.2_Missense_Mutation_p.R248P|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R139P|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R225P|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R263P|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R225P|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R139P Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 248 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATACTCACTCCGCGTAGCATT 0.433000 18 99 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433873 73433873 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:73433873C>A ENST00000263666.4 - 10 1958 c.1844G>T c.(1843-1845)aGc>aTc p.S615I PDZRN3_ENST00000466780.1_Missense_Mutation_p.S272I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S332I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S337I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S272I NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 615 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CAGGTCGCCGCTGCCCAAGGT 0.657000 20 85 5.03518e-11 6.77311e-11 1 1 0 RFWD3 55159 broad.mit.edu 37 16 74666542 74666542 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:74666542T>A ENST00000361070.4 - 9 1553 c.1456A>T c.(1456-1458)Aac>Tac p.N486Y RFWD3_ENST00000571750.1_Missense_Mutation_p.N486Y NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 486 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 CTCTTCATGTTGGCAGTACTC 0.428000 26 48 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210642095 210642095 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:210642095G>T ENST00000439458.1 + 4 492 c.412G>T c.(412-414)Ggc>Tgc p.G138C UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.G138C NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 138 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TACAGACCGAGGCTCCAGCTG 0.552000 20 81 3.99206e-14 5.5991e-14 1 1 0 PAK7 57144 broad.mit.edu 37 20 9546559 9546559 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:9546559C>G ENST00000378429.3 - 6 2009 c.1463G>C c.(1462-1464)cGa>cCa p.R488P PAK7_ENST00000353224.5_Missense_Mutation_p.R488P|PAK7_ENST00000378423.1_Missense_Mutation_p.R488P NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 488 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AAGCAGTTCTCGTCTCTGTTG 0.433000 55 200 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25318021 25318021 + Silent SNP C C G rs116086438 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:25318021C>G ENST00000330560.3 + 3 660 c.183C>G c.(181-183)acC>acG p.T61T CDCA2_ENST00000380665.3_Silent_p.T46T NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 61 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) CCACAGTAACCGTAGAGCAAT 0.383000 17 91 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551037 248551037 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:248551037G>T ENST00000355728.2 + 1 128 c.128G>T c.(127-129)gGg>gTg p.G43V NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATAGCTAATGGGGTCATGATC 0.473000 20 108 1.15919e-05 1.33057e-05 1 1 0 ZNF513 130557 broad.mit.edu 37 2 27600829 27600829 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27600829C>T ENST00000323703.6 - 4 1407 c.1209G>A c.(1207-1209)ctG>ctA p.L403L ZNF513_ENST00000407879.1_Silent_p.L341L|ZNF513_ENST00000491924.1_5'UTR NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 403 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGCCGTTTCAGGTTATCCA 0.587000 40 192 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230561 39230561 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:39230561T>A ENST00000340369.3 - 2 604 c.376A>T c.(376-378)Acc>Tcc p.T126S XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.T126S NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 126 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TTGCGGGAGGTGGCCTGGACG 0.617000 11 73 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50102541 50102541 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:50102541G>A ENST00000443081.1 + 16 3187 c.2268G>A c.(2266-2268)aaG>aaA p.K756K RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Silent_p.K888K|RBM6_ENST00000539992.1_Silent_p.K230K|RBM6_ENST00000442092.1_Silent_p.K366K|RBM6_ENST00000422955.1_Silent_p.K366K P78332 RBM6_HUMAN RNA binding motif protein 6 888 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) CTGTGAAGAAGGAAGAGAGTC 0.537000 19 87 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202981 140202981 + Missense_Mutation SNP G G T rs17844295 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:140202981G>T ENST00000529859.1 + 1 1621 c.1621G>T c.(1621-1623)Gtg>Ttg p.V541L PCDHA5_ENST00000378126.3_Missense_Mutation_p.V541L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V541L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACGCGGGCGTGCCGCCTCT 0.701000 47 127 5.13769e-22 7.67539e-22 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74575206 74575206 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:74575206C>A ENST00000354431.4 - 5 930 c.739G>T c.(739-741)Gaa>Taa p.E247* LRRIQ3_ENST00000370909.2_Nonsense_Mutation_p.E139*|LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E247*|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 247 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ATAATTTTTTCCTGCTGTTTT 0.313000 6 60 0.00116845 0.00124685 1 1 0 CLDN25 644672 broad.mit.edu 37 11 113650517 113650517 + Translation_Start_Site SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:113650517T>A ENST00000453129.2 + 0 49 NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGGGAGTGACTATGGCCTGGA 0.547000 19 81 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117142905 117142905 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:117142905C>A ENST00000369486.3 - 7 2452 c.1687G>T c.(1687-1689)Gac>Tac p.D563Y IGSF3_ENST00000318837.6_Missense_Mutation_p.D583Y|IGSF3_ENST00000369483.1_Missense_Mutation_p.D583Y NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 563 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CACTGCAAGTCAAAGGAGTCG 0.582000 4 36 0.150653 0.151731 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873901 91873901 + Nonsense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:91873901A>T ENST00000373094.1 + 7 4851 c.4006A>T c.(4006-4008)Aga>Tga p.R1336* PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R1299*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R1299*|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R1328*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R1326*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R1318* NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1336 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGACCGTCCAGAGGTGATTC 0.373000 66 60 0 0 1 0 0 CIRBP 1153 broad.mit.edu 37 19 1272009 1272009 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:1272009G>A ENST00000444172.2 + 5 436 c.302G>A c.(301-303)cGg>cAg p.R101Q CIRBP_ENST00000586472.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000588230.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000413636.2_Missense_Mutation_p.R120Q|CIRBP_ENST00000589686.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000320936.5_Missense_Mutation_p.R154Q|CIRBP_ENST00000589710.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000588030.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000591935.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000587323.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000589235.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000585630.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000586773.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000588090.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000587896.1_Missense_Mutation_p.R154Q|CIRBP_ENST00000589660.1_Missense_Mutation_p.R154Q Q14011 CIRBP_HUMAN cold inducible RNA binding protein 154 Gly-rich. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGTGACCGGAGCTCGGGC 0.602000 15 76 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889981 23889981 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:23889981C>A ENST00000532292.1 - 1 1194 c.1100G>T c.(1099-1101)tGg>tTg p.W367L NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CGGGCCCTCCCAGGCACTCAG 0.667000 7 37 0.000157383 0.000172422 1 1 0 GGH 8836 broad.mit.edu 37 8 63938819 63938819 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:63938819T>C ENST00000260118.6 - 5 799 c.397A>G c.(397-399)Aca>Gca p.T133A GGH_ENST00000518113.1_5'UTR NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 133 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) CCAAGGCATGTGCCCCACACA 0.393000 24 40 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197711726 197711726 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:197711726C>A ENST00000354764.3 - 22 2265 c.e22+1 NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 TCATTCTTTACCTTTTCAAAG 0.328000 12 48 2.80697e-09 3.60844e-09 1 1 0 TKTL2 84076 broad.mit.edu 37 4 164393184 164393184 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:164393184C>T ENST00000280605.3 - 1 1863 c.1703G>A c.(1702-1704)aGg>aAg p.R568K NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 568 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GCCACCTTCCCTGTAGTGATC 0.532000 16 139 0 0 1 0 0 GRPR 2925 broad.mit.edu 37 X 16142296 16142296 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:16142296G>A ENST00000380289.2 + 1 618 c.220G>A c.(220-222)Gtt>Att p.V74I NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 74 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) CATGCGAAACGTTCCAAACCT 0.483000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 59 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68708778 68708778 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:68708778T>C ENST00000303145.7 - 9 1535 c.1449A>G c.(1447-1449)caA>caG p.Q483Q MDM1_ENST00000540418.1_Silent_p.Q203Q|MDM1_ENST00000411698.2_Silent_p.Q448Q NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 483 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CCAACTTCTCTTGCTCTCCCA 0.448000 102 252 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185530 41185530 + RNA SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:41185530C>A ENST00000564680.1 - 0 155 TTGGCTTGTCCCAGATTGTGT 0.473000 9 29 2.17888e-05 2.47794e-05 1 1 0 NAV2 89797 broad.mit.edu 37 11 20071402 20071402 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:20071402C>A ENST00000396085.1 + 16 4752 c.4391C>A c.(4390-4392)gCt>gAt p.A1464D NAV2_ENST00000360655.4_Missense_Mutation_p.A1400D|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000540292.1_Missense_Mutation_p.A1418D|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.A1464D|NAV2_ENST00000527559.2_Missense_Mutation_p.A1416D|NAV2_ENST00000396087.3_Missense_Mutation_p.A1487D NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1487 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCCTGCTGCTAGCCCTAAG 0.493000 19 96 8.10497e-08 1.0027e-07 1 1 0 CENPA 1058 broad.mit.edu 37 2 27015104 27015104 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27015104G>T ENST00000335756.4 + 2 406 c.206G>T c.(205-207)cGc>cTc p.R69L CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R69L NM_001809.3 NP_001800.1 P49450 CENPA_HUMAN centromere protein A 69 H3-like. CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCTTCAGCCGCCTGGTAAGC 0.517000 9 13 1.12685e-05 1.29496e-05 1 1 0 POLL 27343 broad.mit.edu 37 10 103347097 103347097 + Missense_Mutation SNP C C G rs139055788 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:103347097C>G ENST00000370162.3 - 2 515 c.21G>C c.(19-21)ttG>ttC p.L7F POLL_ENST00000370158.3_5'UTR|DPCD_ENST00000416979.2_5'UTR|POLL_ENST00000436284.2_Intron|POLL_ENST00000456836.2_5'UTR|POLL_ENST00000370169.1_Missense_Mutation_p.L7F|POLL_ENST00000299206.4_Missense_Mutation_p.L7F|POLL_ENST00000339310.3_5'UTR|POLL_ENST00000370172.1_Intron|DPCD_ENST00000470165.1_3'UTR NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 7 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GAAATGCCTTCAAGATACCCC 0.507000 DNA polymerases (catalytic subunits) 17 104 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45452284 45452284 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:45452284C>T ENST00000331493.2 + 12 1735 c.1324C>T c.(1324-1326)Ctc>Ttc p.L442F EFCAB13_ENST00000517484.1_Missense_Mutation_p.L346F NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 GCATTCCAGTCTCCAAAAACA 0.383000 7 52 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79030449 79030449 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:79030449C>G ENST00000446378.2 + 2 5892 c.5861C>G c.(5860-5862)tCt>tGt p.S1954C NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1954 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCTGAAGAATCTCATTTGTCA 0.453000 6 32 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130400415 130400415 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:130400415C>A ENST00000356763.3 - 17 4185 c.3628G>T c.(3628-3630)Gtg>Ttg p.V1210L PIK3R4_ENST00000512677.1_5'UTR NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1210 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CACATGGACACTTCGTTGTTG 0.433000 17 65 5.3912e-06 6.2538e-06 1 1 0 CWH43 80157 broad.mit.edu 37 4 48996698 48996698 + Nonsense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:48996698A>T ENST00000226432.4 + 5 757 c.574A>T c.(574-576)Aga>Tga p.R192* CWH43_ENST00000513409.1_Nonsense_Mutation_p.R165* NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 192 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GATGGCCTCTAGACCCAACTG 0.468000 14 113 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:23828664T>A ENST00000216733.3 - 4 1630 c.1023A>T c.(1021-1023)ccA>ccT p.P341P EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 18 76 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19184026 19184026 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:19184026C>G ENST00000375371.3 - 2 303 c.282G>C c.(280-282)ctG>ctC p.L94L RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 94 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TCTCATAGCCCAGCAGCACAC 0.547000 12 67 0 0 1 0 0 P2RY10 27334 broad.mit.edu 37 X 78217036 78217036 + Nonstop_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:78217036A>T ENST00000171757.2 + 4 1299 c.1019A>T c.(1018-1020)tAa>tTa p.*340L P2RY10_ENST00000544091.1_Nonstop_Mutation_p.*340L NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 0 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 ATGATTGGCTAAAATTAAGAT 0.413000 44 41 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78569132 78569132 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:78569132C>G ENST00000397909.2 + 25 5201 c.5028C>G c.(5026-5028)atC>atG p.I1676M NAV3_ENST00000266692.7_Missense_Mutation_p.I1499M|NAV3_ENST00000536525.2_Missense_Mutation_p.I1676M|NAV3_ENST00000228327.6_Missense_Mutation_p.I1676M Q8IVL0 NAV3_HUMAN neuron navigator 3 1676 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 TTTCTAGTATCAACAGTGCCA 0.423000 HNSCC(70;0.22) 6 33 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93378 93378 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:93378C>A ENST00000447903.2 - 4 1053 c.738G>T c.(736-738)agG>agT p.R246S TUBB8_ENST00000309812.4_Missense_Mutation_p.R318S Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 318 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GCATGCGACCCCTGAAAATGG 0.517000 30 145 3.80469e-20 5.64125e-20 1 1 0 MUC2 4583 broad.mit.edu 37 11 1093935 1093935 + Splice_Site SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:1093935T>A ENST00000441003.2 + 30 5779 c.e30+2 MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Splice_Site NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCCCTCCAGGTAAGCAGAGCT 0.667000 8 43 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119074 3119074 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:3119074C>A ENST00000304094.1 + 1 160 c.160C>A c.(160-162)Cgc>Agc p.R54S NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R54C(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CTCTGATGTTCGCCTTCACAA 0.458000 43 142 7.88023e-25 1.18444e-24 1 1 0 HERPUD2 64224 broad.mit.edu 37 7 35733845 35733845 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:35733845C>G ENST00000396081.1 - 1 900 c.96G>C c.(94-96)tgG>tgC p.W32C HERPUD2_ENST00000311350.3_Missense_Mutation_p.W32C NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 32 Ubiquitin-like. response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TCCCCACGGTCCAGTTCAAGA 0.473000 30 147 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862892 10862892 + RNA SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:10862892G>T ENST00000559480.1 + 0 188 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CATGCACAAGGGCTTGAGTGG 0.552000 20 150 8.34094e-07 9.90863e-07 1 1 0 SMARCA4 6597 broad.mit.edu 37 19 11123789 11123789 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:11123789G>T ENST00000358026.2 + 16 2722 c.e16+1 SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGCCTCTCTCGTGAGTACCCG 0.552000 """F, N, Mis""" NSCLC 19 34 4.35082e-09 5.57131e-09 1 1 0 SDCCAG8 10806 broad.mit.edu 37 1 243652396 243652396 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:243652396T>A ENST00000366541.3 + 17 2184 c.2066T>A c.(2065-2067)cTg>cAg p.L689Q SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L544Q|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L646Q|AKT3_ENST00000336199.5_Intron NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 689 Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CAGCTTCTCCTGGAGAGGCAG 0.632000 5 35 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569741 49569741 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:49569741C>T ENST00000545947.1 + 6 2519 c.1797C>T c.(1795-1797)ccC>ccT p.P599P DAG1_ENST00000515359.2_Silent_p.P599P|DAG1_ENST00000308775.2_Silent_p.P599P|DAG1_ENST00000541308.1_Silent_p.P599P|DAG1_ENST00000539901.1_Silent_p.P599P|DAG1_ENST00000538711.1_Silent_p.P599P NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 599 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) ACAGGCGCCCCCAAGGGGATA 0.562000 11 72 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620208 144620208 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:144620208G>A ENST00000262577.5 - 2 1360 c.1329C>T c.(1327-1329)agC>agT p.S443S NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 443 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TCTTGGTGCGGCTCTTCACTT 0.627000 11 58 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 7 97 0 0 1 0 0 ZMAT3 64393 broad.mit.edu 37 3 178748673 178748673 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:178748673G>C ENST00000311417.2 - 3 1126 c.385C>G c.(385-387)Ccg>Gcg p.P129A ZMAT3_ENST00000432729.1_Missense_Mutation_p.P129A NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 129 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) CTCACCTGCGGAGGGACTGGA 0.468000 20 129 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848403 73848403 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:73848403G>C ENST00000523207.1 + 3 1401 c.813G>C c.(811-813)ttG>ttC p.L271F NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 271 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TCATTGATTTGCTGGCCATCT 0.463000 32 96 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107141292 107141292 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:107141292C>A ENST00000392842.1 + 16 2125 c.1711C>A c.(1711-1713)Cag>Aag p.Q571K RFX4_ENST00000357881.4_Missense_Mutation_p.Q580K|RFX4_ENST00000229387.5_Missense_Mutation_p.Q477K|RP11-144F15.1_ENST00000551505.1_Intron NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 571 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GAACTCCCAACAGCTGCCCTG 0.512000 14 77 0.146539 0.14865 1 1 0 GCFC2 6936 broad.mit.edu 37 2 75929319 75929319 + Missense_Mutation SNP C C G rs146928795 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:75929319C>G ENST00000470503.1 - 3 668 c.625G>C c.(625-627)Gat>Cat p.D209H GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000321027.3_Intron|GCFC2_ENST00000541687.1_Intron NM_001201335.1 NP_001188264.1 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 623 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ATTGGTAAATCCATACTTGAT 0.333000 21 82 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21052498 21052498 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:21052498C>G ENST00000375031.1 - 4 677 c.53G>C c.(52-54)tGc>tCc p.C18S SH2D5_ENST00000460804.1_Intron|SH2D5_ENST00000444387.2_Missense_Mutation_p.C102S NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 18 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCAAACTGGCAGTCGGCAGG 0.627000 6 23 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011157 40011157 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:40011157G>T ENST00000315792.3 + 1 169 c.106G>T c.(106-108)Gtg>Ttg p.V36L NM_020130.4 NP_064515.1 Q9NR00 CH004_HUMAN chromosome 8 open reading frame 4 36 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) TAAGAAAGCCGTGGGCAACAT 0.498000 15 53 1.15088e-07 1.40965e-07 1 1 0 NPHP1 4867 broad.mit.edu 37 2 110922275 110922275 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:110922275G>T ENST00000316534.4 - 8 834 c.761C>A c.(760-762)gCg>gAg p.A254E NPHP1_ENST00000393272.3_Missense_Mutation_p.A254E|NPHP1_ENST00000417665.1_Missense_Mutation_p.A254E|NPHP1_ENST00000355301.4_Missense_Mutation_p.A192E|NPHP1_ENST00000445609.2_Missense_Mutation_p.A254E O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 254 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CTCTGAAATCGCTTTCTGAAC 0.443000 10 92 5.3912e-06 6.2538e-06 1 1 0 NAPRT1 93100 broad.mit.edu 37 8 144657399 144657399 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:144657399C>A ENST00000449291.2 - 11 1702 c.1408G>T c.(1408-1410)Gtg>Ttg p.V470L NAPRT1_ENST00000460623.1_Splice_Site|NAPRT1_ENST00000426292.3_Splice_Site|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V470L|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V470L Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 470 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGTGGCTCCACCTGGGCTGGC 0.687000 3 20 0.00909568 0.00946027 1 1 0 SULT1C3 442038 broad.mit.edu 37 2 108881408 108881408 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:108881408C>A ENST00000329106.2 + 6 749 c.749C>A c.(748-750)aCc>aAc p.T250N NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 250 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ACCAACTATACCACTTTGCCC 0.403000 24 68 9.57634e-11 1.27254e-10 1 1 0 BBS12 166379 broad.mit.edu 37 4 123663171 123663171 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:123663171G>T ENST00000542236.1 + 3 505 c.124G>T c.(124-126)Gaa>Taa p.E42* BBS12_ENST00000314218.3_Nonsense_Mutation_p.E42* NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 42 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 TATTATAGATGAAGAATGTCA 0.368000 Bardet-Biedl syndrome 12 52 4.3838e-07 5.26483e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179616576 179616576 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179616576C>A ENST00000360870.5 - 46 10773 c.10551G>T c.(10549-10551)gaG>gaT p.E3517D TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3516 Ig-like 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCGGTTCACCCTCTAAAACAT 0.388000 11 92 0.00829132 0.00866021 1 1 0 SYT10 341359 broad.mit.edu 37 12 33535308 33535308 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:33535308G>T ENST00000228567.3 - 5 1642 c.1346C>A c.(1345-1347)tCc>tAc p.S449Y SYT10_ENST00000535526.1_Missense_Mutation_p.S268Y NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 449 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GACCGCAATGGAGAGGCTGAC 0.453000 6 76 0.00116845 0.00124685 1 1 0 RBBP5 5929 broad.mit.edu 37 1 205090984 205090984 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:205090984C>A ENST00000264515.6 - 1 159 c.19_splice c.e1+1 p.L6_splice RBBP5_ENST00000367164.1_Splice_Site_p.L6_splice|RBBP5_ENST00000484379.1_5'UTR NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 6 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CCTTCTCACCCAGCAACTCGA 0.607000 12 71 9.05144e-12 1.22424e-11 1 1 0 ZNF831 128611 broad.mit.edu 37 20 57767559 57767559 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:57767559C>T ENST00000371030.2 + 1 1485 c.1485C>T c.(1483-1485)acC>acT p.T495T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 495 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TCTCCACCACCGTGGAATGTG 0.701000 14 55 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153674 5153674 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:5153674T>A ENST00000307388.1 - 1 198 c.199A>T c.(199-201)Atg>Ttg p.M67L NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCTGCCAACATGGCCAAAAAA 0.383000 11 47 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80634687 80634687 + Missense_Mutation SNP A A T rs148018494 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:80634687A>T ENST00000369816.4 - 3 651 c.351T>A c.(349-351)aaT>aaA p.N117K NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 117 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) CATGAACATTATTAGAATAAT 0.303000 9 64 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544859 23544859 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:23544859T>C ENST00000300619.7 - 4 1127 c.922A>G c.(922-924)Acc>Gcc p.T308A ZNF91_ENST00000397082.2_Missense_Mutation_p.T276A|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 308 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTAGCAAGGGTTGAAGAATGG 0.393000 7 84 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58236703 58236703 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:58236703C>A ENST00000300900.4 + 8 956 c.857C>A c.(856-858)gCc>gAc p.A286D NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 286 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AAGTCCGGGGCCCCGGGTCGG 0.657000 3 19 0.115264 0.117045 1 1 0 OR11H4 390442 broad.mit.edu 37 14 20711258 20711258 + Nonsense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:20711258C>G ENST00000315409.2 + 1 361 c.308C>G c.(307-309)tCa>tGa p.S103* NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) AAGGCCATCTCATTTTCTGGG 0.438000 16 216 0 0 1 0 0 SLC9A7 84679 broad.mit.edu 37 X 46532014 46532014 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:46532014C>A ENST00000328306.4 - 4 677 c.652G>T c.(652-654)Ggg>Tgg p.G218W NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 218 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 ACAGCAGTCCCCAAGAAGGCA 0.383000 19 31 3.62473e-10 4.74633e-10 1 1 0 FAT4 79633 broad.mit.edu 37 4 126411315 126411315 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:126411315C>G ENST00000394329.3 + 17 13351 c.13338C>G c.(13336-13338)caC>caG p.H4446Q FAT4_ENST00000335110.5_Missense_Mutation_p.H2687Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4446 EGF-like 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGGCCTGCACTCCGGCTTCA 0.612000 19 108 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987219 61987219 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:61987219T>C ENST00000259003.10 - 5 479 c.335A>G c.(334-336)tAc>tGc p.Y112C CSHL1_ENST00000346606.6_Missense_Mutation_p.Y80C|CSHL1_ENST00000309894.5_Missense_Mutation_p.Y174C|CSHL1_ENST00000438387.2_Missense_Mutation_p.Y91C|CSHL1_ENST00000561003.1_Silent_p.L175L|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Silent_p.L164L Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 174 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 AAACTTGCTGTAGGTCTGCTT 0.552000 62 141 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121465411 121465411 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:121465411C>A ENST00000257570.5 - 4 1137 c.867G>T c.(865-867)gaG>gaT p.E289D OASL_ENST00000339275.5_Intron NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 289 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGACACAATCCTCAATGATTG 0.458000 8 81 4.1943e-16 6.0023e-16 1 1 0 CDHR5 53841 broad.mit.edu 37 11 620375 620375 + Silent SNP G G C rs139559471 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:620375G>C ENST00000358353.3 - 9 1123 c.801C>G c.(799-801)ctC>ctG p.L267L CDHR5_ENST00000349570.7_Silent_p.L267L|CDHR5_ENST00000397542.2_Silent_p.L267L Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 267 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GACGCAGGACGAGGGGAGATG 0.662000 11 50 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72935158 72935158 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:72935158G>A ENST00000262209.4 - 27 3550 c.3343C>T c.(3343-3345)Cac>Tac p.H1115Y RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1115 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TCAAGATGGTGTGTTTTTGCC 0.423000 11 53 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556216 45556216 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:45556216G>A ENST00000347644.3 + 6 649 c.584G>A c.(583-585)aGc>aAc p.S195N CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 195 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AAACACCACAGCGCAGTGAGT 0.483000 6 60 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27602975 27602975 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27602975C>G ENST00000323703.6 - 2 394 c.196G>C c.(196-198)Gag>Cag p.E66Q ZNF513_ENST00000407879.1_Missense_Mutation_p.E4Q NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 66 Gly-rich. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTCTCTCTCGAAGCCCATG 0.552000 18 199 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77324705 77324705 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:77324705C>A ENST00000558012.1 + 11 1297 c.808C>A c.(808-810)Cag>Aag p.Q270K PSTPIP1_ENST00000267939.5_Missense_Mutation_p.Q269K|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.Q270K|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.Q270K|PSTPIP1_ENST00000557995.1_3'UTR NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 270 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CAGTTTCATCCAGGCCAAGAG 0.662000 8 44 3.86212e-05 4.31752e-05 1 1 0 LSM14A 26065 broad.mit.edu 37 19 34699902 34699902 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:34699902G>T ENST00000544216.3 + 4 561 c.484G>T c.(484-486)Gtt>Ttt p.V162F LSM14A_ENST00000433627.5_Missense_Mutation_p.V162F|LSM14A_ENST00000540746.2_Intron NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 162 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) AAGTAGTGCGGTTGGTTCTGC 0.348000 16 22 1.99824e-07 2.43543e-07 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163393470 163393470 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:163393470C>T ENST00000332142.5 - 3 527 c.428G>A c.(427-429)aGg>aAg p.R143K KCNH7_ENST00000328032.4_Missense_Mutation_p.R143K NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 143 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGGGTTTACCCTCTCTGGGGT 0.378000 12 120 0 0 1 0 0 SIX3 6496 broad.mit.edu 37 2 45169367 45169367 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:45169367G>C ENST00000260653.3 + 1 466 c.124G>C c.(124-126)Ggc>Cgc p.G42R NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 42 Poly-Gly. visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) gggaggcggcggcggcgcggg 0.746000 10 68 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23523711 23523711 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:23523711G>C ENST00000305877.8 + 1 1315 c.564G>C c.(562-564)ctG>ctC p.L188L BCR_ENST00000359540.3_Silent_p.L188L|BCR_ENST00000398512.5_Silent_p.L188L NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 188 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 AGCGCGGCCTGGTGAAGGTCA 0.652000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 13 58 0 0 1 0 0 DNAH14 127602 broad.mit.edu 37 1 225155208 225155208 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:225155208G>T ENST00000430092.1 + 6 789 c.574G>T c.(574-576)Gat>Tat p.D192Y DNAH14_ENST00000439375.2_Missense_Mutation_p.D192Y|DNAH14_ENST00000366848.1_Missense_Mutation_p.D192Y|DNAH14_ENST00000400952.3_Missense_Mutation_p.D192Y|DNAH14_ENST00000366849.1_Missense_Mutation_p.D192Y|DNAH14_ENST00000366850.3_Missense_Mutation_p.D192Y NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 319 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 CAATCCATATGATCTTCAGGT 0.313000 15 146 2.23348e-06 2.62794e-06 1 1 0 HOXC13 3229 broad.mit.edu 37 12 54333329 54333329 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:54333329C>T ENST00000243056.3 + 1 795 c.639C>T c.(637-639)ggC>ggT p.G213G HOXC-AS5_ENST00000512916.2_RNA NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 213 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 CCGTCGAAGGCTACCAGCACT 0.662000 T NUP98 AML 6 25 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7721755 7721755 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:7721755C>A ENST00000486284.1 + 9 2745 c.2471C>A c.(2470-2472)aCg>aAg p.T824K GRM7_ENST00000402647.2_Missense_Mutation_p.T824K|GRM7_ENST00000389336.4_Missense_Mutation_p.T824K|GRM7_ENST00000403881.1_Missense_Mutation_p.T824K|GRM7_ENST00000357716.4_Missense_Mutation_p.T824K NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 824 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.T824M(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAAACTACCACGCTTACAATC 0.438000 9 35 3.09899e-07 3.74461e-07 1 1 0 HPS5 11234 broad.mit.edu 37 11 18314518 18314518 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:18314518T>C ENST00000396253.3 - 14 1910 c.1448A>G c.(1447-1449)gAa>gGa p.E483G HPS5_ENST00000352460.3_Intron|HPS5_ENST00000438420.2_Missense_Mutation_p.E483G|HPS5_ENST00000349215.3_Missense_Mutation_p.E597G NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 597 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TACCTCTTTTTCCTCCCTAAA 0.418000 Hermansky-Pudlak syndrome 13 50 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6848051 6848051 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:6848051G>T ENST00000304076.2 + 22 2083 c.1989G>T c.(1987-1989)ctG>ctT p.L663L VAV1_ENST00000539284.1_Silent_p.L588L|VAV1_ENST00000599806.1_Silent_p.L630L|VAV1_ENST00000596764.1_Silent_p.L653L|VAV1_ENST00000602142.1_Silent_p.L685L NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 685 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AGAGCATCCTGGCCAACCGCT 0.587000 32 82 3.90053e-15 5.50991e-15 1 1 0 IGKV1-17 28937 broad.mit.edu 37 2 89416903 89416903 + RNA SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:89416903G>T ENST00000490686.1 - 0 307 GATTGTGAGAGTGAATTCTGT 0.488000 12 135 4.7546e-09 6.08047e-09 1 1 0 NRIP1 8204 broad.mit.edu 37 21 16339464 16339464 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:16339464C>A ENST00000400202.1 - 3 1762 c.1050G>T c.(1048-1050)atG>atT p.M350I NRIP1_ENST00000400199.1_Missense_Mutation_p.M350I|NRIP1_ENST00000318948.4_Missense_Mutation_p.M350I P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 350 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GAATGATACCCATTGGATTTT 0.373000 14 60 4.3838e-07 5.26483e-07 1 1 0 D2HGDH 728294 broad.mit.edu 37 2 242707234 242707234 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:242707234C>T ENST00000321264.4 + 10 1625 c.1416C>T c.(1414-1416)gtC>gtT p.V472V D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.V338V NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 472 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) AGGGCAGCGTCAGCGCGGAGC 0.692000 12 44 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101560366 101560366 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:101560366G>T ENST00000536262.2 - 12 1990 c.1432C>A c.(1432-1434)Caa>Aaa p.Q478K NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 478 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTACAGCCTTGGATATCAAGG 0.393000 7 28 1.06961e-07 1.31665e-07 1 1 0 SYCP2 10388 broad.mit.edu 37 20 58442798 58442798 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:58442798T>A ENST00000357552.3 - 39 4318 c.4093A>T c.(4093-4095)Agg>Tgg p.R1365W SYCP2_ENST00000371001.2_Missense_Mutation_p.R1365W Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1365 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GAATTGAGCCTCTCGTAAGTC 0.323000 8 38 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112138 76112138 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:76112138C>T ENST00000324432.5 + 5 1092 c.582C>T c.(580-582)gtC>gtT p.V194V DTX2_ENST00000307569.8_Silent_p.V194V|DTX2_ENST00000446600.1_Silent_p.V103V|DTX2_ENST00000446820.2_Silent_p.V194V|DTX2_ENST00000430490.2_Silent_p.V194V|DTX2_ENST00000413936.2_Silent_p.V194V NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 194 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 ACACAGGCGTCGCCTGCTCTT 0.672000 30 156 0 0 1 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22921762 22921762 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrY:22921762T>C ENST00000288666.5 + 3 90 c.90T>C c.(88-90)cgT>cgC p.R30R NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 30 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 AGGCACCTCGTCCATCGACAG 0.468000 31 29 0 0 1 0 0 C5orf51 285636 broad.mit.edu 37 5 41904501 41904501 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:41904501G>C ENST00000381647.2 + 1 51 c.32G>C c.(31-33)cGa>cCa p.R11P C5orf51_ENST00000505931.2_Intron NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 11 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GTGGTGAGACGAGTGGAAGAG 0.662000 21 38 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961113 34961113 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:34961113G>T ENST00000329357.5 + 1 201 c.165G>T c.(163-165)atG>atT p.M55I NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 55 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CGGAGGGCATGGACGACTTCC 0.557000 23 26 7.87624e-14 1.10312e-13 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40136549 40136549 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:40136549C>A ENST00000278198.2 - 2 3257 c.1294G>T c.(1294-1296)Gtt>Ttt p.V432F LRRC4C_ENST00000527150.1_Missense_Mutation_p.V432F|LRRC4C_ENST00000528697.1_Missense_Mutation_p.V432F|LRRC4C_ENST00000530763.1_Missense_Mutation_p.V432F Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 432 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTATTCCCAACGGAATTACTC 0.438000 13 137 9.16793e-09 1.1679e-08 1 1 0 EXOC3 11336 broad.mit.edu 37 5 453722 453722 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:453722C>T ENST00000512944.1 + 4 791 c.602C>T c.(601-603)aCt>aTt p.T201I EXOC3_ENST00000315013.5_Missense_Mutation_p.T201I NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 212 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCACTGGTCACTGTCCGCCGT 0.547000 27 116 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61465961 61465961 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:61465961G>A ENST00000398019.2 + 6 903 c.578G>A c.(577-579)tGc>tAc p.C193Y SERPINB7_ENST00000540675.1_Missense_Mutation_p.C176Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.C193Y|SERPINB7_ENST00000546027.1_Missense_Mutation_p.C193Y NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 193 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ACCATAAATTGCCATTTCAAA 0.408000 29 54 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94129022 94129022 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:94129022G>T ENST00000553484.1 + 42 6935 c.6781G>T c.(6781-6783)Gtg>Ttg p.V2261L UNC79_ENST00000393151.2_Missense_Mutation_p.V2239L|UNC79_ENST00000555664.1_Missense_Mutation_p.V2200L|UNC79_ENST00000256339.4_Missense_Mutation_p.V2062L Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2239 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGCCTACCTGGTGGAGCTGTG 0.418000 10 17 1.58986e-06 1.87737e-06 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541155 55541155 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:55541155C>A ENST00000361760.1 + 1 242 c.242C>A c.(241-243)cCt>cAt p.P81H NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 81 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) GTAGTTACACCTAAACTGTTG 0.368000 21 87 2.4624e-09 3.17376e-09 1 1 0 FAM71C 196472 broad.mit.edu 37 12 100042346 100042346 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:100042346A>C ENST00000324341.1 + 1 816 c.394A>C c.(394-396)Aac>Cac p.N132H ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 132 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) AACCATCCACAACAGCGTAAA 0.483000 24 85 0 0 1 0 0 PDIA2 64714 broad.mit.edu 37 16 334453 334453 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:334453C>G ENST00000219406.6 + 2 284 c.266C>G c.(265-267)gCg>gGg p.A89G PDIA2_ENST00000404312.1_Missense_Mutation_p.A89G NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 89 Thioredoxin 1. apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCGTGCTCGCGGCCGAGTCA 0.687000 4 9 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44106231 44106231 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:44106231G>T ENST00000259746.9 + 6 567 c.384G>T c.(382-384)tgG>tgT p.W128C TMEM63B_ENST00000323267.6_Missense_Mutation_p.W128C Q5T3F8 TM63B_HUMAN transmembrane protein 63B 128 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TCTGTTCCTGGCTGACAGCCA 0.517000 41 165 2.64894e-19 3.90412e-19 1 1 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013999 117013999 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:117013999C>G ENST00000306985.4 + 2 406 c.252C>G c.(250-252)aaC>aaG p.N84K MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.N84K NM_001085481.1 NP_001078950.1 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 beta 2 84 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule breast(1)|large_intestine(2)|lung(3) 6 TGTTGGTGAACGGACACAGCA 0.478000 17 78 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752451 19752451 + Missense_Mutation SNP C C A rs145210942 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:19752451C>A ENST00000400113.3 - 3 414 c.310G>T c.(310-312)Gcc>Tcc p.A104S NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 104 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGCCTCTGGCGTAATTATTG 0.532000 32 101 3.90053e-15 5.50991e-15 1 1 0 TCTN1 79600 broad.mit.edu 37 12 111066760 111066760 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:111066760A>T ENST00000550703.2 + 4 817 c.661A>T c.(661-663)Aca>Tca p.T221S TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551590.1_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Intron|HVCN1_ENST00000548312.1_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 0 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TCATCCCATCACAAATATCTT 0.353000 3 19 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37481388 37481388 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:37481388G>A ENST00000379066.1 - 18 3220 c.2458C>T c.(2458-2460)Cgt>Tgt p.R820C PRKD3_ENST00000234179.2_Missense_Mutation_p.R820C O94806 KPCD3_HUMAN protein kinase D3 820 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ACACTGTAACGTTTTCTCATC 0.373000 11 50 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183079630 183079630 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:183079630T>C ENST00000258341.4 + 4 1119 c.862T>C c.(862-864)Tgt>Cgt p.C288R NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 288 Laminin EGF-like 1. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGATGTAAATGTAATGGACA 0.383000 13 106 0 0 1 0 0 MOB2 81532 broad.mit.edu 37 11 1492549 1492549 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:1492549C>A ENST00000329957.6 - 4 655 c.466G>T c.(466-468)Gag>Tag p.E156* MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 125 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 AACACGTCCTCATCCGTCACC 0.577000 6 33 0.0215528 0.0220675 1 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711507 155711507 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:155711507T>C ENST00000295101.2 + 3 1665 c.1188T>C c.(1186-1188)acT>acC p.T396T KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 396 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ATGATATTACTACAAAACTAC 0.378000 40 96 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783452 54783452 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:54783452A>C ENST00000391748.1 - 5 533 c.406T>G c.(406-408)Tca>Gca p.S136A LILRB2_ENST00000391746.1_Missense_Mutation_p.S136A|LILRB2_ENST00000314446.5_Missense_Mutation_p.S136A|LILRB2_ENST00000434421.1_Missense_Mutation_p.S20A|LILRB2_ENST00000391749.4_Missense_Mutation_p.S136A NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 136 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTTCCTCCTGAGGTCACCACA 0.572000 39 90 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35659194 35659194 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:35659194G>T ENST00000216106.5 + 3 283 c.155G>T c.(154-156)aGg>aTg p.R52M HMGXB4_ENST00000444518.2_5'UTR NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 52 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTCAGGTCAGGAATTCTTCC 0.363000 8 40 3.09899e-07 3.74461e-07 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141253296 141253296 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:141253296G>T ENST00000389484.3 - 56 9843 c.8872C>A c.(8872-8874)Caa>Aaa p.Q2958K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2958 EGF-like 6. 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) TCCTTCAGTTGGAATCCAGGC 0.398000 TSP Lung(27;0.18) 7 44 0.0293803 0.0299576 1 1 0 SPATA22 84690 broad.mit.edu 37 17 3343561 3343561 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:3343561G>T ENST00000573128.1 - 9 1455 c.972C>A c.(970-972)aaC>aaA p.N324K SPATA22_ENST00000572969.1_Missense_Mutation_p.N324K|SPATA22_ENST00000575375.1_Missense_Mutation_p.N324K|SPATA22_ENST00000355380.4_Missense_Mutation_p.N281K|SPATA22_ENST00000397168.3_Missense_Mutation_p.N324K|SPATA22_ENST00000541913.1_Missense_Mutation_p.N308K|SPATA22_ENST00000268981.5_3'UTR Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 324 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 ATTGGAAAATGTTCTTTTTCT 0.363000 10 33 0.00829132 0.00866021 1 1 0 DPF3 8110 broad.mit.edu 37 14 73141046 73141046 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:73141046G>T ENST00000541685.1 - 8 785 c.773C>A c.(772-774)cCc>cAc p.P258H DPF3_ENST00000546183.1_Missense_Mutation_p.P268H|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.P258H NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 258 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTAGTTATTGGGAATGACTGT 0.507000 9 11 3.86212e-05 4.31752e-05 1 1 0 MUC16 94025 broad.mit.edu 37 19 9086989 9086989 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:9086989G>T ENST00000397910.4 - 1 5029 c.4826C>A c.(4825-4827)cCa>cAa p.P1609Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1609 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 GTCTGTAGATGGTTTCCAAAA 0.502000 57 95 7.50695e-29 1.14403e-28 1 1 0 OR52J3 119679 broad.mit.edu 37 11 5068689 5068689 + Nonstop_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:5068689T>C ENST00000380370.1 + 1 934 c.934T>C c.(934-936)Taa>Caa p.*312Q NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TACTAAAAAATAAGACTCTTA 0.373000 9 49 0 0 1 0 0 GNGT2 2793 broad.mit.edu 37 17 47284190 47284190 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:47284190C>A ENST00000511277.1 - 4 318 c.139G>T c.(139-141)Gat>Tat p.D47Y GNGT2_ENST00000300406.2_Missense_Mutation_p.D47Y|GNGT2_ENST00000515635.1_Missense_Mutation_p.D47Y|GNGT2_ENST00000503070.1_Missense_Mutation_p.D47Y|GNGT2_ENST00000507680.1_Missense_Mutation_p.D47Y|GNGT2_ENST00000511673.1_Missense_Mutation_p.D47Y NM_001198756.1 NP_001185685.1 O14610 GBGT2_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 47 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) AGAAAAGGATCGTTTCCTGCT 0.488000 25 89 1.64293e-13 2.29452e-13 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124754983 124754983 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:124754983G>C ENST00000306534.3 - 17 3440 c.2955C>G c.(2953-2955)atC>atG p.I985M RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.I840M NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 985 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TCTGGGAAGAGATCTGAGAGT 0.602000 10 72 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 863210 863210 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:863210C>A ENST00000537687.1 + 1 1122 c.479C>A c.(478-480)aCc>aAc p.T160N WNK1_ENST00000447667.2_Missense_Mutation_p.T160N|WNK1_ENST00000535572.1_Missense_Mutation_p.T160N|WNK1_ENST00000315939.6_Missense_Mutation_p.T160N|WNK1_ENST00000530271.2_Missense_Mutation_p.T160N NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 160 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCCAGCAGTACCAGCAAAGAC 0.721000 7 21 0.00198382 0.00210327 1 1 0 RYR1 6261 broad.mit.edu 37 19 39002948 39002948 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:39002948C>T ENST00000355481.4 + 63 9428 c.9297C>T c.(9295-9297)gcC>gcT p.A3099A RYR1_ENST00000359596.3_Silent_p.A3099A|RYR1_ENST00000360985.3_Silent_p.A3099A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3099 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) TCGAGAGTGCCTCGGAGGACA 0.612000 51 51 0 0 1 0 0 DNAJA3 9093 broad.mit.edu 37 16 4484477 4484477 + Nonsense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:4484477C>T ENST00000262375.6 + 2 381 c.304C>T c.(304-306)Cga>Tga p.R102* DNAJA3_ENST00000572139.1_3'UTR|DNAJA3_ENST00000355296.4_Nonsense_Mutation_p.R102*|DNAJA3_ENST00000431375.2_Intron NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 102 J. activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2) 15 AGGAGTGCCTCGAAATGCCAG 0.413000 20 143 0 0 1 0 0 MND1 84057 broad.mit.edu 37 4 154318395 154318395 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:154318395G>T ENST00000240488.3 + 6 465 c.376G>T c.(376-378)Gag>Tag p.E126* MND1_ENST00000504860.1_Nonsense_Mutation_p.E111* NM_001253861.1|NM_032117.3 NP_001240790.1|NP_115493.1 Q9BWT6 MND1_HUMAN meiotic nuclear divisions 1 homolog (S. cerevisiae) 126 DNA recombination|meiosis nucleus DNA binding large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) GCTAGCAAAAGAGCTTTCTTC 0.358000 3 19 0.004672 0.00490585 1 1 0 RYR2 6262 broad.mit.edu 37 1 237777698 237777698 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:237777698T>A ENST00000366574.2 + 37 5587 c.5270T>A c.(5269-5271)cTc>cAc p.L1757H RYR2_ENST00000542537.1_Missense_Mutation_p.L1741H|RYR2_ENST00000360064.6_Missense_Mutation_p.L1755H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1757 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCACCTCCCTCAGGCCACGG 0.512000 11 82 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119678977 119678977 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:119678977T>C ENST00000379735.5 - 11 1594 c.1323A>G c.(1321-1323)ccA>ccG p.P441P SEC24D_ENST00000511481.1_Silent_p.P71P|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.P440P|SEC24D_ENST00000429811.2_5'UTR|SEC24D_ENST00000505134.1_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 440 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 zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 AGATAAAGGCTGGTGGGTTGG 0.338000 9 37 0 0 1 0 0 ABHD5 51099 broad.mit.edu 37 3 43744032 43744032 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:43744032C>A ENST00000458276.2 + 3 582 c.459C>A c.(457-459)aaC>aaA p.N153K NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 153 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TTGGGCACAACCTAGGTGGAT 0.463000 26 112 3.01185e-09 3.86677e-09 1 1 0 UPF2 26019 broad.mit.edu 37 10 12039734 12039734 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:12039734T>C ENST00000356352.2 - 7 2254 c.1781A>G c.(1780-1782)aAc>aGc p.N594S UPF2_ENST00000357604.5_Missense_Mutation_p.N594S|UPF2_ENST00000397053.2_Missense_Mutation_p.N594S Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 594 MIF4G 2. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TGTGTTCATGTTCATGCAAAA 0.343000 9 54 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89324063 89324063 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:89324063C>T ENST00000369485.4 - 15 1744 c.1558G>A c.(1558-1560)Gag>Aag p.E520K RNGTT_ENST00000265607.6_Missense_Mutation_p.E497K|RNGTT_ENST00000538899.1_Missense_Mutation_p.E437K NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 520 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) CTGTTGTTCTCAAATTTGCAT 0.358000 5 39 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 156184638 156184638 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:156184638G>A ENST00000435422.3 + 7 1106 c.619G>A c.(619-621)Gtg>Atg p.V207M SGCD_ENST00000447401.1_Missense_Mutation_p.V208M|SGCD_ENST00000517913.1_Missense_Mutation_p.V208M|SGCD_ENST00000337851.4_Missense_Mutation_p.V208M NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 207 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCCAAAAGGAGTGGAAATCAA 0.468000 4 12 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117662732 117662732 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:117662732C>A ENST00000368508.3 - 29 4931 c.4733G>T c.(4732-4734)tGg>tTg p.W1578L GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.W1572L NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1578 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGATTCTCTCCAAGATATAAT 0.433000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 56 2.27111e-07 2.75778e-07 1 1 0 RCC1 1104 broad.mit.edu 37 1 28861843 28861843 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:28861843A>G ENST00000373833.6 + 9 897 c.612A>G c.(610-612)ctA>ctG p.L204L RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Silent_p.L204L|RCC1_ENST00000373831.3_Silent_p.L235L|RCC1_ENST00000398958.2_Silent_p.L204L P18754 RCC1_HUMAN regulator of chromosome condensation 1 204 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCCAGCTAGGCCGTGTGC 0.587000 16 63 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57334188 57334188 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:57334188G>T ENST00000326441.9 - 6 861 c.498C>A c.(496-498)gaC>gaA p.D166E PEG3_ENST00000598410.1_Missense_Mutation_p.D41E|ZIM2_ENST00000601070.1_Missense_Mutation_p.D41E|PEG3_ENST00000593695.1_Missense_Mutation_p.D40E|PEG3_ENST00000423103.2_Missense_Mutation_p.D166E|ZIM2_ENST00000391708.3_Missense_Mutation_p.D41E|ZIM2_ENST00000599935.1_Missense_Mutation_p.D41E|ZIM2_ENST00000221722.5_Missense_Mutation_p.D41E|ZIM2_ENST00000593711.1_Missense_Mutation_p.D41E|ZIM2_ENST00000593931.1_Missense_Mutation_p.D41E NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 166 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGCCCCTCCGGTCCCAGTCCC 0.542000 10 10 4.68919e-08 5.86e-08 1 1 0 HFM1 164045 broad.mit.edu 37 1 91781454 91781454 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:91781454T>C ENST00000370425.3 - 28 3156 c.3058A>G c.(3058-3060)Aaa>Gaa p.K1020E HFM1_ENST00000294696.5_Missense_Mutation_p.K252E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.K699E NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1020 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GCTGTTCTTTTAGTTTGTAGC 0.313000 25 28 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29671540 29671540 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:29671540C>A ENST00000256062.5 - 13 2038 c.1564_splice c.e13-1 p.G522_splice TMTC1_ENST00000552618.1_Splice_Site_p.G654_splice|TMTC1_ENST00000539277.1_Splice_Site_p.G630_splice|TMTC1_ENST00000551659.1_Splice_Site_p.G692_splice|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 630 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTCTGGTAAGCCTGTAACCAG 0.433000 58 142 6.3237e-29 9.65196e-29 1 1 0 PCYOX1 51449 broad.mit.edu 37 2 70502790 70502790 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:70502790A>G ENST00000433351.2 + 5 879 c.851A>G c.(850-852)aAg>aGg p.K284R PCYOX1_ENST00000505044.2_Missense_Mutation_p.K207R|PCYOX1_ENST00000545138.1_Missense_Mutation_p.K206R|PCYOX1_ENST00000264441.5_Missense_Mutation_p.K284R NM_016297.3 NP_057381.3 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 284 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6) 15 ACAAAGACCAAGTACACAGGT 0.413000 13 67 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51900449 51900449 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:51900449C>A ENST00000371117.3 - 28 3443 c.3168G>T c.(3166-3168)tcG>tcT p.S1056S PKHD1_ENST00000340994.4_Silent_p.S1056S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1056 IPT/TIG 5. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGATGGCACACGAGTAAGATC 0.453000 36 89 9.8876e-21 1.46825e-20 1 1 0 CHD6 84181 broad.mit.edu 37 20 40049640 40049640 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:40049640C>A ENST00000373233.3 - 31 5812 c.5635G>T c.(5635-5637)Gcc>Tcc p.A1879S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1879 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) ACTGCCATGGCTAAgttttcc 0.438000 34 65 1.62565e-12 2.22007e-12 1 1 0 MIR891B 100126304 broad.mit.edu 37 X 145082581 145082581 + RNA SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:145082581C>A ENST00000401245.1 - 0 68 NR_030590.1 tcttttgaccctaacaacaaa 0.398000 12 18 1.61879e-10 2.12817e-10 1 1 0 SAP130 79595 broad.mit.edu 37 2 128747167 128747167 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:128747167T>A ENST00000357702.5 - 13 1960 c.1829A>T c.(1828-1830)cAg>cTg p.Q610L SAP130_ENST00000259235.3_Missense_Mutation_p.Q610L|SAP130_ENST00000259234.6_Missense_Mutation_p.Q584L NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 610 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) CTGAGGCTGCTGAGTACCCAT 0.468000 11 84 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67864551 67864551 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:67864551T>G ENST00000265689.4 - 2 423 c.397A>C c.(397-399)Aca>Cca p.T133P CHKA_ENST00000356135.5_Missense_Mutation_p.T133P NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 133 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) AGGGTGGCTGTGGTGTCAGGT 0.522000 9 45 0 0 1 0 0 TMEM106B 54664 broad.mit.edu 37 7 12263979 12263979 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:12263979G>T ENST00000396667.2 + 5 731 c.409G>T c.(409-411)Gtt>Ttt p.V137F TMEM106B_ENST00000396668.3_Missense_Mutation_p.V137F NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 137 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CAGTTATGATGTTCAGAAGCG 0.343000 16 105 2.62699e-14 3.7003e-14 1 1 0 PITX3 5309 broad.mit.edu 37 10 103990789 103990789 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:103990789C>T ENST00000370002.3 - 4 544 c.391G>A c.(391-393)Ggc>Agc p.G131S PITX3_ENST00000539804.1_Missense_Mutation_p.G131S NM_005029.3 NP_005020.1 O75364 PITX3_HUMAN paired-like homeodomain 3 131 dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(2) 5 Colorectal(252;0.00957) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCGAAGCTGCCTTTGCATAGC 0.706000 6 13 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33204922 33204922 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:33204922G>A ENST00000280979.4 + 11 3376 c.3206G>A c.(3205-3207)cGt>cAt p.R1069H AKAP6_ENST00000557272.1_Missense_Mutation_p.R1069H NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1069 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) TCGAGTCCACGTGACCTGCTC 0.448000 7 125 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624196 53624196 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:53624196G>C ENST00000219022.2 + 5 901 c.823G>C c.(823-825)Ggt>Cgt p.G275R NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 275 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TGGTGCTTGGGGTAGGGATTA 0.473000 16 57 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549259 23549259 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:23549259T>C ENST00000262710.1 - 6 1786 c.1459A>G c.(1459-1461)Aaa>Gaa p.K487E ACIN1_ENST00000605057.1_Missense_Mutation_p.K429E|ACIN1_ENST00000457657.1_Missense_Mutation_p.K447E|ACIN1_ENST00000555053.1_Missense_Mutation_p.K487E NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 487 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GATTCTGCTTTGGTGTCTGAA 0.502000 62 135 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70601699 70601699 + Silent SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:70601699T>G ENST00000449580.1 + 9 1515 c.1464T>G c.(1462-1464)gcT>gcG p.A488A TAF1_ENST00000423759.1_Silent_p.A509A|TAF1_ENST00000373790.4_Silent_p.A488A|TAF1_ENST00000276072.3_Silent_p.A509A P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 488 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TTTGGGATGCTCAGGCCATGC 0.468000 19 62 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394876 164394876 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:164394876T>C ENST00000280605.3 - 1 171 c.11A>G c.(10-12)aAc>aGc p.N4S NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 4 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTTGGCGTCGTTGGCCATCAT 0.652000 10 35 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51853647 51853647 + Splice_Site SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:51853647T>A ENST00000354232.4 - 3 3116 c.e3-2 ETFB_ENST00000309244.4_Splice_Site|CTD-2616J11.11_ENST00000600067.1_Splice_Site|CTD-2616J11.9_ENST00000600974.1_RNA NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) atcgatggcctgaatggggag 0.512000 2 7 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926197 1926197 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:1926197C>T ENST00000399161.2 - 10 2091 c.1344G>A c.(1342-1344)atG>atA p.M448I MYT1L_ENST00000428368.2_Missense_Mutation_p.M448I NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 448 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TCTTCTCCCTCATGGCCTTTG 0.532000 17 132 0 0 1 0 0 KRT10 3858 broad.mit.edu 37 17 38978810 38978810 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:38978810G>T ENST00000269576.5 - 1 37 c.28C>A c.(28-30)Cac>Aac p.H10N TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 10 Head. KHY -> SKQF (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) GAAGAGTAGTGCTTGCTTGAG 0.532000 5 43 0.014758 0.0152052 1 1 0 RRP9 9136 broad.mit.edu 37 3 51969674 51969674 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:51969674T>C ENST00000232888.6 - 9 843 c.770A>G c.(769-771)tAc>tGc p.Y257C NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 257 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GGATGTGCTGTAGAGCTGGTG 0.607000 4 46 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43617207 43617207 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:43617207T>C ENST00000360835.3 - 13 1647 c.1521A>G c.(1519-1521)gcA>gcG p.A507A NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 507 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGGTCTCCTTTGCTCGTGCCT 0.657000 5 36 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906114 164906114 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:164906114G>T ENST00000475390.1 - 2 2948 c.2505C>A c.(2503-2505)caC>caA p.H835Q SLITRK3_ENST00000241274.3_Missense_Mutation_p.H835Q O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 835 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GAGGGTGATGGTGATTCACCG 0.552000 HNSCC(40;0.11) 22 143 5.26018e-13 7.27424e-13 1 1 0 ZNF628 89887 broad.mit.edu 37 19 55995147 55995147 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:55995147A>T ENST00000598519.1 + 3 3140 c.2587A>T c.(2587-2589)Acc>Tcc p.T863S ZNF628_ENST00000391718.2_Missense_Mutation_p.T859S NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 859 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) ACAGGAGGTGACCACGGTCCA 0.652000 7 33 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57963140 57963140 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:57963140C>T ENST00000455537.2 + 10 1195 c.921C>T c.(919-921)tcC>tcT p.S307S KIF5A_ENST00000286452.5_Silent_p.S218S NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 307 Kinesin-motor.|Microtubule-binding. 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 GCTCACCATCCAGTTATAATG 0.532000 16 134 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163393468 163393468 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:163393468C>A ENST00000332142.5 - 3 529 c.430G>T c.(430-432)Gta>Tta p.V144L KCNH7_ENST00000328032.4_Missense_Mutation_p.V144L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 144 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ATTGGGTTTACCCTCTCTGGG 0.378000 13 113 0.000308642 0.000336266 1 1 0 ICAM5 7087 broad.mit.edu 37 19 10405196 10405196 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:10405196C>T ENST00000221980.4 + 9 2173 c.2110C>T c.(2110-2112)Cgg>Tgg p.R704W NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 704 Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCGCTGCTCTCGGGAAGGCAT 0.687000 10 60 0 0 1 0 0 LGALS9 3965 broad.mit.edu 37 17 25967683 25967683 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:25967683G>C ENST00000395473.2 + 3 1685 c.217G>C c.(217-219)Gtg>Ctg p.V73L LGALS9_ENST00000413914.2_Missense_Mutation_p.V16L|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.V73L|LGALS9_ENST00000313648.6_Missense_Mutation_p.V73L|LGALS9_ENST00000302228.5_Missense_Mutation_p.V73L|AC015688.3_ENST00000584605.1_3'UTR NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 73 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) AGGGTACGTGGTGTGCAACAC 0.547000 21 112 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43543193 43543193 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:43543193T>C ENST00000306846.3 - 4 879 c.647A>G c.(646-648)tAt>tGt p.Y216C PAIP1_ENST00000338972.4_Missense_Mutation_p.Y104C|PAIP1_ENST00000514514.1_Missense_Mutation_p.Y137C|PAIP1_ENST00000436644.2_Missense_Mutation_p.Y137C NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 216 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) AGCTCCCATATAAGAGAAATT 0.373000 61 61 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89498398 89498398 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:89498398G>T ENST00000336596.2 + 14 2595 c.2370G>T c.(2368-2370)tgG>tgT p.W790C EPHA3_ENST00000494014.1_Missense_Mutation_p.W790C NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 790 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATCAGGTGGACATCACCAG 0.418000 TSP Lung(6;0.00050) 11 117 0.000673444 0.0007257 1 1 0 SORCS1 114815 broad.mit.edu 37 10 108337197 108337197 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:108337197C>T ENST00000263054.6 - 26 3495 c.3488G>A c.(3487-3489)gGg>gAg p.G1163E SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1163 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATACTGTGCCCCAGCAGATCC 0.522000 16 106 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703878 60703878 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:60703878C>G ENST00000005286.4 + 11 2727 c.2574C>G c.(2572-2574)ttC>ttG p.F858L TMEM132A_ENST00000453848.2_Missense_Mutation_p.F857L NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 857 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGGGAGTCTTCTGCGTGGCCA 0.602000 27 166 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208252666 208252666 + Missense_Mutation SNP G G A rs143711247 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:208252666G>A ENST00000367033.3 - 12 3282 c.2525C>T c.(2524-2526)tCc>tTc p.S842F NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 842 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CCAGGGGCTGGAAGGGCTGGT 0.622000 4 49 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879210 209879210 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:209879210G>A ENST00000367028.2 + 3 312 c.143G>A c.(142-144)aGa>aAa p.R48K HSD11B1_ENST00000261465.1_Missense_Mutation_p.R48K|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R48K NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 48 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GGGATCGGAAGAGAGATGGCT 0.517000 21 76 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55224689 55224689 + RNA SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:55224689G>T ENST00000413439.1 + 0 1861 TGCTGCTTTAGGATTGGCACA 0.547000 7 16 5.18039e-06 6.03767e-06 1 1 0 GREB1 9687 broad.mit.edu 37 2 11750901 11750901 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:11750901G>T ENST00000381486.2 + 18 3054 c.2754G>T c.(2752-2754)ccG>ccT p.P918P GREB1_ENST00000234142.5_Silent_p.P918P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 918 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GCGGCCTCCCGCAGATGAAGA 0.642000 16 73 6.31663e-08 7.82436e-08 1 1 0 ASTN1 460 broad.mit.edu 37 1 177001821 177001821 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:177001821G>T ENST00000367654.2 - 3 649 c.636C>A c.(634-636)caC>caA p.H212Q ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.H212Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.H212Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.H212Q O14525 ASTN1_HUMAN astrotactin 1 212 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTCCCGTCCGTGCCCGCCGA 0.627000 15 93 1.99824e-07 2.43543e-07 1 1 0 FGF13 2258 broad.mit.edu 37 X 137785247 137785247 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:137785247G>A ENST00000315930.6 - 3 962 c.301C>T c.(301-303)Ctg>Ttg p.L101L FGF13_ENST00000370603.3_Silent_p.L111L|FGF13_ENST00000441825.2_Silent_p.L82L|FGF13_ENST00000305414.4_Silent_p.L48L|FGF13_ENST00000541469.1_Silent_p.L55L NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 101 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) AGGTTAAACAGAGCTGAAATT 0.423000 19 37 0 0 1 0 0 CPOX 1371 broad.mit.edu 37 3 98299601 98299601 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:98299601G>A ENST00000264193.2 - 7 1509 c.1291C>T c.(1291-1293)Cat>Tat p.H431Y NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 431 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 GAGGGTGAATGCATGTACTCC 0.403000 5 60 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170965720 170965720 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:170965720G>A ENST00000367759.4 + 14 1564 c.1410G>A c.(1408-1410)aaG>aaA p.K470K MROH9_ENST00000367758.3_Silent_p.K470K NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 CTCTAATGAAGGAGAATTTCT 0.438000 14 151 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4104590 4104590 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:4104590G>T ENST00000300737.4 + 10 1905 c.1336G>T c.(1336-1338)Ggc>Tgc p.G446C STIM1_ENST00000533977.1_Missense_Mutation_p.G273C|STIM1_ENST00000527651.1_Missense_Mutation_p.G446C NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 446 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) CAACAACCCTGGCATCCACTC 0.587000 16 59 1.62849e-17 2.35784e-17 1 1 0 CHRNA5 1138 broad.mit.edu 37 15 78885589 78885589 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:78885589T>A ENST00000299565.5 + 6 1601 c.1401T>A c.(1399-1401)aaT>aaA p.N467K CHRNA3_ENST00000348639.3_Intron|CHRNA5_ENST00000559554.1_3'UTR NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 467 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 GAAATGCAAATAAGTGAAGCC 0.303000 5 22 0 0 1 0 0 LCE2C 353140 broad.mit.edu 37 1 152648786 152648786 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:152648786G>T ENST00000368783.1 + 2 350 c.295G>T c.(295-297)Ggc>Tgc p.G99C LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 99 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTTCTGGGGGCTCTGGCTG 0.647000 21 153 3.8784e-16 5.55829e-16 1 1 0 ASPM 259266 broad.mit.edu 37 1 197073035 197073035 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:197073035C>G ENST00000367409.4 - 18 5602 c.5346G>C c.(5344-5346)caG>caC p.Q1782H ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1782 IQ 7. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GATAGTAATTCTGAATGACAA 0.358000 21 114 0 0 1 0 0 TTC9C 283237 broad.mit.edu 37 11 62496497 62496497 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:62496497C>T ENST00000513247.2 + 2 828 c.576C>T c.(574-576)ctC>ctT p.L192L TTC9C_ENST00000316461.4_Silent_p.L59L|TTC9C_ENST00000532583.1_Silent_p.L59L Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 59 binding breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 GCCCGGCCCTCACGCCTGAAC 0.532000 11 57 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65156383 65156383 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:65156383G>T ENST00000358691.5 - 17 2337 c.2171C>A c.(2170-2172)cCt>cAt p.P724H HELZ_ENST00000580168.1_Missense_Mutation_p.P725H NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ATACCTGAGAGGTCTTGCCTG 0.343000 5 40 0.00116845 0.00124685 1 1 0 FLG2 388698 broad.mit.edu 37 1 152326897 152326897 + Nonsense_Mutation SNP G G T rs147962757 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:152326897G>T ENST00000388718.5 - 3 3437 c.3365C>A c.(3364-3366)tCa>tAa p.S1122* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1122 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACTGACCTGAGCCCGATCC 0.507000 239 323 3.77748e-100 5.85628e-100 1 1 0 DRD5 1816 broad.mit.edu 37 4 9783976 9783976 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:9783976C>A ENST00000304374.2 + 1 719 c.323C>A c.(322-324)cCc>cAc p.P108H NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 108 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGTTACTGGCCCTTTGGAGCG 0.612000 9 54 5.68852e-11 7.60012e-11 1 1 0 SF3B4 10262 broad.mit.edu 37 1 149895781 149895781 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:149895781G>T ENST00000271628.8 - 5 1623 c.1039C>A c.(1039-1041)Cct>Act p.P347T NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 347 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCCATTGGAGGAGGTCCAGGA 0.632000 4 20 0.150653 0.151731 1 1 0 CELSR2 1952 broad.mit.edu 37 1 109795265 109795265 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:109795265A>T ENST00000271332.3 + 1 2625 c.2564A>T c.(2563-2565)cAa>cTa p.Q855L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 855 Cadherin 7. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TACACCTTCCAAGGAGGCGAC 0.547000 21 67 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215987204 215987204 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:215987204G>T ENST00000366943.2 - 49 9999 c.9613C>A c.(9613-9615)Cgc>Agc p.R3205S USH2A_ENST00000307340.3_Missense_Mutation_p.R3205S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3205 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCACAACAGCGATGTCCAGGC 0.408000 HNSCC(13;0.011) 6 61 5.9392e-07 7.09824e-07 1 1 0 UNC79 57578 broad.mit.edu 37 14 94173139 94173139 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:94173139G>T ENST00000553484.1 + 51 8017 c.7863G>T c.(7861-7863)caG>caT p.Q2621H UNC79_ENST00000393151.2_Missense_Mutation_p.Q2599H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q2560H|UNC79_ENST00000256339.4_Missense_Mutation_p.Q2422H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2599 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCTCGGGCCAGAGCAGTGCTG 0.577000 27 49 1.17739e-12 1.61237e-12 1 1 0 CES1P1 51716 broad.mit.edu 37 16 55794593 55794593 + RNA SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:55794593T>A ENST00000571348.1 + 0 83 NR_003276.2 TCTCGCTGCTTCCGCGGCTTG 0.597000 6 49 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111297999 111297999 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:111297999C>T ENST00000352690.4 + 4 909 c.669C>T c.(667-669)ttC>ttT p.F223F CD96_ENST00000283285.5_Silent_p.F239F|CD96_ENST00000438817.2_Silent_p.F223F NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 239 Ig-like V-type 2. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TCCAAATCTTCGATGATGGGC 0.438000 Opitz Trigonocephaly syndrome 19 85 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114288811 114288811 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:114288811C>T ENST00000357077.4 + 42 11175 c.11122C>T c.(11122-11124)Cac>Tac p.H3708Y ANK2_ENST00000264366.6_Missense_Mutation_p.H3675Y|ANK2_ENST00000510275.2_Missense_Mutation_p.H275Y|ANK2_ENST00000394537.3_Missense_Mutation_p.H1623Y|ANK2_ENST00000509550.1_Missense_Mutation_p.H799Y|ANK2_ENST00000506722.1_Missense_Mutation_p.H1614Y NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3675 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GACCTGCGATCACCCTCCTAT 0.488000 15 47 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489419 133489419 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:133489419G>A ENST00000409261.1 - 17 5707 c.5334C>T c.(5332-5334)gaC>gaT p.D1778D NCKAP5_ENST00000317721.6_Silent_p.D1778D|NCKAP5_ENST00000409213.1_Silent_p.D459D|NCKAP5_ENST00000405974.3_Silent_p.D459D NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1778 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGCGCTGGCCGTCTGTGGAGG 0.592000 12 82 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891795 6891795 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:6891795C>A ENST00000307322.4 + 1 872 c.810C>A c.(808-810)ccC>ccA p.P270P NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P270P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TTATGACTCCCATGTTGAACC 0.448000 17 142 1.33834e-09 1.72949e-09 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155287503 155287503 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:155287503T>A ENST00000357232.3 - 5 552 c.553A>T c.(553-555)Agc>Tgc p.S185C DCHS2_ENST00000339452.1_Missense_Mutation_p.S779C NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 185 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCACTGATGCTCGTCACATAG 0.507000 14 39 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68544212 68544212 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:68544212C>A ENST00000322244.4 - 5 357 c.298G>T c.(298-300)Gat>Tat p.D100Y UBA6_ENST00000420827.2_Missense_Mutation_p.D100Y NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 100 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GTTCCTAGATCCCATGCTTGG 0.323000 6 34 0.0215528 0.0220675 1 1 0 CCDC91 55297 broad.mit.edu 37 12 28459817 28459817 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:28459817A>G ENST00000545336.1 + 8 829 c.410A>G c.(409-411)aAa>aGa p.K137R CCDC91_ENST00000539107.1_Missense_Mutation_p.K137R|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Missense_Mutation_p.K137R|CCDC91_ENST00000381256.1_Missense_Mutation_p.K137R|CCDC91_ENST00000306172.5_Missense_Mutation_p.K107R Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 137 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) CTTCAGCAAAAAATTTCAAGT 0.338000 15 44 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216741360 216741360 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:216741360G>T ENST00000391890.3 - 6 1118 c.601C>A c.(601-603)Cct>Act p.P201T ESRRG_ENST00000366937.1_Missense_Mutation_p.P229T|ESRRG_ENST00000493748.1_Missense_Mutation_p.P201T|ESRRG_ENST00000360012.3_Missense_Mutation_p.P201T|ESRRG_ENST00000487276.1_Missense_Mutation_p.P201T|ESRRG_ENST00000366940.2_Missense_Mutation_p.P201T|ESRRG_ENST00000361525.3_Missense_Mutation_p.P201T|ESRRG_ENST00000493603.1_Missense_Mutation_p.P201T|ESRRG_ENST00000366938.2_Missense_Mutation_p.P201T|ESRRG_ENST00000359162.2_Missense_Mutation_p.P201T|ESRRG_ENST00000463665.1_Missense_Mutation_p.P162T|ESRRG_ENST00000408911.3_Missense_Mutation_p.P224T|ESRRG_ENST00000361395.2_Missense_Mutation_p.P201T NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 224 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) ACCAGCTGAGGGTTCAGGTAT 0.532000 33 87 6.97489e-18 1.01434e-17 1 1 0 RUNX3 864 broad.mit.edu 37 1 25254205 25254205 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:25254205T>A ENST00000399916.1 - 3 779 c.341A>T c.(340-342)gAc>gTc p.D114V RUNX3_ENST00000308873.6_Missense_Mutation_p.D100V|RUNX3_ENST00000540420.1_Missense_Mutation_p.D7V|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Missense_Mutation_p.D114V NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 100 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) ATCCGGCACGTCCCCCAATGC 0.632000 42 117 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17349885 17349885 + Splice_Site SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:17349885G>C ENST00000262545.2 + 5 821 c.505_splice c.e5-1 p.G169_splice PCSK2_ENST00000377899.1_Splice_Site_p.G150_splice|PCSK2_ENST00000536609.1_Splice_Site_p.G134_splice NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 169 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTTTCACAGGGATTGACTAT 0.493000 5 26 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150061872 150061872 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:150061872A>G ENST00000409642.3 + 4 584 c.183A>G c.(181-183)gcA>gcG p.A61A LYPD6B_ENST00000409876.1_Silent_p.A37A|LYPD6B_ENST00000409029.1_Silent_p.A37A|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.A61A NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 37 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 AAAGCTGGGCATTTGCCAAGA 0.512000 71 195 0 0 1 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69344567 69344567 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:69344567G>T ENST00000305363.4 + 9 1032 c.967_splice c.e9-1 p.G323_splice NM_014058.3 NP_054777.2 Q9UL52 TM11E_HUMAN transmembrane protease, serine 11E 323 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TTTCTTTTAGGTTACAGTCAA 0.348000 16 115 1.02788e-11 1.38835e-11 1 1 0 TNR 7143 broad.mit.edu 37 1 175375358 175375358 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:175375358C>A ENST00000367674.1 - 3 1201 c.493G>T c.(493-495)Gcc>Tcc p.A165S TNR_ENST00000263525.2_Missense_Mutation_p.A165S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 165 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTACCTGTGGCAGCACTTTCT 0.612000 36 73 4.65686e-17 6.70316e-17 1 1 0 MROH9 80133 broad.mit.edu 37 1 170965721 170965721 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:170965721G>T ENST00000367759.4 + 14 1565 c.1411G>T c.(1411-1413)Gag>Tag p.E471* MROH9_ENST00000367758.3_Nonsense_Mutation_p.E471* NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TCTAATGAAGGAGAATTTCTG 0.438000 14 149 2.61681e-11 3.52483e-11 1 1 0 CD34 947 broad.mit.edu 37 1 208084357 208084357 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:208084357C>T ENST00000356522.4 - 1 390 c.69G>A c.(67-69)ctG>ctA p.L23L CD34_ENST00000537704.1_5'UTR|CD34_ENST00000310833.7_Silent_p.L23L NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 23 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GCAGCAAACTCAGCAAGCAAA 0.711000 3 14 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94772612 94772612 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:94772612C>A ENST00000397809.5 - 7 1305 c.756G>T c.(754-756)caG>caT p.Q252H CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.Q252H|CCDC41_ENST00000339839.5_Missense_Mutation_p.Q252H|CCDC41_ENST00000397807.2_Missense_Mutation_p.Q219H NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 244 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 ACTGCCGCACCTGTATTCTTT 0.418000 20 125 1.01871e-10 1.34826e-10 1 1 0 FMOD 2331 broad.mit.edu 37 1 203316985 203316985 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:203316985G>A ENST00000354955.4 - 2 877 c.414C>T c.(412-414)ggC>ggT p.G138G FMOD_ENST00000464898.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 138 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) TGATCTGGTTGCCGTGGAGAG 0.562000 9 75 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811043 23811043 + Silent SNP C C A rs143204731 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:23811043C>A ENST00000314520.3 + 1 590 c.114C>A c.(112-114)tcC>tcA p.S38S MKRN3_ENST00000564592.1_Silent_p.S38S|MKRN3_ENST00000568252.1_Silent_p.S38S NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 38 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGAGCCCTCCGGGGAATCTG 0.692000 12 54 6.40141e-05 7.11589e-05 1 1 0 MAP4K3 8491 broad.mit.edu 37 2 39559121 39559121 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:39559121C>A ENST00000263881.3 - 8 791 c.467G>T c.(466-468)gGa>gTa p.G156V MAP4K3_ENST00000437545.1_Missense_Mutation_p.G93V|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G156V NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 156 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TGCAGATACTCCAAAATCAGC 0.269000 6 17 0.00307968 0.00324766 1 1 0 RFWD2 64326 broad.mit.edu 37 1 176132971 176132971 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:176132971C>A ENST00000367669.3 - 4 1136 c.622G>T c.(622-624)Gac>Tac p.D208Y RFWD2_ENST00000308769.8_Missense_Mutation_p.D208Y NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 208 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ACTGAGTGGTCCAATTTGAAC 0.269000 10 19 7.48243e-07 8.91024e-07 1 1 0 CHD7 55636 broad.mit.edu 37 8 61777757 61777757 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:61777757G>T ENST00000423902.2 + 38 8738 c.8259G>T c.(8257-8259)atG>atT p.M2753I CHD7_ENST00000524602.1_Missense_Mutation_p.M704I NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2753 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTGCTGGAATGGACCTGACGA 0.627000 5 19 0.000602214 0.000652509 1 1 0 CPED1 79974 broad.mit.edu 37 7 120770217 120770217 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:120770217G>T ENST00000310396.5 + 12 1913 c.1446G>T c.(1444-1446)atG>atT p.M482I CPED1_ENST00000450913.2_Missense_Mutation_p.M482I|CPED1_ENST00000423795.1_Missense_Mutation_p.M262I NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AGTCACTGATGCATGAATTTT 0.358000 58 94 6.20203e-27 9.39356e-27 1 1 0 CENPF 1063 broad.mit.edu 37 1 214818975 214818975 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:214818975C>G ENST00000366955.3 + 13 6230 c.6062C>G c.(6061-6063)tCt>tGt p.S2021C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2117 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.S2021C(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACTTTGTCCTCTGATGTGAGT 0.458000 13 101 0 0 1 0 0 UGT1A4 54657 broad.mit.edu 37 2 234628226 234628226 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:234628226G>C ENST00000373409.3 + 1 803 c.760G>C c.(760-762)Gtg>Ctg p.V254L UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) CTATGCATCCGTGTGGCTGTT 0.522000 31 307 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62932056 62932056 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:62932056G>A ENST00000393630.3 + 18 2615 c.2224G>A c.(2224-2226)Gat>Aat p.D742N MON2_ENST00000393632.2_Missense_Mutation_p.D742N|MON2_ENST00000552738.1_Missense_Mutation_p.D719N|MON2_ENST00000546600.1_Missense_Mutation_p.D742N|MON2_ENST00000393629.2_Missense_Mutation_p.D742N|MON2_ENST00000552115.1_Missense_Mutation_p.D742N|MON2_ENST00000280379.6_Missense_Mutation_p.D742N NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 742 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AGTGATGACAGATTTACCAGT 0.294000 13 73 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237754132 237754132 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:237754132T>A ENST00000366574.2 + 31 4317 c.4000T>A c.(4000-4002)Ttg>Atg p.L1334M RYR2_ENST00000542537.1_Missense_Mutation_p.L1318M|RYR2_ENST00000360064.6_Missense_Mutation_p.L1332M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1334 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.L1332M(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAAGAATGACTTGGAAGATTA 0.517000 42 97 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154221352 154221352 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:154221352T>C ENST00000360256.4 - 4 660 c.460A>G c.(460-462)Aca>Gca p.T154A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 154 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAGACATATGTATGGCTTCCA 0.433000 72 91 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48583469 48583469 + Translation_Start_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:48583469G>A ENST00000264319.7 - 0 2744 FRYL_ENST00000503238.1_Missense_Mutation_p.R714W|FRYL_ENST00000506685.1_Missense_Mutation_p.R420W|FRYL_ENST00000537810.1_Missense_Mutation_p.R714W|FRYL_ENST00000507711.1_Missense_Mutation_p.R714W|FRYL_ENST00000358350.4_Missense_Mutation_p.R714W O94915 FRYL_HUMAN FRY-like regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.R714W(1) 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 AATAAAGCCCGTATTTCTCTA 0.403000 9 55 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52447483 52447483 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:52447483G>T ENST00000293471.6 + 6 1026 c.347G>T c.(346-348)aGg>aTg p.R116M ZNF613_ENST00000391794.4_Missense_Mutation_p.R80M NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) ATTCATCAGAGGAAAAGTGAT 0.333000 12 17 2.27111e-07 2.75778e-07 1 1 0 KLHL32 114792 broad.mit.edu 37 6 97533169 97533169 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:97533169G>A ENST00000369261.4 + 6 942 c.579G>A c.(577-579)gtG>gtA p.V193V KLHL32_ENST00000536676.1_Silent_p.V157V|KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.V124V NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 193 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) TTCAGGAGGTGCTGAAGAGCG 0.527000 11 60 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117810734 117810734 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:117810734C>G ENST00000350763.4 - 16 5068 c.4657G>C c.(4657-4659)Gag>Cag p.E1553Q TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.E1189Q|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000537320.1_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1553 Fibronectin type-III 11. 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 AAGGCATTCTCCGATGCCATC 0.512000 13 39 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119217190 119217190 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:119217190C>A ENST00000555262.1 - 1 193 c.34G>T c.(34-36)Gag>Tag p.E12* MFRP_ENST00000360167.4_Nonsense_Mutation_p.E12*|MFRP_ENST00000449574.2_Nonsense_Mutation_p.E12*|MFRP_ENST00000530681.1_Nonsense_Mutation_p.E12*|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) TCTGTTGCCTCCATGCAGAGG 0.567000 9 56 3.86212e-05 4.31752e-05 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26164561 26164561 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:26164561A>T ENST00000335473.7 + 4 928 c.678A>T c.(676-678)caA>caT p.Q226H MYO18B_ENST00000407587.2_Missense_Mutation_p.Q226H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q226H NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 226 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCCAGGCCAAGGAACTGTGG 0.617000 3 18 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150801705 150801705 + Splice_Site SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:150801705T>C ENST00000358595.5 - 12 1233 c.e12-2 ARNT_ENST00000515192.1_Splice_Site|ARNT_ENST00000354396.2_Splice_Site|ARNT_ENST00000505755.1_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) ACTAGTTACCTGAGAGTGAAG 0.373000 T ETV6 AML 14 127 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 628498 628498 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:628498C>A ENST00000255622.6 + 2 544 c.501C>A c.(499-501)ctC>ctA p.L167L PDE6B_ENST00000496514.1_Silent_p.L167L NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 167 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGACGAGCTCACTGACTACA 0.562000 24 99 2.39556e-15 3.39372e-15 1 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18066953 18066953 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:18066953G>T ENST00000506618.2 - 1 533 c.453C>A c.(451-453)gtC>gtA p.V151V NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 151 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TCCACTTCAGGACAGTTGGCT 0.463000 14 117 6.31663e-08 7.82436e-08 1 1 0 ZNF512B 57473 broad.mit.edu 37 20 62599191 62599191 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:62599191G>A ENST00000450537.1 - 2 173 c.113C>T c.(112-114)cCg>cTg p.P38L ZNF512B_ENST00000369888.1_Missense_Mutation_p.P38L|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P38L Q96KM6 Z512B_HUMAN zinc finger protein 512B 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1) 33 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ACCCATCTTCGGTGGGTCATG 0.607000 18 101 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100280097 100280097 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:100280097T>A ENST00000275732.5 - 21 3818 c.2609A>T c.(2608-2610)tAc>tTc p.Y870F NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 870 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TAGGTGGCTGTATGAGTCACT 0.627000 9 64 0 0 1 0 0 FAAH 2166 broad.mit.edu 37 1 46871941 46871941 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:46871941C>T ENST00000243167.8 + 7 936 c.852C>T c.(850-852)gcC>gcT p.A284A FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 284 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GCCCCATGGCCCGGGACGTGG 0.652000 OREG0013458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 120 0 0 1 0 0 ARMS2 387715 broad.mit.edu 37 10 124214313 124214313 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:124214313C>G ENST00000528446.1 + 1 145 c.70C>G c.(70-72)Ctg>Gtg p.L24V NM_001099667.1 NP_001093137.1 P0C7Q2 ARMS2_HUMAN age-related maculopathy susceptibility 2 24 retina homeostasis mitochondrion|photoreceptor inner segment ovary(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GATGGCAAGTCTGTCCTCCTC 0.562000 17 95 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34214259 34214259 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:34214259G>T ENST00000317619.3 - 18 1912 c.1518C>A c.(1516-1518)ccC>ccA p.P506P CPNE1_ENST00000397445.1_Silent_p.P506P|CPNE1_ENST00000397442.1_Silent_p.P450P|CPNE1_ENST00000397446.1_Silent_p.P506P|CPNE1_ENST00000397443.1_Silent_p.P506P|CPNE1_ENST00000352393.4_Silent_p.P506P|CPNE1_ENST00000317677.5_Silent_p.P511P Q99829 CPNE1_HUMAN copine I 506 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCAGTTGTGTGGGCACTTCTG 0.612000 24 174 1.22574e-08 1.55945e-08 1 1 0 HERC2P4 100289574 broad.mit.edu 37 16 32163809 32163809 + RNA SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:32163809G>T ENST00000564145.1 - 0 25 GGGTGATGGAGCGGAGCTGGG 0.527000 18 90 3.08376e-08 3.88326e-08 1 1 0 ZNF738 148203 broad.mit.edu 37 19 21544571 21544571 + Missense_Mutation SNP G G A rs1142653 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:21544571G>A ENST00000311015.3 + 2 218 c.7G>A c.(7-9)Gac>Aac p.D3N ZNF738_ENST00000597810.1_Missense_Mutation_p.D3N|ZNF738_ENST00000594245.1_Missense_Mutation_p.D3N|ZNF738_ENST00000380870.4_Missense_Mutation_p.D3N p.D3N(1) kidney(1)|lung(1) 2 CCCATAGGACGACCTGAGGTA 0.453000 4 33 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132306599 132306599 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:132306599A>T ENST00000331898.7 - 5 1317 c.739T>A c.(739-741)Tct>Act p.S247T OPCML_ENST00000524381.1_Missense_Mutation_p.S240T|OPCML_ENST00000541867.1_Missense_Mutation_p.S247T|OPCML_ENST00000374778.4_Missense_Mutation_p.S206T|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 247 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) GGGACTGCAGAGGCTTCACAG 0.493000 7 62 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110845181 110845181 + Splice_Site SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:110845181A>G ENST00000485303.1 + 5 1343 c.1069_splice c.e5+1 p.S356_splice PVRL3_ENST00000493615.1_Splice_Site_p.S333_splice|PVRL3_ENST00000319792.3_Splice_Site_p.S356_splice NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 356 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TCTACATTTCAGGTAAGTTAC 0.294000 11 29 0 0 1 0 0 MCOLN3 55283 broad.mit.edu 37 1 85499836 85499836 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:85499836T>A ENST00000370587.1 - 5 871 c.495A>T c.(493-495)cgA>cgT p.R165R WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370589.2_Silent_p.R165R|MCOLN3_ENST00000341115.4_Silent_p.R109R Q8TDD5 MCLN3_HUMAN mucolipin 3 165 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) AGATGTTTCCTCGCTTGTAGA 0.403000 10 170 0 0 1 0 0 CKM 1158 broad.mit.edu 37 19 45811715 45811715 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:45811715C>G ENST00000221476.3 - 6 903 c.729G>C c.(727-729)ggG>ggC p.G243G NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 243 Phosphagen kinase C-terminal. G -> A (in dbSNP:rs17875625). creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) TCATGTTGCCCCCCTTCTCCA 0.577000 28 56 0 0 1 0 0 VPS36 51028 broad.mit.edu 37 13 52991230 52991230 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:52991230G>C ENST00000378060.4 - 12 979 c.952C>G c.(952-954)Cac>Gac p.H318D NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 318 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) TCTTCCTTGTGAGACTGAAGC 0.483000 4 42 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18205211 18205211 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:18205211C>A ENST00000321105.5 - 8 1117 c.903G>T c.(901-903)caG>caT p.Q301H TOP3A_ENST00000542570.1_Missense_Mutation_p.Q206H NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 301 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CCACACACAACTGATAGAGAA 0.453000 6 15 3.59834e-05 4.04556e-05 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801992 185801992 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:185801992G>A ENST00000302277.6 + 4 2463 c.1869G>A c.(1867-1869)gaG>gaA p.E623E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 623 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGGAAGCAGAGAATAGTTACA 0.338000 19 83 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244579375 244579375 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:244579375G>A ENST00000366535.3 - 11 1392 c.1076C>T c.(1075-1077)gCa>gTa p.A359V NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 359 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CTTGGTAAGTGCCAACCTAAT 0.343000 4 24 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94631523 94631523 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:94631523C>T ENST00000258526.4 + 10 2313 c.2064C>T c.(2062-2064)acC>acT p.T688T NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 688 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAAACTTTACCCGGGCATCGA 0.413000 11 35 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 970232 970232 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:970232C>A ENST00000537687.1 + 7 2317 c.1674C>A c.(1672-1674)atC>atA p.I558I WNK1_ENST00000530271.2_Silent_p.I558I|WNK1_ENST00000315939.6_Silent_p.I558I|WNK1_ENST00000535572.1_Silent_p.I558I|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Silent_p.I151I NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 558 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTAAAGCTATCAAAGACAGAG 0.408000 69 175 3.83939e-23 5.74452e-23 1 1 0 SDR42E1 93517 broad.mit.edu 37 16 82033399 82033399 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:82033399T>A ENST00000328945.5 - 3 626 c.499A>T c.(499-501)Aat>Tat p.N167Y SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 167 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GGTGTAGCATTCGCCTCCAGC 0.552000 15 107 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42772081 42772081 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:42772081C>A ENST00000310232.6 - 13 1679 c.1595_splice c.e13-1 p.R532_splice NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 532 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 AGTCCGAGAACCTGGGACCAG 0.597000 6 38 0.217242 0.218127 1 1 0 TSPAN32 10077 broad.mit.edu 37 11 2337897 2337897 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:2337897G>A ENST00000182290.4 + 8 856 c.719_splice c.e8+1 p.R240_splice TSPAN32_ENST00000451520.2_Splice_Site_p.R229_splice|TSPAN32_ENST00000381121.3_Splice_Site_p.R240_splice NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 240 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CTGACCCCACGGTAGGGCCCC 0.657000 7 41 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71134977 71134977 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:71134977T>A ENST00000333538.5 + 8 1921 c.1287T>A c.(1285-1287)ggT>ggA p.G429G WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 429 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TTGACATCGGTGATGTCTCCG 0.453000 13 86 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56139660 56139660 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:56139660G>A ENST00000416613.1 + 38 3689 c.3617G>A c.(3616-3618)cGa>cAa p.R1206Q KTN1_ENST00000395314.3_Missense_Mutation_p.R1206Q|KTN1_ENST00000555573.1_Missense_Mutation_p.R211Q|KTN1_ENST00000438792.2_Missense_Mutation_p.R1177Q|KTN1_ENST00000554507.1_Missense_Mutation_p.R472Q|KTN1_ENST00000395309.3_Missense_Mutation_p.R1206Q|KTN1_ENST00000395311.1_Missense_Mutation_p.R1183Q|KTN1_ENST00000395308.1_Missense_Mutation_p.R1183Q|KTN1_ENST00000413890.2_Missense_Mutation_p.R1183Q Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 1206 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 AGAAGAGAACGAGAACATTTG 0.353000 T RET papillary thryoid 9 53 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1489874 1489874 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:1489874C>T ENST00000283415.3 - 4 725 c.593G>A c.(592-594)gGa>gAa p.G198E NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 198 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TGGCCACTTTCCGTTGGACTG 0.517000 57 173 0 0 1 0 0 STIM1 6786 broad.mit.edu 37 11 4104591 4104591 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:4104591G>T ENST00000300737.4 + 10 1906 c.1337G>T c.(1336-1338)gGc>gTc p.G446V STIM1_ENST00000533977.1_Missense_Mutation_p.G273V|STIM1_ENST00000527651.1_Missense_Mutation_p.G446V NM_003156.3 NP_003147.2 Q13586 STIM1_HUMAN stromal interaction molecule 1 446 activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) AACAACCCTGGCATCCACTCA 0.587000 16 57 1.62849e-17 2.35784e-17 1 1 0 GLYATL1 92292 broad.mit.edu 37 11 58722369 58722369 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:58722369G>T ENST00000300079.5 + 5 456 c.406_splice c.e5+1 p.G136_splice GLYATL1_ENST00000317391.4_Splice_Site_p.G105_splice|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 105 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCAAATCCAAGGTAACGAGTC 0.388000 10 32 4.68919e-08 5.86e-08 1 1 0 DAPP1 27071 broad.mit.edu 37 4 100756869 100756869 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:100756869A>T ENST00000296414.7 + 2 272 c.191A>T c.(190-192)aAt>aTt p.N64I DAPP1_ENST00000512369.1_Missense_Mutation_p.N64I Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 64 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) AGGGACAGCAATGAGACCACC 0.527000 16 72 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 985806 985806 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:985806G>T ENST00000379370.2 + 29 5026 c.e29-1 NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CATGACCCCAGGGAGAAGATG 0.687000 5 44 1.23904e-05 1.41892e-05 1 1 0 FOLH1 2346 broad.mit.edu 37 11 49204729 49204729 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:49204729C>A ENST00000340334.7 - 8 1215 c.847G>T c.(847-849)Gga>Tga p.G283* FOLH1_ENST00000356696.3_Nonsense_Mutation_p.G298*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.G283*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.G298*|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 298 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCATAGTATCCAATTGGATGA 0.358000 9 45 2.17888e-05 2.47794e-05 1 1 0 TET2 54790 broad.mit.edu 37 4 106155994 106155994 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:106155994G>A ENST00000540549.1 + 3 1755 c.895G>A c.(895-897)Gat>Aat p.D299N TET2_ENST00000545826.1_Missense_Mutation_p.D299N|TET2_ENST00000305737.2_Missense_Mutation_p.D299N|TET2_ENST00000380013.4_Missense_Mutation_p.D299N|TET2_ENST00000394764.1_Missense_Mutation_p.D299N|TET2_ENST00000413648.2_Missense_Mutation_p.D299N|TET2_ENST00000513237.1_Missense_Mutation_p.D320N Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 299 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CTGTGATGCTGATGATGCTGA 0.458000 """Mis N, F""" MDS 4 44 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44771144 44771144 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:44771144G>A ENST00000592581.1 + 4 374 c.268G>A c.(268-270)Ggg>Agg p.G90R ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000391958.2_Intron|ZNF233_ENST00000334152.1_Intron NM_001207005.1 NP_001193934.1 A6NK53 ZN233_HUMAN zinc finger protein 233 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GAGTCTTTGCGGGGTACAGCC 0.532000 13 36 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42293286 42293286 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:42293286G>C ENST00000302904.4 - 4 798 c.306C>G c.(304-306)ggC>ggG p.G102G UBTF_ENST00000393606.3_Silent_p.G102G|UBTF_ENST00000526094.1_Silent_p.G102G|UBTF_ENST00000436088.1_Silent_p.G102G|UBTF_ENST00000343638.5_Silent_p.G102G|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.G102G|UBTF_ENST00000527034.1_Silent_p.G102G|UBTF_ENST00000529383.1_Silent_p.G102G P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 102 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) TGAGTTTTTTGCCTTTGTAAG 0.478000 23 93 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116422079 116422079 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:116422079A>T ENST00000281928.3 - 20 4643 c.4437T>A c.(4435-4437)ctT>ctA p.L1479L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1479 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACTCACTCACAAGCTCATCTG 0.507000 6 37 0 0 1 0 0 LCE2B 26239 broad.mit.edu 37 1 152659357 152659357 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:152659357C>T ENST00000368780.3 + 2 92 c.38C>T c.(37-39)cCt>cTt p.P13L LCE2B_ENST00000417924.2_Missense_Mutation_p.P13L NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 13 Cys-rich.|Pro-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGCCAGCCCCCTCCCAAGTGT 0.498000 27 215 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160906946 160906946 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:160906946C>T ENST00000335388.5 - 0 750 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GTATGTGCCTCGATAACTCTG 0.453000 44 221 0 0 1 0 0 TFAM 7019 broad.mit.edu 37 10 60154788 60154788 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:60154788G>C ENST00000487519.1 + 7 1221 c.695G>C c.(694-696)cGt>cCt p.R232P TFAM_ENST00000373895.3_Missense_Mutation_p.R200P|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 232 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 GATCTTCTACGTCGCACAATA 0.373000 3 26 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25967024 25967024 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:25967024T>C ENST00000435504.4 - 13 2475 c.2182A>G c.(2182-2184)Aca>Gca p.T728A ASXL2_ENST00000404843.1_Missense_Mutation_p.T468A|ASXL2_ENST00000272341.4_Missense_Mutation_p.T468A|ASXL2_ENST00000336112.4_Missense_Mutation_p.T700A Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 728 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCAGTGTGGGGCCCTTT 0.597000 29 163 0 0 1 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173853436 173853436 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:173853436C>A ENST00000264111.6 + 14 1427 c.1240C>A c.(1240-1242)Ctg>Atg p.L414M RAPGEF4_ENST00000397081.3_Missense_Mutation_p.L415M|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.L271M|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.L262M|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.L415M|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.L195M|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.L262M|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.L244M|RAPGEF4_ENST00000473043.1_3'UTR Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 415 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GGTCTGCACCCTGCATGAAGG 0.507000 43 137 1.7489e-18 2.55849e-18 1 1 0 TRABD2A 129293 broad.mit.edu 37 2 85059220 85059220 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:85059220G>T ENST00000335459.5 - 4 1099 c.894C>A c.(892-894)ggC>ggA p.G298G TRABD2A_ENST00000409520.2_Silent_p.G347G|TRABD2A_ENST00000479944.1_5'UTR NM_001080824.1 NP_001074293.1 TraB domain containing 2A CTACCTCATAGCCTTCACGCC 0.547000 15 64 1.5739e-10 2.07191e-10 1 1 0 CRTAC1 55118 broad.mit.edu 37 10 99667822 99667822 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:99667822G>A ENST00000370597.3 - 6 1153 c.798C>T c.(796-798)ttC>ttT p.F266F CRTAC1_ENST00000370591.2_Silent_p.F266F|CRTAC1_ENST00000298819.4_Silent_p.F266F NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 266 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TGTGGAAAAGGAAGTTAGGCC 0.617000 6 48 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25783878 25783878 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:25783878A>C ENST00000319524.6 + 1 209 c.209A>C c.(208-210)cAg>cCg p.Q70P KSR1_ENST00000509603.2_Missense_Mutation_p.Q70P Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 68 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GACCTCACCCAGCAGGAGATA 0.687000 8 30 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129770468 129770468 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:129770468G>C ENST00000335420.5 + 10 1345 c.1211G>C c.(1210-1212)aGc>aCc p.S404T NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 404 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 GTGGTACCTAGCCTGCTGGAA 0.512000 49 145 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41924512 41924512 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr22:41924512C>G ENST00000396512.3 + 18 2330 c.2313C>G c.(2311-2313)aaC>aaG p.N771K POLR3H_ENST00000355209.4_3'UTR|ACO2_ENST00000216254.4_Missense_Mutation_p.N746K|POLR3H_ENST00000396504.2_3'UTR Q99798 ACON_HUMAN aconitase 2, mitochondrial 746 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 AGCACCCCAACGGGACCCAGG 0.602000 10 46 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115827452 115827452 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:115827452G>A ENST00000343348.6 - 7 1306 c.519C>T c.(517-519)aaC>aaT p.N173N CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.N173N|SEMA6A_ENST00000257414.8_Silent_p.N173N NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 173 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) ACAGTGCAACGTTGGCATGTT 0.438000 11 48 0 0 1 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832781 42832781 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:42832781G>T ENST00000314073.5 + 13 3013 c.2837G>T c.(2836-2838)aGa>aTa p.R946I GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R946I GLTSCR1-like ACCTCATCCAGATCGGATCAT 0.537000 10 67 7.48243e-07 8.91024e-07 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82415958 82415958 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:82415958C>T ENST00000370728.1 + 9 1929 c.1284C>T c.(1282-1284)ggC>ggT p.G428G LPHN2_ENST00000370725.1_Silent_p.G428G|LPHN2_ENST00000394879.1_Silent_p.G428G|LPHN2_ENST00000319517.6_Silent_p.G428G|LPHN2_ENST00000370713.1_Silent_p.G428G|LPHN2_ENST00000335786.5_Silent_p.G428G|LPHN2_ENST00000271029.4_Silent_p.G428G|LPHN2_ENST00000370730.1_Silent_p.G428G|LPHN2_ENST00000370715.1_Silent_p.G428G|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Silent_p.G428G|LPHN2_ENST00000370723.1_Silent_p.G428G|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370717.2_Silent_p.G428G|LPHN2_ENST00000359929.3_Silent_p.G428G O95490 LPHN2_HUMAN latrophilin 2 428 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CACAGAAAGGCCCCATGAGCA 0.418000 19 211 0 0 1 0 0 LEMD3 23592 broad.mit.edu 37 12 65639486 65639486 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:65639486G>T ENST00000308330.2 + 11 2451 c.2425G>T c.(2425-2427)Gca>Tca p.A809S NM_001167614.1|NM_014319.4 NP_001161086.1|NP_055134.2 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 809 Interaction with SMAD1, SMAD2, SMAD3 and SMAD5. negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 36 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) AATTCAAGAAGCAATTTTAGA 0.328000 10 69 2.27111e-07 2.75778e-07 1 1 0 EPN1 29924 broad.mit.edu 37 19 56189960 56189960 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:56189960G>A ENST00000411543.2 + 3 847 c.300G>A c.(298-300)ggG>ggA p.G100G EPN1_ENST00000270460.6_5'UTR|EPN1_ENST00000085079.7_5'UTR NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 0 ENTH. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CACGCATCGGGGCCCTGTGCC 0.627000 8 10 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2088646 2088646 + Splice_Site SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:2088646A>T ENST00000262113.4 + 33 3942 c.3800_splice c.e33-1 p.K1267_splice MYOM2_ENST00000523438.1_Splice_Site_p.K692_splice NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1267 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCTTTTCAAGAGATGCTAAGA 0.478000 7 55 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104082500 104082500 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:104082500C>A ENST00000265148.3 - 19 2046 c.1957G>T c.(1957-1959)Gag>Tag p.E653* CENPE_ENST00000380026.3_Nonsense_Mutation_p.E628* NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 653 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ACCATTTTCTCCTTCAGCTCC 0.333000 11 59 1.08611e-07 1.33197e-07 1 1 0 LIG4 3981 broad.mit.edu 37 13 108862093 108862093 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:108862093A>G ENST00000356922.4 - 2 1796 c.1524T>C c.(1522-1524)tcT>tcC p.S508S LIG4_ENST00000405925.1_Silent_p.S508S|LIG4_ENST00000442234.1_Silent_p.S508S NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 508 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TGGTGCAGCCAGACCCAACAC 0.468000 Non-homologous end-joining 28 88 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907840 12907840 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:12907840T>A ENST00000317869.6 - 2 528 c.303A>T c.(301-303)gcA>gcT p.A101A NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 ACATCTCCGCTGCTGATCGTT 0.493000 13 147 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207510124 207510124 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:207510124C>G ENST00000367064.3 + 7 1198 c.940C>G c.(940-942)Cag>Gag p.Q314E CD55_ENST00000391920.4_Missense_Mutation_p.Q314E|CD55_ENST00000314754.8_Missense_Mutation_p.Q314E|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391921.4_Missense_Mutation_p.Q250E|CD55_ENST00000367065.5_Missense_Mutation_p.Q314E|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.Q314E|CD55_ENST00000367063.2_Missense_Mutation_p.Q314E NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 314 Ser/Thr-rich. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) ACCAACTTCTCAGAAAACCAC 0.413000 11 65 0 0 1 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249243 90249243 + RNA SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:90249243A>C ENST00000468879.1 + 0 380 AAAAGCCCCTAAGCTCTTCAT 0.502000 36 232 0 0 1 0 0 IGKV1D-12 28903 broad.mit.edu 37 2 90199072 90199072 + RNA SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:90199072G>A ENST00000390276.2 + 0 414 AGTTTGCAAAGTGGGGTCCCA 0.507000 26 164 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170487312 170487312 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:170487312A>G ENST00000260970.3 + 10 796 c.576A>G c.(574-576)aaA>aaG p.K192K PPIG_ENST00000409714.3_Silent_p.K177K|PPIG_ENST00000462903.1_Silent_p.K192K|PPIG_ENST00000448752.2_Silent_p.K192K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 192 Arg/Lys-rich (basic). protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AAAGGCATAAATCATCATCAT 0.338000 49 110 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507441 74507441 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:74507441G>A ENST00000354431.4 - 7 1365 c.1174C>T c.(1174-1176)Cca>Tca p.P392S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P392S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 392 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTAATGATTGGCTTTGGATGA 0.353000 16 86 0 0 1 0 0 IL5RA 3568 broad.mit.edu 37 3 3134047 3134047 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:3134047C>G ENST00000446632.2 - 9 1430 c.e9-1 IL5RA_ENST00000430514.2_Splice_Site|IL5RA_ENST00000311981.8_Splice_Site|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000383846.1_Splice_Site|IL5RA_ENST00000256452.3_Splice_Site|IL5RA_ENST00000456302.1_Splice_Site|IL5RA_ENST00000438560.1_Splice_Site NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) ATTTTTCTATCTAAGTGGGGA 0.398000 13 68 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611688 50611688 + Missense_Mutation SNP G G T rs11575290 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:50611688G>T ENST00000444124.2 - 2 296 c.96C>A c.(94-96)gaC>gaA p.D32E DDC_ENST00000380984.4_Missense_Mutation_p.D32E|DDC_ENST00000431062.1_Missense_Mutation_p.D32E|DDC_ENST00000357936.5_Missense_Mutation_p.D32E|DDC_ENST00000426377.1_Missense_Mutation_p.D32E NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 32 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CGGGCTCCACGTCAGGGTAGA 0.562000 60 215 1.03172e-35 1.58702e-35 1 1 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069608 57069608 + Missense_Mutation SNP C C A rs145115950 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:57069608C>A ENST00000532437.1 - 7 5085 c.4774G>T c.(4774-4776)Ggt>Tgt p.G1592C TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1592C Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1592 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CCCAAGGTACCCCCAGGCCGA 0.602000 13 97 2.31682e-05 2.62573e-05 1 1 0 TMPRSS7 344805 broad.mit.edu 37 3 111785310 111785310 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:111785310G>C ENST00000452346.2 + 13 1630 c.1627G>C c.(1627-1629)Gac>Cac p.D543H TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D417H Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 543 LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGGCTTCAGGGACTGTGAGAA 0.483000 13 73 0 0 1 0 0 TTC9 23508 broad.mit.edu 37 14 71137808 71137808 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:71137808G>A ENST00000256367.2 + 3 948 c.605G>A c.(604-606)cGg>cAg p.R202Q NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 202 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) AACGTGATTCGGTATATCCAG 0.502000 7 39 0 0 1 0 0 SLC35F5 80255 broad.mit.edu 37 2 114512772 114512772 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:114512772C>G ENST00000245680.2 - 3 656 c.243G>C c.(241-243)gtG>gtC p.V81V SLC35F5_ENST00000409342.1_Silent_p.V75V NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 81 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CAACCCATATCACATCAACAA 0.423000 11 51 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97888297 97888297 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:97888297T>G ENST00000356526.2 + 1 754 c.754T>G c.(754-756)Tat>Gat p.Y252D NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CTGTTTATACTATGGCCCCCT 0.438000 11 75 0 0 1 0 0 RABGGTB 5876 broad.mit.edu 37 1 76255022 76255022 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:76255022A>T ENST00000319942.3 + 3 361 c.290A>T c.(289-291)tAc>tTc p.Y97F RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.Y97F NM_004582.2 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase, beta subunit 97 protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1) 19 CATCTTTTATACACTCTTAGT 0.363000 9 73 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88415982 88415982 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:88415982C>A ENST00000372071.2 + 2 442 c.215C>A c.(214-216)aCc>aAc p.T72N OPN4_ENST00000241891.5_Missense_Mutation_p.T72N NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 72 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 GCCCACTATACCCTGGGCACA 0.612000 20 67 1.01871e-10 1.34826e-10 1 1 0 A2M 2 broad.mit.edu 37 12 9248200 9248200 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:9248200T>A ENST00000318602.7 - 16 2255 c.1948A>T c.(1948-1950)Att>Ttt p.I650F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 650 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) ATTCCATTAATATAGACATTA 0.403000 20 52 0 0 1 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179360225 179360225 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179360225C>G ENST00000234453.4 + 5 855 c.453C>G c.(451-453)aaC>aaG p.N151K NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 151 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) TTTTTCAGAACATGAATGAAG 0.368000 11 66 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108751647 108751647 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:108751647C>A ENST00000232603.5 - 16 1567 c.1485G>T c.(1483-1485)ttG>ttT p.L495F MORC1_ENST00000483760.1_Missense_Mutation_p.L495F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 495 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TAGAGGAAGGCAAGACTCTCC 0.318000 9 40 1.12685e-05 1.29496e-05 1 1 0 FAM150A 389658 broad.mit.edu 37 8 53454951 53454951 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:53454951C>G ENST00000358543.4 - 2 495 c.e2+1 FAM150A_ENST00000523939.1_Splice_Site NM_207413.3 NP_997296.1 Q6UXT8 F150A_HUMAN family with sequence similarity 150, member A extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) TTTGTACTTACCTGTGAAATG 0.308000 5 14 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46867421 46867421 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:46867421C>T ENST00000393382.3 - 10 1413 c.1272G>A c.(1270-1272)gaG>gaA p.E424E TTLL6_ENST00000433608.2_Silent_p.E117E NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 376 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CATCTTTCACCTCTTTATCCA 0.512000 8 102 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71142265 71142265 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:71142265T>C ENST00000333538.5 + 9 2108 c.1474T>C c.(1474-1476)Tat>Cat p.Y492H WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 492 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGCAATATTGTATCCGTGCCA 0.542000 21 238 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630635 43630635 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:43630635G>T ENST00000332857.6 - 1 95 c.67C>A c.(67-69)Cca>Aca p.P23T NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AACACCCATGGTGTGGAGCTG 0.473000 41 39 6.2361e-21 9.27421e-21 1 1 0 ACKR2 1238 broad.mit.edu 37 3 42906034 42906034 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:42906034G>T ENST00000422265.1 + 3 215 c.40G>T c.(40-42)Gat>Tat p.D14Y ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.D14Y|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.D14Y|KRBOX1_ENST00000426937.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 CGCCACTGAGGATGCCGATTC 0.542000 14 57 3.27435e-08 4.10752e-08 1 1 0 SYNGR2 9144 broad.mit.edu 37 17 76167811 76167811 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:76167811C>T ENST00000588282.1 + 3 564 c.558C>T c.(556-558)tcC>tcT p.S186S SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000590201.1_Intron|SYNGR2_ENST00000225777.3_Intron|SYNGR2_ENST00000592456.1_3'UTR NM_004710.3 NP_004701.1 O43760 SNG2_HUMAN synaptogyrin 2 0 integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) TGCTGTGCTCCCCCTGCAGGG 0.632000 11 77 0 0 1 0 0 GABPB1 2553 broad.mit.edu 37 15 50596212 50596212 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:50596212T>C ENST00000380877.3 - 3 650 c.227A>G c.(226-228)cAt>cGt p.H76R GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000560825.1_Missense_Mutation_p.H76R|GABPB1_ENST00000429662.2_Missense_Mutation_p.H76R|GABPB1_ENST00000359031.4_Missense_Mutation_p.H76R|GABPB1_ENST00000220429.8_Missense_Mutation_p.H76R|GABPB1_ENST00000396464.3_Missense_Mutation_p.H76R NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 76 H -> L (in Ref. 7; AA sequence). positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 AGCTGCCATATGTAATGGTGT 0.438000 20 81 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102570770 102570770 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:102570770G>T ENST00000251808.3 + 4 746 c.408G>T c.(406-408)cgG>cgT p.R136R GRHL2_ENST00000395927.1_Silent_p.R120R NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 136 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATTCCAAGCGGGAACAGTACA 0.502000 14 138 1.99824e-07 2.43543e-07 1 1 0 CDK17 5128 broad.mit.edu 37 12 96691437 96691437 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:96691437C>G ENST00000261211.3 - 8 1381 c.778G>C c.(778-780)Gat>Cat p.D260H CDK17_ENST00000542666.1_Missense_Mutation_p.D207H|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.D260H NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 260 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AAGGATTTATCTGTGTGAACA 0.289000 18 74 0 0 1 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702813 40702813 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:40702813C>A ENST00000356699.5 + 4 499 c.470C>A c.(469-471)cCt>cAt p.P157H SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 TCCCCGGATCCTCAAGCCAAG 0.592000 76 349 5.72486e-32 8.77872e-32 1 1 0 APOBR 55911 broad.mit.edu 37 16 28509653 28509653 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:28509653A>G ENST00000564831.1 + 3 3240 c.3207A>G c.(3205-3207)agA>agG p.R1069R APOBR_ENST00000431282.1_Silent_p.R1060R|APOBR_ENST00000328423.5_Intron NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1060 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CAGCCAGGAGAAGGCCCCTGG 0.667000 4 8 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 87029210 87029210 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:87029210A>G ENST00000340353.7 + 12 1245 c.1043A>G c.(1042-1044)aAg>aGg p.K348R TMEM135_ENST00000535167.1_Missense_Mutation_p.K231R|TMEM135_ENST00000305494.5_Missense_Mutation_p.K370R|TMEM135_ENST00000532959.1_Missense_Mutation_p.K241R NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 370 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAAGCAGGGAAGGTTCCCTAT 0.343000 20 58 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59479158 59479158 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:59479158C>G ENST00000240328.3 + 2 790 c.509C>G c.(508-510)tCg>tGg p.S170W RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 170 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 TTCCACAACTCGCGCTGGATG 0.592000 16 80 0 0 1 0 0 LINC00639 283547 broad.mit.edu 37 14 39304855 39304855 + RNA SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:39304855G>A ENST00000553932.1 - 0 3707 CCCTAAGAGTGCAGTTAATGG 0.473000 5 51 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46867420 46867420 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:46867420C>A ENST00000393382.3 - 10 1414 c.1273G>T c.(1273-1275)Gtg>Ttg p.V425L TTLL6_ENST00000433608.2_Missense_Mutation_p.V118L NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 377 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCATCTTTCACCTCTTTATCC 0.512000 9 103 0.000442599 0.00048115 1 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21467596 21467596 + Silent SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:21467596T>G ENST00000307378.6 - 5 942 c.222A>C c.(220-222)atA>atC p.I74I SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Silent_p.I72I|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000452078.1_Silent_p.I74I NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 74 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 AACTCACAAATATAATCAACA 0.313000 12 41 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3795338 3795338 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:3795338T>C ENST00000262367.5 - 22 4663 c.3854A>G c.(3853-3855)gAg>gGg p.E1285G CREBBP_ENST00000382070.3_Missense_Mutation_p.E1247G NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1285 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCGGCCACACTCCTTGCAATC 0.517000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 20 36 0 0 1 0 0 YWHAG 7532 broad.mit.edu 37 7 75988083 75988083 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:75988083C>A ENST00000307630.3 - 1 265 c.43G>T c.(43-45)Gag>Tag p.E15* NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 15 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 TCCGCCTGCTCGGCCAGCCGG 0.697000 5 46 0.00116845 0.00124685 1 1 0 LIG4 3981 broad.mit.edu 37 13 108862288 108862288 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:108862288T>C ENST00000356922.4 - 2 1601 c.1329A>G c.(1327-1329)agA>agG p.R443R LIG4_ENST00000405925.1_Silent_p.R443R|LIG4_ENST00000442234.1_Silent_p.R443R NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 443 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ACCCTTCACCTCTTTTGTCTG 0.368000 Non-homologous end-joining 38 154 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208632263 208632263 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:208632263G>A ENST00000295417.3 - 2 1754 c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 401 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) ACGAAGCCGCGCAGCGAGTTC 0.667000 16 54 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76409419 76409419 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:76409419G>A ENST00000357063.3 + 19 4693 c.3433G>A c.(3433-3435)Gaa>Aaa p.E1145K LMO7_ENST00000321797.8_Missense_Mutation_p.E860K|LMO7_ENST00000526202.1_Missense_Mutation_p.E737K|LMO7_ENST00000341547.4_Missense_Mutation_p.E811K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1145K|LMO7_ENST00000465261.2_Missense_Mutation_p.E860K Q8WWI1 LMO7_HUMAN LIM domain 7 1145 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTACAACTCAGAAAAATCTTC 0.383000 6 84 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41561481 41561481 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:41561481G>A ENST00000262415.3 + 1 148 c.76G>A c.(76-78)Gag>Aag p.E26K DHX8_ENST00000540306.1_Missense_Mutation_p.E26K NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 26 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TGCCAAACTCGAGTACCTGTC 0.582000 OREG0024434 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 124 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113141644 113141644 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:113141644G>T ENST00000401783.2 - 44 10727 c.10391C>A c.(10390-10392)tCa>tAa p.S3464* SVEP1_ENST00000374469.1_Nonsense_Mutation_p.S3441*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.S1390* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3464 Sushi 34. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATAGGAGGTGATGTCCATGT 0.363000 7 31 0.00198382 0.00210327 1 1 0 UBE2Z 65264 broad.mit.edu 37 17 46998559 46998559 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:46998559G>T ENST00000360943.5 + 5 863 c.728G>T c.(727-729)tGt>tTt p.C243F NM_023079.4 NP_075567.2 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 243 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity TATAATGAATGTATCCGGCAC 0.453000 4 23 0.00909568 0.00946027 1 1 0 UGT8 7368 broad.mit.edu 37 4 115544098 115544098 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:115544098C>A ENST00000310836.6 + 2 584 c.62C>A c.(61-63)gCc>gAc p.A21D UGT8_ENST00000394511.3_Missense_Mutation_p.A21D NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 21 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) GCGAAGGCTGCCAAAATCATC 0.423000 6 38 0.00116845 0.00124685 1 1 0 FAM41C 284593 broad.mit.edu 37 1 809876 809876 + RNA SNP A A G rs57181708 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:809876A>G ENST00000446136.1 - 0 817 NR_027055.1 AGTTTTGCCTAATATTTTCAC 0.458000 3 21 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118485974 118485974 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:118485974G>T ENST00000311085.8 + 18 4532 c.4452G>T c.(4450-4452)gaG>gaT p.E1484D DMXL1_ENST00000539542.1_Missense_Mutation_p.E1484D NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1484 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TTGGACCTGAGCATGCTCAGG 0.418000 28 111 1.88708e-17 2.72825e-17 1 1 0 FAT4 79633 broad.mit.edu 37 4 126402712 126402712 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:126402712A>T ENST00000394329.3 + 15 12648 c.12635A>T c.(12634-12636)aAa>aTa p.K4212I FAT4_ENST00000335110.5_Missense_Mutation_p.K2453I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4212 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTAGAAGGCAAAGGGCGCTTG 0.433000 13 64 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15383769 15383769 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:15383769G>C ENST00000263377.2 - 2 363 c.142C>G c.(142-144)Cca>Gca p.P48A BRD4_ENST00000360016.5_Missense_Mutation_p.P48A|BRD4_ENST00000371835.4_Missense_Mutation_p.P48A NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 48 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GAGGTCTCTGGGGGCGGGGGG 0.567000 T C15orf55 lethal midline carcinoma of young people 58 93 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60885680 60885680 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:60885680A>C ENST00000347785.3 + 3 294 c.128A>C c.(127-129)aAg>aCg p.K43T NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 43 SRCR 1. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TCCAACTCGAAGTGCCAGGGC 0.637000 26 122 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190571803 190571803 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:190571803C>T ENST00000520309.1 + 9 2138 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y ANKAR_ENST00000313581.4_Missense_Mutation_p.H684Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.H613Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.H448Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.H684Y NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 684 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GTTAACCTTTCATACAGAGGT 0.308000 5 44 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111383 55111383 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:55111383C>A ENST00000314721.2 + 1 757 c.707C>A c.(706-708)cCt>cAt p.P236H NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 AAAGCCCTGCCTACCTGCATC 0.398000 17 71 1.5739e-10 2.07191e-10 1 1 0 CDK14 5218 broad.mit.edu 37 7 90613533 90613533 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:90613533G>C ENST00000406263.1 + 9 1322 c.880G>C c.(880-882)Gat>Cat p.D294H CDK14_ENST00000265741.3_Missense_Mutation_p.D322H|CDK14_ENST00000380050.3_Missense_Mutation_p.D340H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H O94921 CDK14_HUMAN cyclin-dependent kinase 14 340 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 AGACATTCAGGATCAACTTGA 0.363000 12 106 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78569105 78569105 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:78569105G>T ENST00000397909.2 + 25 5174 c.5001G>T c.(4999-5001)caG>caT p.Q1667H NAV3_ENST00000266692.7_Missense_Mutation_p.Q1490H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1667H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1667H Q8IVL0 NAV3_HUMAN neuron navigator 3 1667 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 TCAGAAGACAGCATTCCTCTG 0.418000 HNSCC(70;0.22) 8 30 5.18039e-06 6.03767e-06 1 1 0 ZDBF2 57683 broad.mit.edu 37 2 207176100 207176100 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:207176100C>T ENST00000374423.3 + 5 7234 c.6848C>T c.(6847-6849)tCa>tTa p.S2283L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2283 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAGAGCTGTCAAGCGCTATG 0.498000 3 12 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159858261 159858261 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:159858261C>A ENST00000426543.2 - 4 498 c.43G>T c.(43-45)Gag>Tag p.E15* CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Nonsense_Mutation_p.E100* Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 100 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) ATTAGGGACTCCCCGGAGGGA 0.532000 11 79 1.49906e-05 1.70875e-05 1 1 0 SLC44A4 80736 broad.mit.edu 37 6 31839280 31839280 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:31839280G>A ENST00000544672.1 - 8 656 c.360C>T c.(358-360)acC>acT p.T120T SLC44A4_ENST00000375562.4_Silent_p.T154T|SLC44A4_ENST00000229729.6_Silent_p.T196T NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 196 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) TGGTGTCATTGGTGATCCCTG 0.647000 12 81 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 107822961 107822961 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:107822961C>A ENST00000375915.2 - 3 1399 c.1261G>T c.(1261-1263)Gtt>Ttt p.V421F NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 421 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AGTACAAGAACACACAGCTTG 0.517000 7 37 8.12818e-05 8.98474e-05 1 1 0 COX11 1353 broad.mit.edu 37 17 53045693 53045693 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:53045693G>A ENST00000299335.3 - 1 453 c.315C>T c.(313-315)ggC>ggT p.G105G COX11_ENST00000571584.1_Silent_p.G105G NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 105 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 CCCCCAGCATGCCCACGGCGA 0.697000 11 78 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214170934 214170934 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:214170934G>C ENST00000366958.4 + 2 1664 c.1056G>C c.(1054-1056)ttG>ttC p.L352F PROX1_ENST00000498508.2_Missense_Mutation_p.L352F|PROX1_ENST00000261454.4_Missense_Mutation_p.L352F|PROX1_ENST00000435016.1_Missense_Mutation_p.L352F NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 352 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTGAGACCTTGAAACAGGAAC 0.512000 17 94 0 0 1 0 0 GDPD3 79153 broad.mit.edu 37 16 30119753 30119753 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:30119753C>G ENST00000406256.3 - 8 1085 c.707_splice c.e8-1 p.R236_splice RP11-455F5.4_ENST00000566190.1_RNA NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 236 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 GGAAATAGGTCCTGCAGAGAG 0.587000 50 82 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839713 128839713 + Missense_Mutation SNP C C G rs147135511 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:128839713C>G ENST00000310343.9 - 22 5352 c.5353G>C c.(5353-5355)Ggt>Cgt p.G1785R ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1436R|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1436R|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1785 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TAGATCCCACCCAAGTCGTCC 0.552000 32 113 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43271893 43271893 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:43271893C>G ENST00000372585.5 + 10 1598 c.1503C>G c.(1501-1503)atC>atG p.I501M SLC22A7_ENST00000372574.3_Missense_Mutation_p.I499M|SLC22A7_ENST00000372589.3_Missense_Mutation_p.I499M NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 501 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.I501I(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ATGGGGGGATCGCCCTGCTGG 0.652000 30 104 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163235181 163235181 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:163235181G>A ENST00000337019.3 + 3 383 c.159G>A c.(157-159)gtG>gtA p.V53V PACRG_ENST00000366889.2_Silent_p.V53V|PACRG_ENST00000366888.2_Silent_p.V53V|PACRG_ENST00000542669.1_3'UTR NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 53 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CAATTAAGGTGAGAGGCCCTC 0.368000 8 88 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025884 31025884 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:31025884G>T ENST00000355537.3 + 3 2448 c.2301G>T c.(2299-2301)aaG>aaT p.K767N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 767 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATCACCTTAAGGTGCACCTGA 0.602000 58 105 2.17126e-26 3.28353e-26 1 1 0 SSBP2 23635 broad.mit.edu 37 5 80809459 80809459 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:80809459T>A ENST00000320672.4 - 5 570 c.360A>T c.(358-360)ccA>ccT p.P120P SSBP2_ENST00000505980.1_Silent_p.P120P|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 120 Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GAAAGAACCCTGGTGGTACAG 0.443000 17 74 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734958 176734958 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:176734958C>A ENST00000367662.3 + 15 5472 c.4308C>A c.(4306-4308)taC>taA p.Y1436* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1436 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTGGGCAGTACATCAGGCCCA 0.517000 47 69 4.44401e-20 6.57927e-20 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198949102 198949102 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:198949102C>G ENST00000428675.1 + 2 1259 c.861C>G c.(859-861)atC>atG p.I287M PLCL1_ENST00000437704.2_Missense_Mutation_p.I189M NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 287 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TTAAAGAAATCCAGAAGAGCA 0.408000 21 118 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184290795 184290795 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:184290795G>A ENST00000330394.2 + 3 1139 c.687G>A c.(685-687)gcG>gcA p.A229A EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 229 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TCACTGGGGCGGAGCCCACCT 0.637000 16 87 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154626144 154626144 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:154626144G>C ENST00000260010.6 + 1 3493 c.2085G>C c.(2083-2085)aaG>aaC p.K695N NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 695 TIR. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CCATTGAAAAGAGCCACAAAA 0.423000 20 129 0 0 1 0 0 NFKBID 84807 broad.mit.edu 37 19 36380797 36380797 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:36380797C>G ENST00000396901.1 - 11 1456 c.883G>C c.(883-885)Gag>Cag p.E295Q NFKBID_ENST00000340950.2_Missense_Mutation_p.E132Q|NFKBID_ENST00000606253.1_Missense_Mutation_p.E295Q|NFKBID_ENST00000352614.2_Missense_Mutation_p.E447Q NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 295 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 CTTACCCCCTCAGGGCCCGGC 0.672000 37 85 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704141 52704141 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:52704141G>A ENST00000287727.3 + 4 1224 c.1052G>A c.(1051-1053)aGg>aAg p.R351K ZFYVE9_ENST00000361625.1_Missense_Mutation_p.R351K|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R351K|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R351K NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 351 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GGGTCTGGAAGGAATAATGAC 0.443000 26 73 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11022739 11022739 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:11022739G>T ENST00000403050.3 + 3 1305 c.853G>T c.(853-855)Gaa>Taa p.E285* PHF14_ENST00000445996.2_Intron NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 285 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TGATGATGAGGAACTGACCAA 0.423000 10 40 0.00829132 0.00866021 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163393469 163393469 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:163393469C>A ENST00000332142.5 - 3 528 c.429G>T c.(427-429)agG>agT p.R143S KCNH7_ENST00000328032.4_Missense_Mutation_p.R143S NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 143 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTGGGTTTACCCTCTCTGGGG 0.383000 14 115 0.000308642 0.000336266 1 1 0 PTPN4 5775 broad.mit.edu 37 2 120725513 120725513 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:120725513A>G ENST00000263708.2 + 26 3430 c.2659A>G c.(2659-2661)Atg>Gtg p.M887V PTPN4_ENST00000544261.1_Missense_Mutation_p.M520V NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 887 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TGTAAGAACAATGAGAGATCA 0.378000 35 72 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130242172 130242172 + Missense_Mutation SNP G G C rs71497658 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:130242172G>C ENST00000323301.4 + 13 1562 c.958G>C c.(958-960)Gag>Cag p.E320Q LRSAM1_ENST00000373322.1_Missense_Mutation_p.E320Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E320Q|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E320Q|LRSAM1_ENST00000483302.1_3'UTR NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 320 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CCTCAACGCAGAGCGGCAGCG 0.652000 11 55 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74414807 74414807 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:74414807C>A ENST00000263665.6 - 8 1020 c.993G>T c.(991-993)gtG>gtT p.V331V NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 331 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACTGTCCTCCACGGCTATTT 0.453000 31 247 5.60225e-13 7.73644e-13 1 1 0 ELTD1 64123 broad.mit.edu 37 1 79404910 79404910 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:79404910A>T ENST00000370742.3 - 4 422 c.359T>A c.(358-360)gTc>gAc p.V120D NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 120 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AGCTATACAGACATTATCTAA 0.239000 17 24 0 0 1 0 0 AKAP5 9495 broad.mit.edu 37 14 64935338 64935338 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:64935338C>A ENST00000320636.5 + 1 1514 c.226C>A c.(226-228)Cgg>Agg p.R76R ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Silent_p.R76R P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 76 AKAP.|Essential to the intracellular anchoring function (By similarity). energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) AGAGCCCACACGGGGGGCCTG 0.537000 38 61 1.90571e-15 2.71536e-15 1 1 0 CDH3 1001 broad.mit.edu 37 16 68721553 68721553 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:68721553A>T ENST00000264012.4 + 12 2253 c.1709A>T c.(1708-1710)aAg>aTg p.K570M CDH3_ENST00000429102.2_Missense_Mutation_p.K570M|CDH3_ENST00000581171.1_Missense_Mutation_p.K515M NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 570 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) ATCACGGACAAGGACCTGTCT 0.567000 25 114 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34025254 34025254 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:34025254G>A ENST00000374372.1 - 3 958 c.455C>T c.(454-456)cCc>cTc p.P152L GDF5_ENST00000374369.3_Missense_Mutation_p.P152L P43026 GDF5_HUMAN growth differentiation factor 5 152 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) TGGGGGCCCGGGCTCCCTGGC 0.642000 28 66 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17524557 17524557 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:17524557C>G ENST00000511148.2 + 2 426 c.324C>G c.(322-324)gcC>gcG p.A108A NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 108 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 TCTTCCTGGCCTTGGCCCTGG 0.567000 13 102 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47307014 47307014 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:47307014G>T ENST00000342922.4 + 14 2781 c.2424G>T c.(2422-2424)ctG>ctT p.L808L MADD_ENST00000406482.1_Silent_p.L765L|MADD_ENST00000407859.3_Silent_p.L765L|MADD_ENST00000402192.2_Silent_p.L808L|MADD_ENST00000395336.3_Silent_p.L808L|MADD_ENST00000395344.3_Silent_p.L765L|MADD_ENST00000349238.3_Silent_p.L808L|MADD_ENST00000311027.5_Silent_p.L808L|MADD_ENST00000402799.1_Silent_p.L765L NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 808 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCAAAAGCTGCTGCGGCCCA 0.552000 32 121 1.1423e-28 1.73813e-28 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1268816 1268816 + Missense_Mutation SNP C C T rs71469871 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:1268816C>T ENST00000447027.1 + 31 10773 c.10715C>T c.(10714-10716)aCg>aTg p.T3572M RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3569M Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3569 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGGTGACCACGGGCTGTGAG 0.657000 9 53 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616984 79616984 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:79616984T>A ENST00000296739.4 + 1 1195 c.950T>A c.(949-951)tTg>tAg p.L317* NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 317 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) ACCTATTCATTGCAGTTGATG 0.443000 11 66 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661697 153661697 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:153661697G>T ENST00000368680.3 + 17 3070 c.2598G>T c.(2596-2598)acG>acT p.T866T NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 866 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GTGGGGAGACGGTGCAGGCCG 0.612000 21 196 5.26018e-13 7.27424e-13 1 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596512 24596512 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:24596512C>A ENST00000535378.1 - 4 1005 c.363G>T c.(361-363)tgG>tgT p.W121C KIAA0319_ENST00000430948.2_Missense_Mutation_p.W85C|KIAA0319_ENST00000537886.1_Missense_Mutation_p.W130C|KIAA0319_ENST00000543707.1_Missense_Mutation_p.W130C|KIAA0319_ENST00000378214.3_Missense_Mutation_p.W130C NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 130 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTGAGTCCCCCCAGATCCCCG 0.557000 29 65 3.73988e-18 5.45492e-18 1 1 0 MEF2C 4208 broad.mit.edu 37 5 88025083 88025083 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:88025083G>T ENST00000504921.2 - 8 1588 c.916C>A c.(916-918)Caa>Aaa p.Q306K MEF2C_ENST00000514028.1_Missense_Mutation_p.Q306K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q306K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q306K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q316K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q250K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q298K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q296K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q306K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q298K Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 306 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CCCATTCCTTGTCCTGGTAAA 0.378000 HNSCC(66;0.2) 5 21 0.014758 0.0152052 1 1 0 SNX31 169166 broad.mit.edu 37 8 101601151 101601151 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:101601151G>C ENST00000311812.2 - 11 1185 c.1035C>G c.(1033-1035)ctC>ctG p.L345L SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Silent_p.L246L NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 345 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) ATTGAAATCTGAGCTCTAAGT 0.418000 11 99 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169831905 169831905 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:169831905G>A ENST00000367772.4 - 10 1186 c.989C>T c.(988-990)tCa>tTa p.S330L SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.S330L|SCYL3_ENST00000367770.1_Missense_Mutation_p.S330L NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 330 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAGGGCTGGTGAGAGCAAGCA 0.463000 31 256 0 0 1 0 0 AOC2 314 broad.mit.edu 37 17 40997112 40997112 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:40997112G>T ENST00000253799.3 + 1 496 c.469G>T c.(469-471)Ggc>Tgc p.G157C AOC2_ENST00000452774.2_Missense_Mutation_p.G157C NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 157 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGAGCGTCACGGCGGGCCCCT 0.612000 8 61 0.000274275 0.000299485 1 1 0 MATR3 9782 broad.mit.edu 37 5 138655116 138655116 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:138655116G>C ENST00000394800.2 + 13 2077 c.1528G>C c.(1528-1530)Gat>Cat p.D510H MATR3_ENST00000503811.1_Missense_Mutation_p.D222H|MATR3_ENST00000502499.1_Missense_Mutation_p.D172H|MATR3_ENST00000502929.1_Missense_Mutation_p.D510H|MATR3_ENST00000394805.3_Missense_Mutation_p.D510H|MATR3_ENST00000361059.2_Missense_Mutation_p.D510H|MATR3_ENST00000510056.1_Missense_Mutation_p.D510H|MATR3_ENST00000504203.1_Missense_Mutation_p.D172H|MATR3_ENST00000509990.1_Missense_Mutation_p.D510H P43243 MATR3_HUMAN matrin 3 510 RRM 2. nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGGCTATTCTGATAGTGCTGT 0.378000 12 62 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302131 7302131 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:7302131G>T ENST00000537408.1 + 13 2661 c.2123G>T c.(2122-2124)cGc>cTc p.R708L CLSTN3_ENST00000266546.6_Missense_Mutation_p.R696L Q9BQT9 CSTN3_HUMAN calsyntenin 3 696 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACAGACACACGCATGTCGGAT 0.577000 17 44 1.99824e-07 2.43543e-07 1 1 0 GMPS 8833 broad.mit.edu 37 3 155643029 155643029 + Splice_Site SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:155643029G>C ENST00000496455.1 + 12 1769 c.e12-1 GMPS_ENST00000295920.7_Splice_Site NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTTTTTCTCAGCCACATACCC 0.368000 T MLL AML 5 44 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161989751 161989751 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:161989751G>A ENST00000294794.3 - 2 819 c.396C>T c.(394-396)ttC>ttT p.F132F OLFML2B_ENST00000367940.2_Silent_p.F132F NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 132 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TCTGGAGCCTGAAGTCTCCCT 0.572000 6 52 0 0 1 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822407 103822407 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:103822407A>G ENST00000296422.7 - 12 1556 c.1415T>C c.(1414-1416)gTa>gCa p.V472A SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 472 integral to membrane solute:hydrogen antiporter activity TAAAAATGCTACTGTCATCAC 0.458000 20 281 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783678 47783678 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:47783678C>T ENST00000359568.5 + 14 2545 c.2438C>T c.(2437-2439)tCc>tTc p.S813F PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 813 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTGGAGAGGTCCTTGACGGAG 0.592000 26 123 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798635 55798635 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:55798635A>G ENST00000313555.1 + 1 741 c.741A>G c.(739-741)gcA>gcG p.A247A NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ACCTCATAGCAGTCACCTTAT 0.443000 12 84 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61652390 61652390 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:61652390G>C ENST00000397985.2 + 6 887 c.631G>C c.(631-633)Gta>Cta p.V211L SERPINB8_ENST00000353706.2_Missense_Mutation_p.V211L|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V29L|SERPINB8_ENST00000397988.3_Missense_Mutation_p.V211L NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 211 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TGCGGATGAGGTACACACCCA 0.473000 10 42 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528564 157528564 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:157528564G>A ENST00000346085.5 + 20 6290 c.6289G>A c.(6289-6291)Gac>Aac p.D2097N ARID1B_ENST00000275248.4_Missense_Mutation_p.D2079N|ARID1B_ENST00000350026.5_Missense_Mutation_p.D2084N|ARID1B_ENST00000367148.1_Missense_Mutation_p.D2137N NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2084 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAATAATGTGGACCTGATCTT 0.483000 41 260 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31538378 31538378 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:31538378G>T ENST00000261592.5 - 7 1358 c.1061C>A c.(1060-1062)cCt>cAt p.P354H NOL4_ENST00000535384.1_Missense_Mutation_p.P69H|NOL4_ENST00000589544.1_Missense_Mutation_p.P354H|NOL4_ENST00000535475.1_Missense_Mutation_p.P199H|NOL4_ENST00000269185.4_Missense_Mutation_p.P240H|NOL4_ENST00000538587.1_Missense_Mutation_p.P280H NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 354 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ACTATGTGCAGGAGACTGAAA 0.388000 29 122 1.17739e-12 1.61237e-12 1 1 0 MPPED2 744 broad.mit.edu 37 11 30517017 30517017 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:30517017G>A ENST00000448418.2 - 4 722 c.362C>T c.(361-363)aCa>aTa p.T121I MPPED2_ENST00000358117.5_Missense_Mutation_p.T121I NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 121 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 CTTATCAAATGTCAGTTCATG 0.393000 12 50 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609969 84609969 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:84609969C>G ENST00000344803.2 + 4 4631 c.4584C>G c.(4582-4584)aaC>aaG p.N1528K NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CACATCCAAACCCCACTTGCC 0.537000 7 23 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171375953 171375953 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:171375953A>T ENST00000334231.6 + 30 3505 c.3505A>T c.(3505-3507)Agg>Tgg p.R1169W MYO3B_ENST00000409044.3_Missense_Mutation_p.R1133W|MYO3B_ENST00000408978.4_Missense_Mutation_p.R1160W|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 1160 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CTCAGTTCTCAGGGGCTCTGT 0.488000 4 45 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94330997 94330997 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:94330997G>T ENST00000299001.6 + 11 1507 c.1296G>T c.(1294-1296)gaG>gaT p.E432D RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 432 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTGAACTAGAGACCTGGGGAC 0.378000 7 53 5.68852e-11 7.60012e-11 1 1 0 SCN8A 6334 broad.mit.edu 37 12 52080928 52080928 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:52080928G>T ENST00000354534.5 + 5 717 c.539G>T c.(538-540)aGa>aTa p.R180I SCN8A_ENST00000545061.1_Missense_Mutation_p.R180I|SCN8A_ENST00000550891.1_Missense_Mutation_p.R180I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 180 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATCATTGCAAGAGGTTTCTGC 0.388000 7 40 0.0293803 0.0299576 1 1 0 PPARGC1B 133522 broad.mit.edu 37 5 149212622 149212622 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:149212622C>T ENST00000309241.5 + 5 1018 c.986C>T c.(985-987)tCc>tTc p.S329F PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S290F|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S265F|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S329F NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 329 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CGGCCCTGGTCCCGGCACCAC 0.632000 40 58 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75849105 75849105 + Nonsense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:75849105C>T ENST00000211998.4 + 9 1268 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* VCL_ENST00000372755.3_Nonsense_Mutation_p.Q392*|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 392 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CGATGCTGCTCAGGTAGTCAC 0.423000 10 37 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531995 140531995 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:140531995G>C ENST00000231136.1 + 1 2157 c.2157G>C c.(2155-2157)tcG>tcC p.S719S PCDHB6_ENST00000543635.1_Silent_p.S583S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 719 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCGGCCTCGGTGGGTCGCT 0.647000 49 221 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627366 21627366 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:21627366C>T ENST00000425654.2 + 19 2713 c.2233C>T c.(2233-2235)Cca>Tca p.P745S CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775S|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775S|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726S NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 775 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AATTGAGACGCCACTGACAAG 0.562000 24 52 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544935 23544935 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:23544935A>T ENST00000300619.7 - 4 1051 c.846T>A c.(844-846)acT>acA p.T282T ZNF91_ENST00000397082.2_Silent_p.T250T|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 282 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCTTATGTCTAGTTAGGGTTG 0.383000 7 85 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52566525 52566525 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:52566525T>A ENST00000395489.2 - 15 2124 c.1728A>T c.(1726-1728)gcA>gcT p.A576A A1CF_ENST00000374001.1_Silent_p.A575A|A1CF_ENST00000395495.1_Silent_p.A528A|A1CF_ENST00000373993.1_Silent_p.A583A|A1CF_ENST00000373995.3_Silent_p.A583A|A1CF_ENST00000373997.3_Silent_p.A575A|A1CF_ENST00000282641.2_Silent_p.A583A|ASAH2B_ENST00000483649.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 583 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGGCAGTCACTGCAAAAGTTG 0.413000 13 71 0 0 1 0 0 SSPN 8082 broad.mit.edu 37 12 26377295 26377295 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:26377295A>T ENST00000242729.2 + 2 526 c.349A>T c.(349-351)Att>Ttt p.I117F RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000535504.1_Missense_Mutation_p.I117F|SSPN_ENST00000540266.1_Missense_Mutation_p.I14F|SSPN_ENST00000422622.2_Missense_Mutation_p.I14F NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 117 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) ACGGACATGTATTCAATTTTC 0.378000 30 175 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999173 143999173 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:143999173G>T ENST00000323110.2 - 1 86 c.84C>A c.(82-84)gcC>gcA p.A28A NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 28 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGCCCGAGCGGCTCTAGTGC 0.647000 Familial Hyperaldosteronism type I 14 142 2.31682e-05 2.62573e-05 1 1 0 HBD 3045 broad.mit.edu 37 11 5255395 5255395 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:5255395C>T ENST00000380299.3 - 2 355 c.141G>A c.(139-141)ggG>ggA p.G47G HBD_ENST00000292901.3_Silent_p.G47G NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 47 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGACAGATCCCCAAAGGACT 0.527000 29 94 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717339 13717339 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:13717339C>T ENST00000279593.3 - 13 3042 c.2833G>A c.(2833-2835)Gac>Aac p.D945N NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 945 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) GATTTGCAGTCAGAATGCGTG 0.557000 49 142 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389780 150389780 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:150389780G>T ENST00000223293.5 + 3 500 c.406G>T c.(406-408)Gat>Tat p.D136Y NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 136 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTTGGAGAGGATGCCATGGG 0.542000 19 34 6.94344e-10 9.02007e-10 1 1 0 FMO4 2329 broad.mit.edu 37 1 171292287 171292287 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:171292287G>T ENST00000367749.3 + 4 607 c.277G>T c.(277-279)Gaa>Taa p.E93* FMO4_ENST00000462992.1_3'UTR NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 93 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTATCTCCAAGAATTTGCTGA 0.383000 8 71 1.06961e-07 1.31665e-07 1 1 0 ABCB1 5243 broad.mit.edu 37 7 87170749 87170749 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:87170749T>G ENST00000265724.3 - 19 2660 c.2243A>C c.(2242-2244)aAa>aCa p.K748T ABCB1_ENST00000543898.1_Missense_Mutation_p.K684T NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 748 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATTCTGTCGTTTTGTTTCAGG 0.323000 8 54 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53554646 53554646 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:53554646C>A ENST00000371494.4 - 10 1494 c.1367G>T c.(1366-1368)cGt>cTt p.R456L SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 456 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GGTGCGGAAACGGTCCCTGGT 0.612000 10 59 0.00621372 0.00651779 1 1 0 WDR3 10885 broad.mit.edu 37 1 118492655 118492655 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:118492655G>A ENST00000349139.4 + 15 1695 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 550 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GCAACTAGATGAAGATGTTCT 0.358000 49 135 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153144051 153144051 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:153144051C>A ENST00000285900.5 + 12 2224 c.1881C>A c.(1879-1881)atC>atA p.I627I GRIA1_ENST00000340592.5_Silent_p.I627I|GRIA1_ENST00000518142.1_Silent_p.I547I|GRIA1_ENST00000521843.2_Silent_p.I558I|GRIA1_ENST00000518783.1_Silent_p.I637I|GRIA1_ENST00000448073.4_Silent_p.I637I NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 627 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TAATCATCATCTCCTCATATA 0.542000 13 60 0.0167234 0.0172122 1 1 0 OR2G2 81470 broad.mit.edu 37 1 247752598 247752598 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:247752598G>C ENST00000320065.1 + 1 937 c.937G>C c.(937-939)Gga>Cga p.G313R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G313R(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAAGGCTCTGGGAGtaaatat 0.318000 30 80 0 0 1 0 0 SULT1E1 6783 broad.mit.edu 37 4 70715155 70715155 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:70715155C>A ENST00000226444.3 - 5 608 c.496_splice c.e5+1 p.V166_splice NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 166 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTGTTCCTACCCTGTCCTTGC 0.378000 6 43 0.00198382 0.00210327 1 1 0 A2ML1 144568 broad.mit.edu 37 12 9013486 9013486 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:9013486G>T ENST00000299698.7 + 27 3454 c.3274G>T c.(3274-3276)Gat>Tat p.D1092Y A2ML1_ENST00000539547.1_Missense_Mutation_p.D601Y NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 936 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GGGTGGTGTTGATGATGAGGT 0.517000 OREG0021663 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 105 2.80697e-09 3.60844e-09 1 1 0 DUSP27 92235 broad.mit.edu 37 1 167096921 167096921 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:167096921G>T ENST00000361200.2 + 6 2719 c.2553G>T c.(2551-2553)atG>atT p.M851I DUSP27_ENST00000443333.1_Missense_Mutation_p.M851I|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.M851I Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 851 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGGAGAAGATGTCTGAGTACA 0.498000 36 36 4.65686e-17 6.70316e-17 1 1 0 OPN1MW 2652 broad.mit.edu 37 X 153458999 153458999 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:153458999G>A ENST00000369935.5 + 5 905 c.845G>A c.(844-846)gGa>gAa p.G282E OPN1MW_ENST00000468495.1_3'UTR NM_000513.2 NP_000504.1 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 282 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|lung(1) 2 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTCTGCTGGGGACCATACGCC 0.572000 37 136 0 0 1 0 0 HMGA2 8091 broad.mit.edu 37 12 66308894 66308894 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:66308894C>A ENST00000354636.3 + 4 1116 c.305C>A c.(304-306)aCc>aAc p.T102N AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000393577.3_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000541363.1_Intron NM_003484.1 NP_003475.1 P52926 HMGA2_HUMAN high mobility group AT-hook 2 102 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) GGAAACAGTACCAAAAGGAGT 0.423000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 14 115 0.000151284 0.000166666 1 1 0 RNF133 168433 broad.mit.edu 37 7 122338136 122338136 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:122338136G>T ENST00000340112.2 - 1 1074 c.837C>A c.(835-837)caC>caA p.H279Q CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 279 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TGCAATTCTTGTGGAAAAAAT 0.373000 59 66 2.69953e-25 4.06373e-25 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 9 66 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28911790 28911790 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:28911790C>A ENST00000257192.4 + 6 856 c.644C>A c.(643-645)aCt>aAt p.T215N NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 215 Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AACAGAAATACTGGAGAAATT 0.338000 11 42 3.07112e-06 3.59634e-06 1 1 0 NFATC1 4772 broad.mit.edu 37 18 77170431 77170431 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:77170431C>T ENST00000253506.5 + 2 525 c.156C>T c.(154-156)gtC>gtT p.V52V NFATC1_ENST00000542384.1_Silent_p.V52V|NFATC1_ENST00000586434.1_Silent_p.V39V|NFATC1_ENST00000427363.2_Silent_p.V52V|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.V52V|NFATC1_ENST00000318065.5_Silent_p.V39V|NFATC1_ENST00000329101.4_Silent_p.V39V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000591814.1_Silent_p.V52V|NFATC1_ENST00000592223.1_Silent_p.V39V NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 52 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCTCCAACGTCAGCCCCGCCC 0.622000 32 153 0 0 1 0 0 CSF2 1437 broad.mit.edu 37 5 131409791 131409791 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:131409791C>T ENST00000296871.2 + 2 211 c.177C>T c.(175-177)gtC>gtT p.V59V NM_000758.3 NP_000749.2 P04141 CSF2_HUMAN colony stimulating factor 2 (granulocyte-macrophage) 59 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity skin(1) 1 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) CAGTAGAAGTCATCTCAGAAA 0.517000 12 58 0 0 1 0 0 RCHY1 25898 broad.mit.edu 37 4 76434498 76434498 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:76434498G>A ENST00000324439.5 - 2 497 c.99C>T c.(97-99)tgC>tgT p.C33C RCHY1_ENST00000451788.1_Silent_p.C33C|RCHY1_ENST00000512706.1_Silent_p.C11C|RCHY1_ENST00000513257.1_Silent_p.C33C|RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000380840.2_Intron 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 33 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) GCTTGTCACAGCAAGGTGCCT 0.388000 4 15 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4052197 4052197 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:4052197G>C ENST00000337659.6 + 10 2281 c.2181G>C c.(2179-2181)aaG>aaC p.K727N PRPF4B_ENST00000538861.1_Missense_Mutation_p.K713N NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 727 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTAGGCAAAAGACTGGTTTAA 0.328000 10 21 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153209828 153209828 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:153209828G>A ENST00000412763.1 - 2 239 c.70C>T c.(70-72)Cgc>Tgc p.R24C RENBP_ENST00000369997.3_Missense_Mutation_p.R24C|RENBP_ENST00000393700.3_Missense_Mutation_p.R24C P51606 RENBP_HUMAN renin binding protein 24 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TGCCCCACGCGCTCCTTCCAG 0.657000 26 74 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100168787 100168787 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:100168787A>C ENST00000395996.1 + 15 2135 c.2024A>C c.(2023-2025)aAc>aCc p.N675T VPS13B_ENST00000355155.1_Missense_Mutation_p.N675T|VPS13B_ENST00000358544.2_Missense_Mutation_p.N675T|VPS13B_ENST00000357162.2_Missense_Mutation_p.N675T Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 675 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AACTCAAGTAACTTCATGAAT 0.378000 14 75 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814219 123814219 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:123814219G>T ENST00000321252.2 - 1 361 c.327C>A c.(325-327)acC>acA p.T109T NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 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;0.0401) AGAAGTCAGTGGTGCCTAGAA 0.522000 9 58 7.48243e-07 8.91024e-07 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219483373 219483373 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:219483373C>T ENST00000450993.2 + 4 592 c.253C>T c.(253-255)Ctc>Ttc p.L85F PLCD4_ENST00000417849.1_Missense_Mutation_p.L85F|PLCD4_ENST00000432688.1_Missense_Mutation_p.L85F NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 85 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGCAGAGGAGCTCCCCCTGGA 0.562000 8 36 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123776293 123776293 + Silent SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:123776293A>C ENST00000223642.1 - 17 2144 c.2115T>G c.(2113-2115)gtT>gtG p.V705V NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 705 Anaphylatoxin-like. activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CATCATTATTAACGCAGGCTC 0.433000 19 69 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59544956 59544956 + Missense_Mutation SNP C C T rs141536152 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:59544956C>T ENST00000393853.4 + 5 650 c.487C>T c.(487-489)Cgg>Tgg p.R163W TBX4_ENST00000240335.1_Missense_Mutation_p.R163W P57082 TBX4_HUMAN T-box 4 163 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R163W(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCACTGGATGCGGCAGCTGGT 0.612000 16 39 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238242168 238242168 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:238242168G>C ENST00000295550.4 - 42 9705 c.9253C>G c.(9253-9255)Cag>Gag p.Q3085E COL6A3_ENST00000347401.3_Missense_Mutation_p.Q2884E|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q2885E|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q2478E|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q2879E|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q2879E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 3085 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTTGCTGGCTGTGGAGGTGGG 0.428000 5 58 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422859 55422859 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:55422859C>G ENST00000341048.4 - 8 838 c.687G>C c.(685-687)gaG>gaC p.E229D ANKRD55_ENST00000504958.2_Missense_Mutation_p.E186D|ANKRD55_ENST00000505970.2_Intron NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 228 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) TCTTCCCACTCTCATCATCAT 0.498000 22 90 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29747233 29747233 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:29747233G>T ENST00000375398.2 - 40 7037 c.6588C>A c.(6586-6588)taC>taA p.Y2196* PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Nonsense_Mutation_p.Y1110*|SVIL_ENST00000355867.4_Nonsense_Mutation_p.Y2196*|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Nonsense_Mutation_p.Y1770* O95425 SVIL_HUMAN supervillin 2196 HP. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding 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) GCAGGGCGTTGTATTCATCCC 0.572000 24 92 5.35356e-11 7.17202e-11 1 1 0 SMCR8 140775 broad.mit.edu 37 17 18219775 18219775 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:18219775T>G ENST00000406438.3 + 1 1152 c.672T>G c.(670-672)ttT>ttG p.F224L NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 224 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 ACAAAGGCTTTTACTCATCTC 0.463000 9 24 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67052428 67052428 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:67052428G>T ENST00000308595.5 + 19 2055 c.1765G>T c.(1765-1767)Gag>Tag p.E589* ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 589 PH. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CAACCGCCTCGAGTGGCGGGG 0.692000 4 21 1.58986e-06 1.87737e-06 1 1 0 BTBD3 22903 broad.mit.edu 37 20 11903467 11903467 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:11903467C>T ENST00000405977.1 + 5 1347 c.722C>T c.(721-723)aCc>aTc p.T241I BTBD3_ENST00000254977.3_Missense_Mutation_p.T180I|BTBD3_ENST00000378226.2_Missense_Mutation_p.T241I|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000399006.2_Missense_Mutation_p.T180I Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 241 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CCAGACCTGACCCAGCGTTGC 0.537000 31 105 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106333 55106333 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:55106333C>A ENST00000453777.1 + 4 444 c.274C>A c.(274-276)Cac>Aac p.H92N LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.H92N|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 92 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CACCTGGGAACACACAGGGCG 0.562000 48 75 9.58827e-17 1.37814e-16 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80626846 80626846 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:80626846C>T ENST00000458043.2 + 8 765 c.759C>T c.(757-759)gaC>gaT p.D253D OTOGL_ENST00000547103.1_Silent_p.D253D NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ACTACAATGACATTCAATCTG 0.428000 12 16 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824514 54824514 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:54824514C>A ENST00000243911.2 + 1 727 c.615C>A c.(613-615)acC>acA p.T205T NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 242 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCATGGGCACCCTCTACGTGC 0.582000 20 104 0.000132079 0.000145834 1 1 0 CYP11B2 1585 broad.mit.edu 37 8 143999174 143999174 + Missense_Mutation SNP G G T rs143027239 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:143999174G>T ENST00000323110.2 - 1 85 c.83C>A c.(82-84)gCc>gAc p.A28D NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 28 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGCCCGAGCGGCTCTAGTGCC 0.647000 Familial Hyperaldosteronism type I 14 141 2.31682e-05 2.62573e-05 1 1 0 HTR4 3360 broad.mit.edu 37 5 147830794 147830794 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:147830794T>C ENST00000354217.2 - 7 1281 c.1118A>G c.(1117-1119)aAa>aGa p.K373R HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.K373R Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 0 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) TATGGGCAGTTTCTCGAGTTC 0.473000 16 127 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190250792 190250792 + Missense_Mutation SNP G G C rs142073525 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:190250792G>C ENST00000367462.3 - 3 556 c.325C>G c.(325-327)Cgc>Ggc p.R109G FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 109 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTATGTTGCGGAAGAATTCA 0.448000 37 45 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775669 234775669 + RNA SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:234775669G>A ENST00000438684.1 - 0 445 NR_024322.1 CTCATTGGCTGAAAAGGCTGC 0.448000 16 87 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620110 56620110 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:56620110C>T ENST00000321691.3 - 1 1619 c.1438G>A c.(1438-1440)Gca>Aca p.A480T RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 480 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GATAGGCTTGCCTTCTCTCTC 0.478000 81 228 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149362 41149362 + Nonsense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:41149362A>T ENST00000263413.3 - 17 2868 c.2604T>A c.(2602-2604)taT>taA p.Y868* C6_ENST00000337836.5_Nonsense_Mutation_p.Y868* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 868 C5b-binding domain.|Complement control factor I module 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTCCCAGTCATAGCAGGTGT 0.428000 70 333 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6190297 6190297 + Translation_Start_Site SNP G G A rs146316835 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:6190297G>A ENST00000378021.1 - 0 3453 CHD5_ENST00000262450.3_Silent_p.Y1118Y Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGTCCGAGTCGTAGATGATGA 0.642000 11 49 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48537039 48537039 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:48537039G>T ENST00000396577.3 + 11 1605 c.1390G>T c.(1390-1392)Ggc>Tgc p.G464C SLC12A1_ENST00000558405.1_Missense_Mutation_p.G464C|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G464C NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 464 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ATGTGGGTTGGGCTATGACTT 0.458000 6 31 0.00116845 0.00124685 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159284174 159284174 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:159284174G>A ENST00000332217.5 - 1 275 c.276C>T c.(274-276)ccC>ccT p.P92P NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGGTGGCAATGGGCTGATGAG 0.498000 45 97 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179530484 179530484 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:179530484A>T ENST00000367615.4 - 3 459 c.391T>A c.(391-393)Tat>Aat p.Y131N NPHS2_ENST00000367616.4_Missense_Mutation_p.Y131N NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 131 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 ACTCTTTCATACTCTTGTACA 0.378000 49 111 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135722317 135722317 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:135722317G>A ENST00000264977.3 + 2 2594 c.1977G>A c.(1975-1977)caG>caA p.Q659Q PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 659 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGATTCAGCAGACTCCAGAGG 0.363000 18 73 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14306661 14306661 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:14306661C>T ENST00000378053.3 - 2 1748 c.1492G>A c.(1492-1494)Gag>Aag p.E498K FLRT3_ENST00000341420.4_Missense_Mutation_p.E498K|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 498 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) GTTTCAGTCTCAATACAAACA 0.458000 17 120 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022494 34022494 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:34022494C>T ENST00000374372.1 - 4 1222 c.719G>A c.(718-720)cGg>cAg p.R240Q GDF5_ENST00000374369.3_Missense_Mutation_p.R240Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R180C P43026 GDF5_HUMAN growth differentiation factor 5 240 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CCGCAAGATCCGCAGCTCGGC 0.667000 14 148 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171258165 171258165 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:171258165G>T ENST00000334231.6 + 18 2120 c.2120G>T c.(2119-2121)cGc>cTc p.R707L MYO3B_ENST00000408978.4_Missense_Mutation_p.R698L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.R698L Q8WXR4 MYO3B_HUMAN myosin IIIB 698 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ATTGTGAATCGCATTAATACA 0.542000 11 55 5.16669e-11 6.94053e-11 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25429470 25429470 + RNA SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:25429470C>T ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 TGATGAGAACCTTACATTGTT 0.517000 41 233 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282900 69282900 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:69282900A>G ENST00000338352.2 + 1 560 c.526A>G c.(526-528)Agc>Ggc p.S176G NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 176 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CCGCACCGCCAGCTACATGAA 0.597000 9 20 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 156184629 156184629 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:156184629C>A ENST00000435422.3 + 7 1097 c.610C>A c.(610-612)Cca>Aca p.P204T SGCD_ENST00000447401.1_Missense_Mutation_p.P205T|SGCD_ENST00000517913.1_Missense_Mutation_p.P205T|SGCD_ENST00000337851.4_Missense_Mutation_p.P205T NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 204 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.P205T(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGGCCCCAAAAGGAGT 0.458000 5 11 5.9392e-07 7.09824e-07 1 1 0 AKAP8L 26993 broad.mit.edu 37 19 15512273 15512273 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:15512273G>A ENST00000397410.4 - 5 568 c.504C>T c.(502-504)ttC>ttT p.F168F AKAP8L_ENST00000595465.1_Silent_p.F107F|AKAP8L_ENST00000595136.1_Intron NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 168 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CACGCATGCGGAACTGGTCGC 0.647000 14 81 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131539795 131539795 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:131539795G>T ENST00000401867.1 - 10 1699 c.1131C>A c.(1129-1131)gcC>gcA p.A377A P4HA2_ENST00000379100.2_Silent_p.A377A|P4HA2_ENST00000360568.3_Silent_p.A377A|P4HA2_ENST00000379104.2_Silent_p.A377A|P4HA2_ENST00000166534.4_Silent_p.A377A|P4HA2_ENST00000379086.1_Silent_p.A377A O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 377 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CCCGGTAGCTGGCGACAGTGA 0.522000 6 97 8.12818e-05 8.98474e-05 1 1 0 MRPL21 219927 broad.mit.edu 37 11 68668016 68668016 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:68668016C>A ENST00000362034.2 - 2 155 c.146_splice c.e2+1 p.G49_splice MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR NM_181514.1|NM_181515.1 NP_852615.1|NP_852616.1 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 49 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTGATATTACCCTGGTAGATA 0.378000 23 158 2.39556e-15 3.39372e-15 1 1 0 KRT1 3848 broad.mit.edu 37 12 53074188 53074188 + Translation_Start_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:53074188C>A ENST00000252244.3 - 0 3 NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CTAAACACTCCTCTACCCCAA 0.488000 6 43 0.217242 0.218127 1 1 0 CD109 135228 broad.mit.edu 37 6 74524753 74524753 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:74524753G>T ENST00000437994.2 + 30 4198 c.3767G>T c.(3766-3768)aGa>aTa p.R1256I CD109_ENST00000422508.2_Missense_Mutation_p.R1196I|CD109_ENST00000287097.5_Missense_Mutation_p.R1273I NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1273 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGAAGACGAAGATCTATCCAA 0.323000 9 19 1.12685e-05 1.29496e-05 1 1 0 WBP2 23558 broad.mit.edu 37 17 73843060 73843060 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:73843060C>T ENST00000591399.1 - 8 1085 c.661G>A c.(661-663)Gcc>Acc p.A221T WBP2_ENST00000590221.1_Missense_Mutation_p.A217T|WBP2_ENST00000585462.1_Missense_Mutation_p.A199T|WBP2_ENST00000254806.3_Missense_Mutation_p.A221T|WBP2_ENST00000344296.4_Missense_Mutation_p.A199T|WBP2_ENST00000433525.2_Missense_Mutation_p.A176T Q969T9 WBP2_HUMAN WW domain binding protein 2 221 Pro-rich. protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGGCCTTGGCTTCGGCTGTG 0.632000 8 32 0 0 1 0 0 CMTM4 146223 broad.mit.edu 37 16 66670368 66670368 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:66670368C>A ENST00000330687.4 - 2 484 c.303G>T c.(301-303)ttG>ttT p.L101F CMTM4_ENST00000563952.1_Missense_Mutation_p.L72F|CMTM4_ENST00000394106.2_Missense_Mutation_p.L101F NM_178818.2|NM_181521.2 NP_848933.1|NP_852662.1 Q8IZR5 CKLF4_HUMAN CKLF-like MARVEL transmembrane domain containing 4 101 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) ACATAATCAGCAAGACGCCAG 0.502000 15 50 6.31663e-08 7.82436e-08 1 1 0 C3P1 388503 broad.mit.edu 37 19 10169736 10169736 + RNA SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:10169736G>C ENST00000495140.1 + 0 2136 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 agtgtttcctgagcatccact 0.517000 17 30 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752051 247752051 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:247752051C>G ENST00000320065.1 + 1 390 c.390C>G c.(388-390)tgC>tgG p.C130W RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTGTCTGCCGTCCTCTCC 0.542000 30 247 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179443544 179443544 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179443544C>T ENST00000589042.1 - 320 68437 c.68213G>A c.(68212-68214)aGa>aAa p.R22738K RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13865K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13798K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R21097K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20170K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13673K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21097 Fibronectin type-III 65. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATGGATGTCTCGCAACAAT 0.398000 11 81 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213170529 213170529 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:213170529G>A ENST00000366962.3 - 8 1605 c.1451C>T c.(1450-1452)tCt>tTt p.S484F ANGEL2_ENST00000535388.1_3'UTR|ANGEL2_ENST00000360506.2_Missense_Mutation_p.S315F|ANGEL2_ENST00000540642.1_Missense_Mutation_p.S358F|ANGEL2_ENST00000544555.1_Missense_Mutation_p.S315F|ANGEL2_ENST00000473303.1_5'UTR NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 484 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) CTTTTCTGCAGAGTAGAAAAT 0.403000 17 72 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100533 168100533 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:168100533T>C ENST00000409195.1 + 9 2720 c.2631T>C c.(2629-2631)caT>caC p.H877H XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.H877H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.H655H|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 702 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTACTAAGCATCTATTTGAAA 0.378000 19 96 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55280856 55280856 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:55280856C>A ENST00000256854.5 - 5 854 c.399G>T c.(397-399)tgG>tgT p.W133C NARS_ENST00000423481.2_Intron NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 133 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GCCTGTGGACCCAGCCAAACA 0.368000 11 46 4.36969e-10 5.70664e-10 1 1 0 ZNF226 7769 broad.mit.edu 37 19 44681351 44681351 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:44681351G>A ENST00000590089.1 + 7 2303 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K ZNF226_ENST00000454662.2_Missense_Mutation_p.E646K|ZNF226_ENST00000337433.5_Missense_Mutation_p.E646K|ZNF226_ENST00000588883.1_3'UTR Q9NYT6 ZN226_HUMAN zinc finger protein 226 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) ATTCAAATGTGAAGAATGTGG 0.463000 31 107 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104030188 104030188 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:104030188C>T ENST00000265148.3 - 48 7872 c.7783G>A c.(7783-7785)Gag>Aag p.E2595K CENPE_ENST00000380026.3_Missense_Mutation_p.E2474K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2595 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TTGTGAGCCTCTCTTTTAAGG 0.388000 10 43 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97634411 97634411 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:97634411T>A ENST00000275053.4 - 15 2460 c.2195A>T c.(2194-2196)cAg>cTg p.Q732L MMS22L_ENST00000369251.2_Missense_Mutation_p.Q692L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 732 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 AGGCACTACCTGTGACATTCT 0.418000 13 59 0 0 1 0 0 AUH 549 broad.mit.edu 37 9 94060303 94060303 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:94060303A>G ENST00000375731.4 - 5 584 c.561T>C c.(559-561)ggT>ggC p.G187G AUH_ENST00000422391.2_Silent_p.G187G|AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Silent_p.G158G NM_001698.2 NP_001689.1 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-CoA hydratase 187 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CCAGTTCAAGACCACCACCTA 0.343000 14 32 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30825289 30825289 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:30825289T>A ENST00000383096.3 - 15 1695 c.1513A>T c.(1513-1515)Att>Ttt p.I505F CCDC178_ENST00000579947.1_Missense_Mutation_p.I505F|CCDC178_ENST00000403303.1_Missense_Mutation_p.I505F|CCDC178_ENST00000583930.1_Missense_Mutation_p.I505F|CCDC178_ENST00000406524.2_Missense_Mutation_p.I505F|CCDC178_ENST00000402325.1_Missense_Mutation_p.I505F|CCDC178_ENST00000300227.8_Missense_Mutation_p.I505F|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 AGAGTACCAATGCGATAAGCC 0.323000 8 11 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134125759 134125759 + Missense_Mutation SNP G G A rs144050001 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:134125759G>A ENST00000220616.4 + 44 7706 c.7666G>A c.(7666-7668)Gtc>Atc p.V2556I TG_ENST00000377869.1_Missense_Mutation_p.V2499I|TG_ENST00000542445.1_Missense_Mutation_p.V926I|TG_ENST00000519543.1_Missense_Mutation_p.V689I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2556 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGATGCCCGCGTCGAGGCTGC 0.547000 20 44 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59952278 59952278 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:59952278G>A ENST00000444766.3 - 19 2677 c.2602C>T c.(2602-2604)Cac>Tac p.H868Y INTS2_ENST00000251334.6_Missense_Mutation_p.H860Y NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 868 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 ATGTACCTGTGAACCCTCTGA 0.328000 3 12 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528405 65528405 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:65528405G>C ENST00000310193.3 - 3 866 c.693C>G c.(691-693)ccC>ccG p.P231P NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 231 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GAAGCTCAATGGGTATGTTGG 0.308000 15 67 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29386495 29386495 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:29386495T>A ENST00000558402.1 + 9 1829 c.1230T>A c.(1228-1230)gcT>gcA p.A410A APBA2_ENST00000561069.1_Silent_p.A410A|APBA2_ENST00000558259.1_Silent_p.A410A|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000411764.1_Intron Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 410 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGCAAAAGGCTGCTAAGATCA 0.517000 21 93 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179586807 179586807 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179586807G>A ENST00000589042.1 - 78 22807 c.22583C>T c.(22582-22584)gCt>gTt p.A7528V TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7211V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6284V|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7211 Ig-like 57. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTTCTCCAGCAATAACATC 0.398000 34 144 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58299796 58299796 + Nonsense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:58299796C>A ENST00000300896.4 - 15 1917 c.1723G>T c.(1723-1725)Gga>Tga p.G575* USP32_ENST00000592339.1_Nonsense_Mutation_p.G245* NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 575 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AGGTTTGCTCCATACCAGTGA 0.428000 91 244 1.3521e-30 2.07014e-30 1 1 0 CAD 790 broad.mit.edu 37 2 27454872 27454872 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27454872C>T ENST00000264705.4 + 17 2587 c.2425C>T c.(2425-2427)Cgg>Tgg p.R809W CAD_ENST00000403525.1_Missense_Mutation_p.R746W|CAD_ENST00000464159.1_3'UTR NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 809 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AACAGATAAGCGGATTTTTGT 0.532000 12 82 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92301364 92301364 + Splice_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:92301364G>T ENST00000276609.3 + 3 433 c.193_splice c.e3-1 p.G65_splice SLC26A7_ENST00000523719.1_Splice_Site_p.G65_splice|SLC26A7_ENST00000309536.2_Splice_Site_p.G65_splice NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 65 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTCTTCACAGGATTGGCCTTT 0.383000 11 75 0.000673444 0.0007257 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50467627 50467627 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:50467627C>A ENST00000331340.3 + 8 1017 c.862C>A c.(862-864)Ctg>Atg p.L288M IKZF1_ENST00000346667.4_Missense_Mutation_p.L58M|IKZF1_ENST00000439701.1_Missense_Mutation_p.L246M|IKZF1_ENST00000438033.1_Missense_Mutation_p.L201M|IKZF1_ENST00000343574.5_Missense_Mutation_p.L201M|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Missense_Mutation_p.L201M|IKZF1_ENST00000359197.5_Missense_Mutation_p.L246M|IKZF1_ENST00000349824.4_Missense_Mutation_p.L145M NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 288 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGACAAGGGCCTGTCCGACAC 0.592000 """D,T""" BCL6 """ALL, DLBCL""" 3 23 0.150653 0.151731 1 1 0 IL9R 3581 broad.mit.edu 37 X 155239751 155239751 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:155239751C>A ENST00000424344.3 + 10 1547 c.1180C>A c.(1180-1182)Ccc>Acc p.P394T IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.P415T Q01113 IL9R_HUMAN interleukin 9 receptor 415 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GGACTGGGCCCCCACGTCCCT 0.637000 3 18 0.00116845 0.00124685 1 1 0 ADAT1 23536 broad.mit.edu 37 16 75634134 75634134 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:75634134C>A ENST00000307921.3 - 11 1634 c.1489G>T c.(1489-1491)Gat>Tat p.D497Y ADAT1_ENST00000568478.1_5'UTR|RP11-77K12.8_ENST00000564489.1_RNA NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 497 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 TGGTGATAATCCGGTGGGTTT 0.517000 27 110 9.39395e-14 1.31382e-13 1 1 0 USP20 10868 broad.mit.edu 37 9 132620769 132620769 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:132620769G>T ENST00000315480.4 + 6 380 c.222G>T c.(220-222)gtG>gtT p.V74V USP20_ENST00000358355.1_Silent_p.V74V|USP20_ENST00000372429.3_Silent_p.V74V Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 74 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) ACTTGACCGTGAACCTGACCA 0.552000 49 87 1.62263e-30 2.48048e-30 1 1 0 SOAT1 6646 broad.mit.edu 37 1 179306970 179306970 + Splice_Site SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:179306970A>C ENST00000367619.3 + 5 472 c.e5-1 SOAT1_ENST00000539888.1_Splice_Site|SOAT1_ENST00000540564.1_Splice_Site|SOAT1_ENST00000535686.1_Splice_Site NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TCCTCTTCTCAGGGATTTGAG 0.308000 7 7 0 0 1 0 0 TMEM174 134288 broad.mit.edu 37 5 72469361 72469361 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:72469361C>G ENST00000296776.5 + 1 340 c.291C>G c.(289-291)tcC>tcG p.S97S TMEM174_ENST00000511737.1_3'UTR NM_153217.2 NP_694949.1 Q8WUU8 TM174_HUMAN transmembrane protein 174 97 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) AAATGCTCTCCTGCCAGTTGT 0.522000 12 79 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20766705 20766705 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:20766705T>A ENST00000404938.2 + 22 3320 c.2668T>A c.(2668-2670)Tta>Ata p.L890I ABCB5_ENST00000258738.6_Missense_Mutation_p.L445I NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 445 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TATAGTGTCATTAACAAGGGA 0.313000 11 38 0 0 1 0 0 TSSC4 10078 broad.mit.edu 37 11 2424510 2424510 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:2424510C>A ENST00000333256.6 + 3 1090 c.647C>A c.(646-648)aCc>aAc p.T216N TSSC4_ENST00000380996.5_Missense_Mutation_p.T152N|TSSC4_ENST00000451491.2_Missense_Mutation_p.T216N|TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000380992.1_Intron Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 216 endometrium(3)|large_intestine(1)|lung(4) 8 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCATCTTCACCAAACCAGTC 0.652000 6 44 3.59834e-05 4.04556e-05 1 1 0 CPS1 1373 broad.mit.edu 37 2 211481179 211481179 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:211481179T>G ENST00000233072.5 + 21 2797 c.2601T>G c.(2599-2601)atT>atG p.I867M CPS1_ENST00000430249.2_Missense_Mutation_p.I873M|CPS1_ENST00000451903.2_Missense_Mutation_p.I416M NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 867 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTGATGAGATTGAGAAGCTCA 0.373000 14 82 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57372382 57372382 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:57372382T>C ENST00000361249.3 + 8 1235 c.1139T>C c.(1138-1140)tTg>tCg p.L380S NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 380 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GGAGGCTCCTTGGGCATTCAA 0.388000 36 95 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70782994 70782994 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:70782994C>G ENST00000373719.3 + 17 2380 c.2163C>G c.(2161-2163)atC>atG p.I721M OGT_ENST00000373701.3_Missense_Mutation_p.I711M NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 721 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) AAGCAGTCATCGATTTTAAGT 0.333000 37 36 0 0 1 0 0 MYO1H 283446 broad.mit.edu 37 12 109838916 109838916 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:109838916C>T ENST00000310903.5 + 6 647 c.541C>T c.(541-543)Cat>Tat p.H181Y MYO1H_ENST00000431443.2_Missense_Mutation_p.H181Y B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CGTAGGTGGGCATATCATCAG 0.483000 4 23 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359304 178359304 + Missense_Mutation SNP G G T rs144510991 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:178359304G>T ENST00000361362.2 + 5 1520 c.990G>T c.(988-990)gaG>gaT p.E330D ZFP2_ENST00000503510.2_Missense_Mutation_p.E330D|ZFP2_ENST00000523286.1_Missense_Mutation_p.E330D|ZFP2_ENST00000520301.1_Missense_Mutation_p.E330D NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) AATGTAACGAGTGTGGAAAAG 0.363000 9 70 1.12685e-05 1.29496e-05 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80097056 80097056 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:80097056C>A ENST00000466387.1 + 9 1304 c.580C>A c.(580-582)Caa>Aaa p.Q194K CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q194K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q194K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q228K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q194K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q194K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 194 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGCAAGAAGACAACAGGTGGG 0.403000 15 79 1.3612e-06 1.61122e-06 1 1 0 CHD2 1106 broad.mit.edu 37 15 93524057 93524057 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:93524057T>A ENST00000394196.4 + 23 3957 c.2889T>A c.(2887-2889)ttT>ttA p.F963L CHD2_ENST00000557381.1_Missense_Mutation_p.F963L NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 963 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CAAATCCTTTTAATAAAGAAG 0.363000 7 36 0 0 1 0 0 MC4R 4160 broad.mit.edu 37 18 58039199 58039199 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:58039199C>T ENST00000299766.3 - 1 802 c.384G>A c.(382-384)gtG>gtA p.V128V NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 128 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) AGCTACAGATCACCGAGTCAA 0.398000 14 70 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212461 62212461 + Silent SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:62212461T>C ENST00000519846.1 + 3 547 c.75T>C c.(73-75)caT>caC p.H25H CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.H25H Q8IUQ0 CLVS1_HUMAN clavesin 1 25 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGATGACCCATTTACAGGCTG 0.453000 11 52 0 0 1 0 0 CENPA 1058 broad.mit.edu 37 2 27015103 27015103 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27015103C>T ENST00000335756.4 + 2 405 c.205C>T c.(205-207)Cgc>Tgc p.R69C CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R69C NM_001809.3 NP_001800.1 P49450 CENPA_HUMAN centromere protein A 69 H3-like. CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCTTCAGCCGCCTGGTAAG 0.512000 9 13 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34072467 34072467 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:34072467G>A ENST00000389232.4 + 65 9263 c.9193G>A c.(9193-9195)Gca>Aca p.A3065T RYR3_ENST00000415757.3_Missense_Mutation_p.A3065T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3065 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) CATACCAGTGGCATTCCTGGA 0.547000 4 31 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43783686 43783686 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:43783686C>T ENST00000405006.4 - 17 2823 c.2472G>A c.(2470-2472)ggG>ggA p.G824G THADA_ENST00000330266.7_Silent_p.G534G|THADA_ENST00000404790.1_Silent_p.G824G|THADA_ENST00000402360.2_Silent_p.G824G|THADA_ENST00000415080.2_Silent_p.G534G|THADA_ENST00000405975.2_Silent_p.G824G NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 824 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTGCAGTTTCCCCGAATCCT 0.403000 23 70 0 0 1 0 0 FAM217B 63939 broad.mit.edu 37 20 58519707 58519707 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:58519707C>T ENST00000358293.3 + 5 1124 c.709C>T c.(709-711)Cac>Tac p.H237Y FAM217B_ENST00000360816.3_Missense_Mutation_p.H237Y|FAM217B_ENST00000469084.1_3'UTR NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 237 GCCACTACCTCACCAGGAAGG 0.537000 17 123 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49676855 49676855 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:49676855C>G ENST00000339139.4 - 4 291 c.55G>C c.(55-57)Gca>Cca p.A19P NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 19 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTTCCTTCTGCAGGTAAAGAT 0.408000 8 46 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216017705 216017705 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:216017705C>A ENST00000366943.2 - 46 9575 c.9189G>T c.(9187-9189)aaG>aaT p.K3063N USH2A_ENST00000307340.3_Missense_Mutation_p.K3063N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3063 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCATTCCAGTCTTGTAGAGCT 0.398000 HNSCC(13;0.011) 13 63 5.50884e-06 6.36778e-06 1 1 0 POTEE 445582 broad.mit.edu 37 2 132021521 132021521 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:132021521C>G ENST00000356920.5 + 15 2587 c.2493C>G c.(2491-2493)gcC>gcG p.A831A PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 831 Actin-like. ATP binding ACACCCCAGCCATGTACGTGG 0.622000 35 274 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30891522 30891522 + Missense_Mutation SNP C C A rs146157052 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:30891522C>A ENST00000454381.3 - 6 663 c.617G>T c.(616-618)gGt>gTt p.G206V GADL1_ENST00000282538.5_Missense_Mutation_p.G206V Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 206 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) TCTTGGCGAACCAGACAGCCC 0.333000 5 30 0.014758 0.0152052 1 1 0 HDAC3 8841 broad.mit.edu 37 5 141008845 141008845 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:141008845T>G ENST00000305264.3 - 7 584 c.505A>C c.(505-507)Att>Ctt p.I169L NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 169 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) TGGATGTCAATGTCAATGTAG 0.537000 7 49 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36677181 36677181 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:36677181G>T ENST00000265113.4 + 6 1231 c.755G>T c.(754-756)tGc>tTc p.C252F SLC1A3_ENST00000381918.3_Missense_Mutation_p.C252F|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 252 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TTCTCCATGTGCTTCGGTTTT 0.493000 41 65 2.54651e-27 3.86881e-27 1 1 0 CUX1 1523 broad.mit.edu 37 7 101459331 101459331 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:101459331G>C ENST00000360264.3 + 1 41 c.21G>C c.(19-21)tcG>tcC p.S7S CUX1_ENST00000425244.2_Silent_p.S7S|CUX1_ENST00000437600.4_Silent_p.S7S|CUX1_ENST00000292538.4_Silent_p.S7S|CUX1_ENST00000547394.2_Silent_p.S7S|CUX1_ENST00000393824.3_Silent_p.S7S NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 0 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGTGGGATCGATGTTTCAAT 0.642000 10 74 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6986209 6986209 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:6986209C>A ENST00000389658.3 - 37 5399 c.5306G>T c.(5305-5307)aGg>aTg p.R1769M NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1769 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCAGCTTCCCTCACGAGCGC 0.498000 38 161 1.96642e-18 2.87243e-18 1 1 0 OR6K2 81448 broad.mit.edu 37 1 158669933 158669933 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:158669933C>A ENST00000359610.2 - 1 553 c.510G>T c.(508-510)tcG>tcT p.S170S NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CAAGGTGATTCGAACCACAAA 0.483000 16 112 6.31663e-08 7.82436e-08 1 1 0 GPR31 2853 broad.mit.edu 37 6 167571269 167571269 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:167571269C>A ENST00000366834.1 - 1 548 c.51G>T c.(49-51)gtG>gtT p.V17V NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 17 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) GCAAGACACCCACAGCTGTGG 0.657000 5 19 1.23904e-05 1.41892e-05 1 1 0 FBN3 84467 broad.mit.edu 37 19 8190789 8190789 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:8190789G>T ENST00000600128.1 - 22 3132 c.2718C>A c.(2716-2718)ggC>ggA p.G906G FBN3_ENST00000270509.2_Silent_p.G906G|FBN3_ENST00000601739.1_Silent_p.G906G Q75N90 FBN3_HUMAN fibrillin 3 906 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGCACAGCCGGCCTGAGGCGT 0.612000 14 60 6.72482e-11 8.94828e-11 1 1 0 SLC28A2 9153 broad.mit.edu 37 15 45560576 45560576 + Splice_Site SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:45560576G>A ENST00000347644.3 + 13 1433 c.1368_splice c.e13+1 p.Q456_splice CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 456 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity p.Q456H(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TCACTTTCCAGGTAAAGGATT 0.493000 23 72 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21220017 21220017 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:21220017C>T ENST00000602326.1 - 16 2679 c.2096G>A c.(2095-2097)gGc>gAc p.G699D EIF4G3_ENST00000544689.1_Missense_Mutation_p.G236D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G693D|EIF4G3_ENST00000537738.1_Missense_Mutation_p.G146D|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G413D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G699D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G693D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G297D NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 693 eIF3/EIF4A-binding (By similarity). Cleavage; by enterovirus/rhinovirus protease 2A. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TACAGGTACGCCTCTTCCACC 0.473000 9 69 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24231334 24231334 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:24231334T>A ENST00000321728.7 + 17 2091 c.1916T>A c.(1915-1917)gTg>gAg p.V639E PRKCB_ENST00000303531.7_3'UTR NM_212535.2 NP_997700.1 P05771 KPCB_HUMAN protein kinase C, beta 639 AGC-kinase C-terminal. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) AGACAGCCTGTGGAACTGACC 0.418000 20 41 0 0 1 0 0 SETMAR 6419 broad.mit.edu 37 3 4355405 4355405 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:4355405C>A ENST00000358065.4 + 2 1047 c.980C>A c.(979-981)gCc>gAc p.A327D SETMAR_ENST00000430981.1_Missense_Mutation_p.A327D|SETMAR_ENST00000425863.1_Missense_Mutation_p.A188D|SUMF1_ENST00000534863.1_Intron NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 314 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) TGTGGCTCAGCCCCTTCTGTG 0.512000 Chromatin Structure 16 52 2.23348e-06 2.62794e-06 1 1 0 AQP9 366 broad.mit.edu 37 15 58458936 58458936 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:58458936C>A ENST00000219919.4 + 2 546 c.176C>A c.(175-177)aCt>aAt p.T59N ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.T59N|AQP9_ENST00000558772.1_5'UTR NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 59 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GGGGTCATCACTATCAATGTT 0.463000 15 141 3.45872e-05 3.91089e-05 1 1 0 CDH6 1004 broad.mit.edu 37 5 31322950 31322950 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:31322950G>C ENST00000265071.2 + 12 2173 c.1908G>C c.(1906-1908)ctG>ctC p.L636L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 636 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTGCAGCTCTGAGGCGGCAGC 0.453000 19 106 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74867395 74867395 + Translation_Start_Site SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:74867395G>T ENST00000358434.2 - 0 124 M1AP_ENST00000290536.5_Missense_Mutation_p.P3H|M1AP_ENST00000409585.1_Missense_Mutation_p.P3H|M1AP_ENST00000536235.1_Missense_Mutation_p.P3H meiosis 1 associated protein AGTTCGCCCAGGATGCATGGC 0.507000 7 40 8.12818e-05 8.98474e-05 1 1 0 SPHKAP 80309 broad.mit.edu 37 2 228882609 228882609 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:228882609C>A ENST00000392056.3 - 7 3007 c.2961G>T c.(2959-2961)ggG>ggT p.G987G SPHKAP_ENST00000344657.5_Silent_p.G987G NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 987 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGGTCCCGCTCCCCTGGCTCT 0.532000 28 103 8.58068e-18 1.24603e-17 1 1 0 NR2C2 7182 broad.mit.edu 37 3 15057714 15057714 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:15057714G>T ENST00000425241.1 + 4 691 c.329G>T c.(328-330)cGg>cTg p.R110L NR2C2_ENST00000323373.6_Missense_Mutation_p.R129L|NR2C2_ENST00000393102.3_Missense_Mutation_p.R110L|NR2C2_ENST00000406272.2_Missense_Mutation_p.R110L P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 110 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GACGTCCAGCGGCCCCAGGTG 0.507000 17 90 1.67942e-08 2.12841e-08 1 1 0 ALDH9A1 223 broad.mit.edu 37 1 165652284 165652284 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:165652284G>A ENST00000354775.4 - 3 695 c.391C>T c.(391-393)Cgc>Tgc p.R131C ALDH9A1_ENST00000538148.1_Missense_Mutation_p.R37C|ALDH9A1_ENST00000461664.1_5'UTR NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 107 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) ATGTCCAAGCGGGCCTCAAAG 0.483000 35 132 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100617659 100617659 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:100617659G>T ENST00000471714.1 - 4 538 c.429C>A c.(427-429)ttC>ttA p.F143L ABI3BP_ENST00000495063.1_Missense_Mutation_p.F143L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.F143L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 143 Fibronectin type-III 1. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGTTGATGAGGAAACCCCAGG 0.488000 13 98 0.00136819 0.00145685 1 1 0 PHF12 57649 broad.mit.edu 37 17 27248797 27248797 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:27248797T>C ENST00000577226.1 - 5 1091 c.745A>G c.(745-747)Acc>Gcc p.T249A PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.T249A|PHF12_ENST00000268756.3_Missense_Mutation_p.T249A Q96QT6 PHF12_HUMAN PHD finger protein 12 249 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) TTCCCTGTGGTTTCCTCCTTT 0.428000 11 91 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824314 54824314 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:54824314G>C ENST00000243911.2 + 1 527 c.415G>C c.(415-417)Gcc>Ccc p.A139P NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 176 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CCTGGCCATCGCCGTCGACAG 0.572000 17 127 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78013835 78013835 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:78013835A>T ENST00000397545.4 + 3 345 c.318A>T c.(316-318)caA>caT p.Q106H CCDC40_ENST00000269318.5_Missense_Mutation_p.Q106H|CCDC40_ENST00000374877.3_Missense_Mutation_p.Q106H|CCDC40_ENST00000374876.4_Missense_Mutation_p.Q106H NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 106 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CGGAAGGGCAAATCAGTGCTG 0.522000 13 92 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104905008 104905008 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:104905008C>A ENST00000533400.1 - 2 236 c.201G>T c.(199-201)caG>caT p.Q67H CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.Q67H|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.Q28H|CASP1_ENST00000593315.1_Missense_Mutation_p.Q67H|CASP1_ENST00000527979.1_Missense_Mutation_p.Q51H|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.Q67H|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.Q67H|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.Q67H NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 67 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TTTGGCATGCCTGTGCCCCTT 0.458000 42 228 1.67305e-13 2.33327e-13 1 1 0 YLPM1 56252 broad.mit.edu 37 14 75265281 75265281 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:75265281C>G ENST00000325680.7 + 5 3405 c.3281C>G c.(3280-3282)cCa>cGa p.P1094R YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.P899R NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 899 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAGAAAGTGCCAGGTGGTCTT 0.592000 23 52 0 0 1 0 0 PAQR7 164091 broad.mit.edu 37 1 26189412 26189412 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:26189412G>C ENST00000374296.3 - 2 1585 c.919C>G c.(919-921)Ctg>Gtg p.L307V RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 307 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) TGCGTGTGCAGAGGCTCATAG 0.597000 17 83 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C G rs121912654 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:7578461C>G ENST00000420246.2 - 5 601 c.469G>C c.(469-471)Gtc>Ctc p.V157L TP53_ENST00000455263.2_Missense_Mutation_p.V157L|TP53_ENST00000445888.2_Missense_Mutation_p.V157L|TP53_ENST00000269305.4_Missense_Mutation_p.V157L|TP53_ENST00000413465.2_Missense_Mutation_p.V157L|TP53_ENST00000359597.4_Missense_Mutation_p.V157L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 157 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGCGCGGACGCGGGTGCCG 0.617000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 51 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6709382 6709382 + Splice_Site SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:6709382C>T ENST00000309577.6 - 9 1406 c.e9+1 CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 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 CAGACACTCACGCAGTGTGGG 0.582000 11 130 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40430489 40430489 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:40430489C>T ENST00000221347.6 - 3 1461 c.1454G>A c.(1453-1455)gGc>gAc p.G485D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 485 VWFD 1. 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) GTAGCGACGGCCGTCGAAGGT 0.677000 8 11 0 0 1 0 0 C11orf40 143501 broad.mit.edu 37 11 4594654 4594654 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:4594654C>T ENST00000307616.1 - 2 189 c.190G>A c.(190-192)Gat>Aat p.D64N NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 64 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) ACATCCTTATCTAAGTTAAAG 0.428000 10 48 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112706 248112706 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:248112706A>T ENST00000357191.3 + 1 547 c.547A>T c.(547-549)Atg>Ttg p.M183L OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 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) TGTCCCAGCAATGGTGACTCT 0.468000 16 115 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51618136 51618136 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:51618136G>A ENST00000371117.3 - 57 9088 c.8813C>T c.(8812-8814)aCg>aTg p.T2938M PKHD1_ENST00000340994.4_Missense_Mutation_p.T2938M NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2938 T -> M. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCCATCCTCCGTGACATGTAC 0.458000 27 87 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903908 129903908 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:129903908G>C ENST00000368654.3 - 13 6571 c.6196C>G c.(6196-6198)Cct>Gct p.P2066A MKI67_ENST00000368653.3_Missense_Mutation_p.P1706A NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2066 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) TCTTCCTTAGGTGTTCTTGGC 0.493000 56 239 0 0 1 0 0 PDE7B 27115 broad.mit.edu 37 6 136512891 136512891 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:136512891A>T ENST00000308191.6 + 13 1569 c.1266A>T c.(1264-1266)agA>agT p.R422S RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 422 signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) GGCAGCACAGAAGCAGGGGCA 0.662000 7 18 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11249764 11249764 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:11249764C>T ENST00000376819.3 + 1 367 c.128C>T c.(127-129)gCc>gTc p.A43V MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 43 response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) CTCAAAGCGGCCAACTGCTGT 0.567000 13 66 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481983 43481983 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:43481983C>T ENST00000532038.1 - 4 848 c.713G>A c.(712-714)cGa>cAa p.R238Q ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R438Q|ARHGAP27_ENST00000442348.1_Intron|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R438Q|ARHGAP27_ENST00000528384.1_Intron|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R97Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R97Q Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 438 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CAGCTCCCATCGAACAGAGGA 0.592000 9 24 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200977976 200977976 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:200977976C>A ENST00000332129.2 - 3 684 c.368G>T c.(367-369)gGc>gTc p.G123V KIF21B_ENST00000461742.2_Missense_Mutation_p.G123V|KIF21B_ENST00000360529.5_Missense_Mutation_p.G123V|KIF21B_ENST00000422435.2_Missense_Mutation_p.G123V 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 123 Kinesin-motor. 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 CTCGGCAATGCCCCCAAAGAG 0.642000 45 95 5.48756e-27 8.32421e-27 1 1 0 CELF1 10658 broad.mit.edu 37 11 47498939 47498939 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:47498939C>A ENST00000395290.2 - 8 808 c.799G>T c.(799-801)Gct>Tct p.A267S CELF1_ENST00000361904.3_Missense_Mutation_p.A264S|CELF1_ENST00000358597.3_Missense_Mutation_p.A268S|CELF1_ENST00000395292.2_Missense_Mutation_p.A264S|CELF1_ENST00000310513.5_Missense_Mutation_p.A264S|CELF1_ENST00000532048.1_Missense_Mutation_p.A294S|CELF1_ENST00000531165.1_Missense_Mutation_p.A295S NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 268 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 GCTGCAGCAGCTAGTGCAGCC 0.483000 17 62 3.52763e-06 4.12603e-06 1 1 0 OR5M8 219484 broad.mit.edu 37 11 56258729 56258729 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:56258729C>A ENST00000327216.2 - 1 142 c.118G>T c.(118-120)Ggg>Tgg p.G40W NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CCAAGGTTCCCTGCCACCGTG 0.522000 24 113 2.21704e-12 3.01933e-12 1 1 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911417 135911417 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:135911417C>T ENST00000264158.8 + 19 2303 c.2260C>T c.(2260-2262)Ctc>Ttc p.L754F ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L754F|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L710F NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 754 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding p.L754F(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) GCAAAGGAGACTCTTTGATGA 0.423000 9 68 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399130 57399130 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:57399130G>T ENST00000543257.1 - 11 1840 c.1274C>A c.(1273-1275)aCa>aAa p.T425K C8B_ENST00000371237.4_Missense_Mutation_p.T477K|C8B_ENST00000535057.1_Missense_Mutation_p.T415K NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 477 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GGCAAAATCTGTGGCTGTCAC 0.448000 8 44 0.00307968 0.00324766 1 1 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385457 118385457 + RNA SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:118385457C>G ENST00000537242.1 + 0 231 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) ATTAAACCAGCTAATCACTGG 0.443000 7 29 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103009039 103009039 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:103009039A>G ENST00000262457.2 + 8 1233 c.1048A>G c.(1048-1050)Att>Gtt p.I350V INVS_ENST00000262456.2_Missense_Mutation_p.I350V|INVS_ENST00000541287.1_Missense_Mutation_p.I254V NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 350 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GGACATAGATATTAACATGGC 0.398000 38 83 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692776 23692776 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:23692776C>A ENST00000397312.2 - 7 1133 c.859G>T c.(859-861)Gca>Tca p.A287S ELAVL2_ENST00000380117.1_Missense_Mutation_p.A287S|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A317S|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A274S|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A287S NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 287 RRM 3. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CTCTCATCTGCGTCAGGAGCC 0.468000 34 64 9.04072e-19 1.32454e-18 1 1 0 CACNA1G 8913 broad.mit.edu 37 17 48696263 48696263 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:48696263G>T ENST00000352832.5 + 31 5945 c.5573G>T c.(5572-5574)tGg>tTg p.W1858L CACNA1G_ENST00000507609.1_Missense_Mutation_p.W1885L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.W1881L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.W1892L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.W1899L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.W1881L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.W1840L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.W1874L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.W1892L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.W1858L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.W1881L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.W1858L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.W1835L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.W1867L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.W1892L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.W1858L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.W1847L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.W1847L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.W1858L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.W1851L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.W1874L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.W1881L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.W1869L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.W1869L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.W1892L NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1892 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCCTTCCTCTGGCCTGGGGTC 0.692000 8 16 1.06961e-07 1.31665e-07 1 1 0 PPIL4 85313 broad.mit.edu 37 6 149833291 149833291 + Splice_Site SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:149833291C>G ENST00000253329.2 - 12 1259 c.1227_splice c.e12+1 p.Q409_splice PPIL4_ENST00000340881.2_Splice_Site_p.R42_splice NM_139126.3 NP_624311.1 Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 409 protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TTAGAGGTACCTGATTAGTAT 0.348000 14 82 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79033880 79033880 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:79033880G>T ENST00000446378.2 + 2 9323 c.9292G>T c.(9292-9294)Gtg>Ttg p.V3098L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3098 PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGTAAGTTCAGTGGAAAGTGC 0.383000 7 23 0.000157383 0.000172422 1 1 0 ANGEL1 23357 broad.mit.edu 37 14 77257685 77257685 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:77257685G>A ENST00000251089.2 - 8 1755 c.1643C>T c.(1642-1644)tCt>tTt p.S548F ANGEL1_ENST00000557179.1_Missense_Mutation_p.S113F NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 548 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CTCAAGGACAGACTCAGCCCA 0.498000 13 61 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197559881 197559881 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:197559881G>C ENST00000389175.4 + 14 1756 c.1621G>C c.(1621-1623)Ggg>Cgg p.G541R CCDC150_ENST00000272831.7_Missense_Mutation_p.G209R|CCDC150_ENST00000472405.2_3'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 541 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TGATTACCATGGGGTGGGTAT 0.388000 17 39 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50266451 50266451 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:50266451G>T ENST00000246801.3 - 1 136 c.54C>A c.(52-54)gcC>gcA p.A18A NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 18 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) GGGTGTCCCCGGCCTCATGGA 0.647000 40 96 6.2361e-21 9.27421e-21 1 1 0 PITPNM1 9600 broad.mit.edu 37 11 67261793 67261793 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:67261793C>T ENST00000356404.3 - 19 3006 c.2781G>A c.(2779-2781)gtG>gtA p.V927V PITPNM1_ENST00000534749.1_Silent_p.V927V|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.V926V NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 927 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGCCCTCGCACACCACCGTGT 0.672000 11 53 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11718921 11718921 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:11718921G>T ENST00000376770.1 + 6 1115 c.617G>T c.(616-618)tGg>tTg p.W206L FBXO44_ENST00000376760.1_Silent_p.V164V|FBXO44_ENST00000251546.4_Silent_p.V164V|FBXO44_ENST00000376762.4_Silent_p.V164V|FBXO44_ENST00000376768.1_Silent_p.V196V|FBXO44_ENST00000251547.5_Missense_Mutation_p.W206L NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 206 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GATGCCAAGTGGAGGGAGGTG 0.657000 12 50 7.03913e-09 8.99039e-09 1 1 0 FOXP2 93986 broad.mit.edu 37 7 114302195 114302195 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:114302195G>T ENST00000408937.3 + 15 2172 c.1798G>T c.(1798-1800)Gtg>Ttg p.V600L FOXP2_ENST00000393498.2_Missense_Mutation_p.V554L|FOXP2_ENST00000393494.2_Missense_Mutation_p.V575L|FOXP2_ENST00000393489.3_Missense_Mutation_p.V483L|FOXP2_ENST00000403559.4_Missense_Mutation_p.V592L|FOXP2_ENST00000350908.4_Missense_Mutation_p.V575L|FOXP2_ENST00000393491.3_Missense_Mutation_p.V390L|FOXP2_ENST00000393500.3_3'UTR NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 575 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 AGTATGGACTGTGGATGAAGT 0.388000 7 51 0.000274275 0.000299485 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70965068 70965068 + Splice_Site SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:70965068A>T ENST00000334414.6 - 13 3152 c.3106_splice c.e13-1 p.I1036_splice PTPRB_ENST00000551525.1_Splice_Site_p.I1035_splice|PTPRB_ENST00000451516.2_Splice_Site_p.I728_splice|PTPRB_ENST00000550857.1_Splice_Site_p.I728_splice|PTPRB_ENST00000538708.1_Splice_Site_p.I818_splice|PTPRB_ENST00000550358.1_Splice_Site_p.I948_splice|PTPRB_ENST00000261266.5_Splice_Site_p.I818_splice NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 818 Fibronectin type-III 12. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CAGGCTCTGGAACTAGGGAGA 0.428000 5 18 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367227 234367227 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:234367227C>T ENST00000366618.3 + 3 493 c.348C>T c.(346-348)gcC>gcT p.A116A SLC35F3_ENST00000366617.3_Silent_p.A47A NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 47 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GGGTGGAGGCCGGCGGGAGAG 0.741000 7 74 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156349143 156349143 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:156349143G>T ENST00000274532.2 - 7 1035 c.979C>A c.(979-981)Ctc>Atc p.L327I TIMD4_ENST00000406964.1_Missense_Mutation_p.L29I|TIMD4_ENST00000407087.3_Missense_Mutation_p.L299I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 327 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AATGCGAAGAGCACAAATCCC 0.527000 11 21 4.68919e-08 5.86e-08 1 1 0 CNTN3 5067 broad.mit.edu 37 3 74411128 74411128 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:74411128A>T ENST00000263665.6 - 10 1304 c.1277T>A c.(1276-1278)cTg>cAg p.L426Q NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 426 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CAAGCTGACCAGGCTGCCCAC 0.498000 13 63 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111408179 111408179 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:111408179G>A ENST00000535254.1 - 17 2154 c.2087C>T c.(2086-2088)gCt>gTt p.A696V BUB1_ENST00000409311.1_Missense_Mutation_p.A716V|BUB1_ENST00000302759.6_Missense_Mutation_p.A716V NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 716 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TTGGAGCCCAGCAATAGCATC 0.517000 15 40 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50474938 50474938 + RNA SNP C C G rs138936320 by1000genomes TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:50474938C>G ENST00000602139.1 + 0 1013 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCCAGAGAACCTGAGAGTGAT 0.592000 7 92 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34302144 34302144 + Silent SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:34302144T>A ENST00000361162.6 - 11 1443 c.1059A>T c.(1057-1059)acA>acT p.T353T RBM39_ENST00000407261.4_Silent_p.T196T|RBM39_ENST00000253363.6_Silent_p.T353T|RBM39_ENST00000528062.3_Silent_p.T331T NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 353 Activating domain (By similarity).|Interaction with JUN (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) GACGACCAGTTGTTCCCAAAT 0.408000 10 93 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72017265 72017265 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:72017265G>A ENST00000378743.3 - 24 4977 c.4619C>T c.(4618-4620)tCa>tTa p.S1540L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1540 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATAAAATTTTGAAGGGAGAAT 0.348000 9 85 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95683825 95683825 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:95683825G>A ENST00000433389.2 + 11 1568 c.1378G>A c.(1378-1380)Gac>Aac p.D460N ESRP1_ENST00000358397.5_Missense_Mutation_p.D460N|ESRP1_ENST00000423620.2_Missense_Mutation_p.D460N|ESRP1_ENST00000454170.2_Missense_Mutation_p.D460N NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 460 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 CACAATTGAGGACATCCTGGA 0.463000 7 39 0 0 1 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593559 45593559 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:45593559C>T ENST00000270257.4 + 3 434 c.187C>T c.(187-189)Cgg>Tgg p.R63W GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 63 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AGCCGCCCTTCGGGAGCGTTA 0.632000 12 67 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477718 6477718 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:6477718G>C ENST00000525074.1 - 6 1632 c.1238C>G c.(1237-1239)cCc>cGc p.P413R TRIM3_ENST00000359518.3_Missense_Mutation_p.P413R|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.P413R|TRIM3_ENST00000537602.1_Missense_Mutation_p.P335R|TRIM3_ENST00000536344.1_Missense_Mutation_p.P294R NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 413 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACGCGGAAGGGGCTGCCGCG 0.677000 5 30 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42750505 42750505 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:42750505C>T ENST00000310232.6 - 16 2198 c.2115G>A c.(2113-2115)caG>caA p.Q705Q NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 705 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GCCGCAGGGCCTGCAGGAAGA 0.592000 20 111 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88042330 88042330 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:88042330C>A ENST00000227266.5 - 4 756 c.e4+1 NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TGCTTGATTACCTTGGGATTT 0.408000 6 45 0.0215528 0.0220675 1 1 0 COL1A1 1277 broad.mit.edu 37 17 48270371 48270371 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:48270371C>A ENST00000225964.5 - 26 1923 c.1805G>T c.(1804-1806)gGa>gTa p.G602V NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 602 Triple-helical region. G -> R (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCCAGGGGGTCCGGGAACACC 0.632000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 6 34 0.00307968 0.00324766 1 1 0 EMR1 2015 broad.mit.edu 37 19 6901981 6901981 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:6901981G>C ENST00000312053.4 + 6 647 c.610G>C c.(610-612)Gaa>Caa p.E204Q EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.E152Q|EMR1_ENST00000250572.8_Missense_Mutation_p.E204Q NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 204 EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity p.E204K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CCCAGGATTTGAATCCAGCAG 0.473000 47 169 0 0 1 0 0 PYDC1 260434 broad.mit.edu 37 16 31228130 31228130 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:31228130G>A ENST00000302964.3 - 1 550 c.220C>T c.(220-222)Cgc>Tgc p.R74C TRIM72_ENST00000322122.3_Intron NM_152901.2 NP_690865.1 Q8WXC3 PYDC1_HUMAN PYD (pyrin domain) containing 1 74 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding p.R74C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CGCATGTCGCGCAGCACGGCC 0.677000 19 49 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40432481 40432481 + Splice_Site SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:40432481A>G ENST00000372809.5 + 8 987 c.e8-1 MFSD2A_ENST00000372811.5_Splice_Site|MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000420632.2_Splice_Site NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TCTGGCCCCCAGAACCCTATG 0.592000 17 170 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71739768 71739768 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:71739768C>A ENST00000318442.5 - 5 2540 c.2050G>T c.(2050-2052)Ggg>Tgg p.G684W NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CCCTCTGCCCCAAGGTCACCC 0.602000 36 170 4.3181e-19 6.3547e-19 1 1 0 OR4K14 122740 broad.mit.edu 37 14 20482726 20482726 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:20482726C>A ENST00000305045.2 - 1 626 c.627G>T c.(625-627)ttG>ttT p.L209F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GAAAACAGCTCAAGGAAAGCA 0.507000 20 52 3.99206e-14 5.5991e-14 1 1 0 VSTM2A 222008 broad.mit.edu 37 7 54617721 54617721 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:54617721C>G ENST00000302287.3 + 4 898 c.492C>G c.(490-492)ccC>ccG p.P164P VSTM2A_ENST00000407838.3_Silent_p.P164P|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Silent_p.P163P|VSTM2A_ENST00000402613.3_Silent_p.P164P|VSTM2A_ENST00000404951.1_Silent_p.P164P Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 164 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) AAGCCTCGCCCATGTGGCTGC 0.597000 4 24 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45645307 45645307 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:45645307A>T ENST00000303230.4 - 2 886 c.829T>A c.(829-831)Tac>Aac p.Y277N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 277 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGATGTATGTATCTAATTAAC 0.338000 7 48 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38184332 38184332 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:38184332C>A ENST00000373048.4 - 16 2912 c.e16+1 EPHA10_ENST00000540011.1_Splice_Site|EPHA10_ENST00000427468.2_Splice_Site|EPHA10_ENST00000330210.7_Splice_Site|EPHA10_ENST00000446149.2_Splice_Site NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTTGGACTCACTGGGCAGTCA 0.672000 18 46 5.3912e-06 6.2538e-06 1 1 0 USP9Y 8287 broad.mit.edu 37 Y 14851540 14851540 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrY:14851540G>T ENST00000338981.3 + 12 2344 c.1399G>T c.(1399-1401)Gat>Tat p.D467Y USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 467 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGGACAACTTGATCATCTTTT 0.333000 14 21 6.31663e-08 7.82436e-08 1 1 0 PFKFB3 5209 broad.mit.edu 37 10 6263607 6263607 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:6263607G>T ENST00000379775.4 + 10 1312 c.982G>T c.(982-984)Gtc>Ttc p.V328F PFKFB3_ENST00000540253.1_Missense_Mutation_p.V342F|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379789.4_Missense_Mutation_p.V308F|PFKFB3_ENST00000379785.1_Missense_Mutation_p.V328F|PFKFB3_ENST00000360521.2_Missense_Mutation_p.V328F|PFKFB3_ENST00000317350.4_Missense_Mutation_p.V328F|PFKFB3_ENST00000379782.3_Missense_Mutation_p.V328F NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 328 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CCCGCAGGGCGTCTGTGAGGA 0.642000 3 12 0.004672 0.00490585 1 1 0 LCN1 3933 broad.mit.edu 37 9 138415126 138415126 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:138415126C>G ENST00000263598.2 + 3 330 c.270C>G c.(268-270)gaC>gaG p.D90E LCN1_ENST00000371781.3_Missense_Mutation_p.D90E NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 90 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGAAAACTGACGAGCCGGGAA 0.647000 4 21 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174565 51174565 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:51174565C>T ENST00000440970.1 - 2 1708 c.1277G>A c.(1276-1278)aGt>aAt p.S426N SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S523N|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 523 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GATGCCAGTACTCGTGGGGAT 0.522000 12 96 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100897278 100897278 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:100897278C>A ENST00000369208.3 - 6 1286 c.504G>T c.(502-504)ttG>ttT p.L168F SIM1_ENST00000262901.4_Missense_Mutation_p.L168F P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 168 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TACGCTTGGCCAAGACGCACT 0.627000 5 35 0.00116845 0.00124685 1 1 0 IGF1R 3480 broad.mit.edu 37 15 99251008 99251008 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:99251008G>T ENST00000268035.6 + 2 923 c.312G>T c.(310-312)acG>acT p.T104T IGF1R_ENST00000558762.1_Silent_p.T104T NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 104 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CCAACCTCACGGTCATCCGCG 0.547000 9 43 3.09899e-07 3.74461e-07 1 1 0 ATP4A 495 broad.mit.edu 37 19 36053346 36053346 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:36053346G>T ENST00000262623.3 - 4 439 c.411C>A c.(409-411)acC>acA p.T137T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 137 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CATTGTCGTCGGTGGTGAGGT 0.637000 13 30 1.5842e-08 2.01032e-08 1 1 0 HAUS1 115106 broad.mit.edu 37 18 43708088 43708088 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:43708088G>C ENST00000282058.6 + 9 914 c.834G>C c.(832-834)ctG>ctC p.L278L HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_3'UTR NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 278 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 TGATGGAACTGTGACAAAAGC 0.343000 9 26 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 6 89 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112362320 112362320 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:112362320G>T ENST00000361804.4 + 26 3320 c.3194G>T c.(3193-3195)aGt>aTt p.S1065I NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 1065 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GTGGAGGGCAGTCAGTCTCAA 0.448000 7 39 0.00307968 0.00324766 1 1 0 TAS2R42 353164 broad.mit.edu 37 12 11339199 11339199 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:11339199G>T ENST00000334266.1 - 1 344 c.345C>A c.(343-345)ccC>ccA p.P115P NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 115 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) AAAGGGAGTGGGGGAAGTGGG 0.408000 14 39 1.49906e-05 1.70875e-05 1 1 0 STAG1 10274 broad.mit.edu 37 3 136141254 136141254 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:136141254C>G ENST00000383202.2 - 19 2291 c.2035G>C c.(2035-2037)Gag>Cag p.E679Q STAG1_ENST00000536929.1_Missense_Mutation_p.E263Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E453Q|STAG1_ENST00000236698.5_Missense_Mutation_p.E679Q NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 679 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GAACAGACCTCTTGCAATAGG 0.328000 11 61 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413499 178413499 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:178413499C>T ENST00000231188.5 - 8 1934 c.1756G>A c.(1756-1758)Gca>Aca p.A586T GRM6_ENST00000517717.1_Missense_Mutation_p.A586T|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 586 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGCGGGGCTGCCCAGGGGGAG 0.701000 6 30 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21327635 21327635 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:21327635C>G ENST00000256958.2 + 4 447 c.351C>G c.(349-351)ttC>ttG p.F117L NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 117 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.F117F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CACATTTCTTCATGGGATAGT 0.338000 12 20 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134073619 134073619 + Silent SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:134073619G>C ENST00000534548.2 - 11 1462 c.1398C>G c.(1396-1398)tcC>tcG p.S466S NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 466 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding 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) GTGCAAAGCTGGACAGTGCCT 0.483000 8 67 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156910149 156910149 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:156910149T>C ENST00000368194.3 - 36 4622 c.3583A>G c.(3583-3585)Agt>Ggt p.S1195G ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S571G|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1155G NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1155 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCTCTGCACTGCCCTCCTGC 0.587000 10 64 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78256541 78256541 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:78256541G>A ENST00000354212.4 - 3 686 c.433C>T c.(433-435)Cat>Tat p.H145Y MAGI2_ENST00000536571.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.H145Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.H145Y|MAGI2_ENST00000535697.1_5'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 145 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCCTCCTTATGTGGCCTTGTG 0.378000 6 39 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48602914 48602914 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:48602914T>C ENST00000328333.8 - 115 8563 c.8456A>G c.(8455-8457)tAt>tGt p.Y2819C COL7A1_ENST00000454817.1_Missense_Mutation_p.Y2787C NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2819 Nonhelical region (NC2). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTCTGCAGCATAACTAGGGAG 0.642000 8 20 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53911497 53911497 + Nonsense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:53911497T>A ENST00000396408.3 + 4 806 c.689T>A c.(688-690)tTa>tAa p.L230* ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) AGCTCACTCTTAAGGAAACAT 0.368000 27 46 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338250 13338250 + RNA SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:13338250G>A ENST00000602906.1 + 0 268 kidney(3)|lung(1) 4 TAATGCTTCTGATGCCTTGGA 0.423000 11 50 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209267 55209267 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:55209267C>A ENST00000201031.2 + 5 1108 c.865C>A c.(865-867)Ctt>Att p.L289I TFAP2C_ENST00000544508.1_Missense_Mutation_p.L120I NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 289 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) TGGGTTGAATCTTCCGGCCGG 0.453000 15 102 3.27435e-08 4.10752e-08 1 1 0 CFAP221 200373 broad.mit.edu 37 2 120383232 120383232 + Missense_Mutation SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:120383232A>C ENST00000602047.1 + 16 1738 c.626A>C c.(625-627)aAg>aCg p.K209T PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000413369.3_Missense_Mutation_p.K495T Q4G0U5 PCDP1_HUMAN 495 cilium calmodulin binding Colorectal(110;0.196) ATACTGAGAAAGATTGGCCAA 0.428000 12 31 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32673465 32673465 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:32673465C>A ENST00000537469.1 + 5 1470 c.1423C>A c.(1423-1425)Ctc>Atc p.L475I IQCC_ENST00000291358.6_Missense_Mutation_p.L395I NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 395 p.L395I(1) endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCATAGTGTCCTCGATCTCTG 0.542000 7 111 0.248553 0.249311 1 1 0 CD160 11126 broad.mit.edu 37 1 145698987 145698987 + Nonsense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:145698987C>T ENST00000369290.1 - 3 334 c.177G>A c.(175-177)tgG>tgA p.W59* CD160_ENST00000369288.2_Nonsense_Mutation_p.W168*|CD160_ENST00000401557.3_Nonsense_Mutation_p.W168*|CD160_ENST00000235933.6_Nonsense_Mutation_p.W168* O95971 BY55_HUMAN CD160 molecule 168 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) CCAGCATTACCCAGACCTTTT 0.483000 9 81 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111019952 111019952 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:111019952G>A ENST00000262839.2 - 11 3429 c.2511C>T c.(2509-2511)ttC>ttT p.F837F NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 837 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAGGACCCATGAAGGAGCGTT 0.458000 29 106 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25475907 25475907 + RNA SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:25475907T>A ENST00000453082.2 + 0 1502 NR_003343.1 CAGCCCTTCCTGGCGCCCTGG 0.602000 16 101 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51298336 51298336 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:51298336T>C ENST00000270593.1 + 11 1202 c.1202T>C c.(1201-1203)gTg>gCg p.V401A ACPT_ENST00000270594.3_Missense_Mutation_p.V308A NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 401 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCTGTAGCTGTGCTGGTGGCA 0.687000 4 18 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42990719 42990719 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:42990719G>T ENST00000253408.5 - 4 763 c.698C>A c.(697-699)gCa>gAa p.A233E GFAP_ENST00000435360.2_Missense_Mutation_p.A233E|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A233E NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 233 Coil 2A.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TTTCAGGGCTGCGGTGAGGTC 0.617000 14 104 6.72482e-11 8.94828e-11 1 1 0 POFUT1 23509 broad.mit.edu 37 20 30804481 30804481 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:30804481G>T ENST00000375749.3 + 4 561 c.499G>T c.(499-501)Ggc>Tgc p.G167C POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.G167C|POFUT1_ENST00000539210.1_Intron NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 167 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCTTTTTACAGGCATTTCCTT 0.507000 10 78 0.010729 0.0111356 1 1 0 KRT25 147183 broad.mit.edu 37 17 38907313 38907313 + Nonsense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:38907313G>A ENST00000312150.4 - 5 910 c.850C>T c.(850-852)Cag>Tag p.Q284* NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 284 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TCAGAGATCTGCTGCTGCAGG 0.483000 16 97 0 0 1 0 0 FAN1 22909 broad.mit.edu 37 15 31212784 31212784 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:31212784C>T ENST00000362065.4 + 7 2271 c.1980C>T c.(1978-1980)ttC>ttT p.F660F NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 660 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TGCGGTGTTTCACTGTTGGGT 0.393000 Direct reversal of damage 16 44 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12059766 12059766 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:12059766A>G ENST00000482090.1 + 3 1291 c.873A>G c.(871-873)aaA>aaG p.K291K ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Silent_p.K309K|ZNF763_ENST00000591944.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 ATCAATGCAAAGAATGTGGAA 0.393000 28 40 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108403079 108403079 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:108403079G>T ENST00000361582.3 + 27 3130 c.2900G>T c.(2899-2901)gGa>gTa p.G967V DZIP3_ENST00000463306.1_Missense_Mutation_p.G967V NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 967 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CAGTTCTTAGGAAGACCTCTT 0.378000 23 200 9.95505e-16 1.4205e-15 1 1 0 ZNF91 7644 broad.mit.edu 37 19 23544936 23544936 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:23544936G>C ENST00000300619.7 - 4 1050 c.845C>G c.(844-846)aCt>aGt p.T282S ZNF91_ENST00000397082.2_Missense_Mutation_p.T250S|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 282 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTTATGTCTAGTTAGGGTTGA 0.383000 7 81 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943075 11943075 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:11943075C>G ENST00000304060.5 + 4 1248 c.1084C>G c.(1084-1086)Cac>Gac p.H362D NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGAAAAAATTCACAGTGGAGA 0.388000 8 65 0 0 1 0 0 SLC1A1 6505 broad.mit.edu 37 9 4583043 4583043 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:4583043C>T ENST00000262352.3 + 11 1435 c.1199C>T c.(1198-1200)aCg>aTg p.T400M NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 400 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) TGCAGTATCACGGCCACATCT 0.592000 23 51 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303771 45303771 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:45303771T>A ENST00000303230.4 - 6 1605 c.1548A>T c.(1546-1548)caA>caT p.Q516H NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 516 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CAACACCGTGTTGAATGAAAT 0.388000 75 79 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37343158 37343158 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:37343158C>G ENST00000394303.3 - 5 646 c.439G>C c.(439-441)Ggg>Cgg p.G147R CACNB1_ENST00000394310.3_Missense_Mutation_p.G147R|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.G147R NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 147 SH3. axon guidance voltage-gated calcium channel complex p.G147R(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) ACCAGCCGCCCGATCCACCAG 0.562000 10 52 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111321917 111321917 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:111321917C>A ENST00000308208.5 + 8 1179 c.937C>A c.(937-939)Ctg>Atg p.L313M CCDC63_ENST00000552694.1_Missense_Mutation_p.L234M|CCDC63_ENST00000545036.1_Missense_Mutation_p.L273M NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 313 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GCTGCTGAAGCTGGCTGAGAG 0.493000 16 98 6.72482e-11 8.94828e-11 1 1 0 UGT2A3 79799 broad.mit.edu 37 4 69796263 69796263 + Splice_Site SNP C C A rs146748259 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:69796263C>A ENST00000251566.4 - 5 1335 c.e5+1 UGT2A3_ENST00000420231.2_Splice_Site NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTAGTACTTACGAGGAATCGG 0.373000 16 119 3.45872e-05 3.91089e-05 1 1 0 OR10H1 26539 broad.mit.edu 37 19 15918389 15918389 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:15918389C>G ENST00000334920.2 - 1 547 c.459G>C c.(457-459)ttG>ttC p.L153F NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L153F(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TCCCCATGACCAAGCCACCAG 0.622000 34 69 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017802 32017802 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:32017802C>A ENST00000375244.3 - 27 9613 c.9412G>T c.(9412-9414)Ggc>Tgc p.G3138C TNXB_ENST00000375247.2_Missense_Mutation_p.G3136C P22105 TENX_HUMAN tenascin XB 3183 Fibronectin type-III 23. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GACACAGGGCCTACGCGCTGG 0.627000 22 64 6.44725e-10 8.39761e-10 1 1 0 RYR2 6262 broad.mit.edu 37 1 237711840 237711840 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:237711840G>A ENST00000366574.2 + 26 3333 c.3016G>A c.(3016-3018)Gtg>Atg p.V1006M RYR2_ENST00000542537.1_Missense_Mutation_p.V990M|RYR2_ENST00000360064.6_Missense_Mutation_p.V1004M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1006 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCACATAATGTGTGGGCGCG 0.488000 19 33 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48764929 48764929 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:48764929G>A ENST00000285238.8 + 30 4393 c.4313G>A c.(4312-4314)cGa>cAa p.R1438Q NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1438 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGCCTGGCCCGAGCCCTGCTC 0.647000 11 71 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34006120 34006120 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:34006120A>T ENST00000297161.2 + 5 723 c.349A>T c.(349-351)Agc>Tgc p.S117C BMPER_ENST00000426693.1_Missense_Mutation_p.S117C NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 117 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TACCTATAACAGCTCCTTCAA 0.453000 13 44 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195594618 195594618 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:195594618G>A ENST00000333602.6 - 12 3123 c.2506C>T c.(2506-2508)Cct>Tct p.P836S TNK2_ENST00000428187.1_Missense_Mutation_p.P868S|TNK2_ENST00000392400.1_Missense_Mutation_p.P836S|TNK2_ENST00000381916.2_Missense_Mutation_p.P914S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 836 EBD domain (By similarity).|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CGCGGGCCAGGGGCCTGGATC 0.652000 16 20 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41496256 41496256 + Splice_Site SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:41496256C>T ENST00000400454.1 - 20 4040 c.e20-1 NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGACCTGGAACTGGAAGAGCC 0.597000 11 85 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51298183 51298183 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:51298183T>C ENST00000270593.1 + 10 1127 c.1127T>C c.(1126-1128)gTc>gCc p.V376A ACPT_ENST00000270594.3_Missense_Mutation_p.V283A NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 376 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GCCCATGGGGTCTCCTGCCAT 0.706000 24 109 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862555 14862555 + Silent SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr3:14862555G>A ENST00000285046.5 + 1 2087 c.1977G>A c.(1975-1977)ctG>ctA p.L659L FGD5_ENST00000543601.1_Silent_p.L418L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 659 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCCTGGCACTGACGTTTAAGA 0.507000 11 70 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088083 94088083 + Missense_Mutation SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr14:94088083C>T ENST00000553484.1 + 31 4724 c.4570C>T c.(4570-4572)Ctt>Ttt p.L1524F UNC79_ENST00000393151.2_Missense_Mutation_p.L1502F|UNC79_ENST00000555664.1_Missense_Mutation_p.L1502F|UNC79_ENST00000256339.4_Missense_Mutation_p.L1325F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1502 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 ACAAAAATCTCTTGATATAGG 0.433000 33 64 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028252 37028252 + Missense_Mutation SNP G G A rs139503125 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:37028252G>A ENST00000358047.3 + 1 1821 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 590 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCAAGACTCGGGTGTCCAGT 0.652000 52 51 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402675 248402675 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:248402675T>C ENST00000306687.1 + 1 445 c.445T>C c.(445-447)Tgg>Cgg p.W149R NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTTGCTTCCTGGACCTTGGG 0.468000 23 165 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175418 159175418 + Silent SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:159175418C>A ENST00000537147.1 + 3 1032 c.189C>A c.(187-189)ccC>ccA p.P63P DARC_ENST00000368121.2_Silent_p.P65P|DARC_ENST00000368122.2_Silent_p.P63P Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 63 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTGCACTGCCCTTCTTCATCC 0.562000 65 114 3.7469e-33 5.75458e-33 1 1 0 COLGALT2 23127 broad.mit.edu 37 1 183933060 183933060 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:183933060G>T ENST00000361927.4 - 6 1298 c.927C>A c.(925-927)ctC>ctA p.L309L COLGALT2_ENST00000367520.3_Silent_p.L46L|COLGALT2_ENST00000546159.1_Silent_p.L309L NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GCACATGGATGAGGTTCTCGA 0.552000 13 66 9.31168e-06 1.0751e-05 1 1 0 GLIS1 148979 broad.mit.edu 37 1 53974961 53974961 + Splice_Site SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:53974961C>A ENST00000312233.2 - 9 2104 c.e9-1 NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CCCTGGTAACCTGCAGACGGG 0.632000 3 9 6.4e-05 7.11589e-05 1 1 0 AKAP11 11215 broad.mit.edu 37 13 42876707 42876707 + Silent SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:42876707A>G ENST00000025301.2 + 8 4000 c.3825A>G c.(3823-3825)gcA>gcG p.A1275A NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1275 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAAAATAGCAAAAGTCCGAA 0.378000 35 49 0 0 1 0 0 CETN1 1068 broad.mit.edu 37 18 580861 580861 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:580861G>T ENST00000327228.3 + 1 495 c.453G>T c.(451-453)cgG>cgT p.R151R NM_004066.1 NP_004057.1 Q12798 CETN1_HUMAN centrin, EF-hand protein, 1 151 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 AAGCTGATCGGGATGGGGACG 0.542000 21 63 4.35082e-09 5.57131e-09 1 1 0 LRBA 987 broad.mit.edu 37 4 151246962 151246962 + Splice_Site SNP A A C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:151246962A>C ENST00000535741.1 - 49 7924 c.7452_splice c.e49+1 p.V2484_splice LRBA_ENST00000510413.1_Splice_Site_p.V2484_splice|LRBA_ENST00000357115.3_Splice_Site_p.V2495_splice|LRBA_ENST00000507224.1_Splice_Site_p.V2484_splice|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2495 BEACH. endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGCACTTACCACTTGCATGGC 0.448000 4 24 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047397 46047397 + Silent SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr21:46047397C>G ENST00000397911.3 + 1 358 c.309C>G c.(307-309)gtC>gtG p.V103V TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 103 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 gcgtgcccgtctgctgcaagc 0.662000 32 195 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39723904 39723904 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr17:39723904C>A ENST00000246662.4 - 7 1558 c.1493G>T c.(1492-1494)gGt>gTt p.G498V KRT9_ENST00000588431.1_Missense_Mutation_p.G265V NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 498 Tail. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) tcctcctccaccatagctgcc 0.577000 6 19 0.0215528 0.0220675 1 1 0 TTN 7273 broad.mit.edu 37 2 179458544 179458544 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:179458544C>G ENST00000589042.1 - 298 58707 c.58483G>C c.(58483-58485)Gat>Cat p.D19495H TTN_ENST00000342175.6_Missense_Mutation_p.D10622H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10555H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17854H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16927H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10430H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17854 Fibronectin type-III 41. D -> G. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D10555Y(1)|p.D16925Y(1)|p.D10430Y(1)|p.D10622Y(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCATGTAATCTTTGGTCACC 0.398000 5 41 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62211564 62211564 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:62211564C>G ENST00000261517.5 - 58 7635 c.7562G>C c.(7561-7563)aGt>aCt p.S2521T VPS13C_ENST00000395898.3_Missense_Mutation_p.S2478T|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2478T|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2521T NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2521 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GTCAGAATGACTGGCATTGGG 0.413000 22 116 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151511892 151511892 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:151511892C>A ENST00000535741.1 - 39 6639 c.6166G>T c.(6166-6168)Gat>Tat p.D2056Y LRBA_ENST00000510413.1_Missense_Mutation_p.D2056Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D2067Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D2056Y P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2067 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) TCTTTCTCATCCACGGATGAC 0.413000 12 60 2.68362e-12 3.64972e-12 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940810 22940810 + Nonsense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:22940810G>T ENST00000397104.3 - 5 1627 c.1628C>A c.(1627-1629)tCa>tAa p.S543* ZNF99_ENST00000596209.1_Nonsense_Mutation_p.S634* zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTAAGGGTTGAGGACTGGCT 0.383000 28 31 2.79863e-10 3.66948e-10 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85515611 85515611 + Nonsense_Mutation SNP C C T rs148400374 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:85515611C>T ENST00000393217.2 + 16 3575 c.3514C>T c.(3514-3516)Cga>Tga p.R1172* NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1172 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GTCTCAGATTCGAGAATTCAA 0.348000 5 54 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79396614 79396614 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:79396614G>T ENST00000264895.6 + 54 8145 c.7705G>T c.(7705-7707)Ggg>Tgg p.G2569W NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2568 Calx-beta 1. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGAGAAGGCAGGGTCTGTCAG 0.507000 11 51 0.010729 0.0111356 1 1 0 PCDHB5 26167 broad.mit.edu 37 5 140515612 140515612 + Missense_Mutation SNP C C T rs61736695 byFrequency TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:140515612C>T ENST00000231134.5 + 1 813 c.596C>T c.(595-597)gCg>gTg p.A199V NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 199 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGACAAAGCGCTGGACCGG 0.557000 28 118 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32399178 32399178 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:32399178G>T ENST00000282587.5 + 3 174 c.137G>T c.(136-138)gGc>gTc p.G46V SLC30A6_ENST00000379343.2_Missense_Mutation_p.G46V|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.G17V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.G46V NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 46 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATATGTACTGGCTTCCTGCTT 0.328000 27 58 2.79863e-10 3.66948e-10 1 1 0 NFIL3 4783 broad.mit.edu 37 9 94172474 94172474 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:94172474G>T ENST00000297689.3 - 2 937 c.543C>A c.(541-543)caC>caA p.H181Q NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 181 Ser-rich. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTGTGGAGAGTGTTTAATGA 0.458000 26 48 8.24728e-16 1.17852e-15 1 1 0 SCAND3 114821 broad.mit.edu 37 6 28540909 28540909 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:28540909C>T ENST00000452236.2 - 4 3374 c.2757G>A c.(2755-2757)gtG>gtA p.V919V NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 919 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 gttcaaacctcacatagacta 0.318000 16 35 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803307 27803307 + Missense_Mutation SNP A A G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:27803307A>G ENST00000408964.2 + 1 3919 c.3868A>G c.(3868-3870)Atg>Gtg p.M1290V NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1290 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AAAATATCCAATGAAGAGAAT 0.403000 15 87 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92433764 92433764 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:92433764C>G ENST00000370389.2 + 4 1097 c.173C>G c.(172-174)tCt>tGt p.S58C BRDT_ENST00000399546.2_Missense_Mutation_p.S131C|BRDT_ENST00000394530.3_Missense_Mutation_p.S85C|BRDT_ENST00000402388.1_Missense_Mutation_p.S131C|BRDT_ENST00000362005.3_Missense_Mutation_p.S131C NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 131 Bromo 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CAGAAATTATCTCAGATGCCA 0.373000 23 31 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523184 92523184 + Missense_Mutation SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:92523184G>C ENST00000298047.6 + 7 4428 c.4411G>C c.(4411-4413)Gag>Cag p.E1471Q FAT3_ENST00000409404.2_Missense_Mutation_p.E1471Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E1321Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1471 Cadherin 14. 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) GACAATTTCCGAGGATGTGCT 0.423000 TCGA Ovarian(4;0.039) 18 130 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139483 3139483 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr16:3139483C>A ENST00000252463.2 - 5 1874 c.1787G>T c.(1786-1788)cGc>cTc p.R596L ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R514L|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R257L NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 596 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GCGCTGGTGGCGCGCCAGGTG 0.711000 5 40 0.000602214 0.000652509 1 1 0 BLZF1 8548 broad.mit.edu 37 1 169347741 169347741 + Silent SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:169347741A>T ENST00000367808.3 + 4 1065 c.642A>T c.(640-642)gtA>gtT p.V214V BLZF1_ENST00000329281.2_Silent_p.V214V Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 214 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) AGTGTGATGTATGGCGAAGTA 0.373000 14 133 0 0 1 0 0 USP14 9097 broad.mit.edu 37 18 210491 210491 + Missense_Mutation SNP A A T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:210491A>T ENST00000261601.6 + 15 1422 c.1331A>T c.(1330-1332)cAa>cTa p.Q444L USP14_ENST00000582707.1_Missense_Mutation_p.Q409L|USP14_ENST00000383589.2_Missense_Mutation_p.Q398L|USP14_ENST00000400266.3_Missense_Mutation_p.Q433L NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 444 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) AAAAGGAAACAAGGTAAAGGG 0.338000 11 60 0 0 1 0 0 WDR18 57418 broad.mit.edu 37 19 992088 992088 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:992088G>T ENST00000251289.5 + 8 1088 c.1065G>T c.(1063-1065)ggG>ggT p.G355G WDR18_ENST00000587001.2_Silent_p.G355G NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 355 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCGCCACGGGGGCCTCACTC 0.716000 3 8 0.150653 0.151731 1 1 0 CALN1 83698 broad.mit.edu 37 7 71571179 71571179 + Silent SNP G G A rs139754746 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:71571179G>A ENST00000395275.2 - 4 733 c.345C>T c.(343-345)agC>agT p.S115S CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000329008.5_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 73 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) GCTCCACCTCGCTTGGCATGT 0.592000 18 40 0 0 1 0 0 CD84 8832 broad.mit.edu 37 1 160520761 160520761 + Silent SNP C C T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:160520761C>T ENST00000368054.3 - 5 860 c.825G>A c.(823-825)gaG>gaA p.E275E CD84_ENST00000534968.1_Silent_p.E161E|CD84_ENST00000311224.4_Silent_p.E292E|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Silent_p.E286E|RP11-528G1.2_ENST00000446952.1_RNA NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 292 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGATTCTGGACTCTGCTGGCT 0.473000 29 229 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139751466 139751466 + Missense_Mutation SNP T T G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr9:139751466T>G ENST00000445819.1 + 18 2232 c.2182T>G c.(2182-2184)Tgg>Ggg p.W728G MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.W649G Q6UXC1 AEGP_HUMAN MAM domain containing 4 728 MAM 4. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCTCAGCTTCTGGTACCACCT 0.677000 5 34 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78428501 78428501 + Missense_Mutation SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr1:78428501G>A ENST00000370767.1 - 14 1385 c.1298C>T c.(1297-1299)cCa>cTa p.P433L FUBP1_ENST00000370768.2_Missense_Mutation_p.P433L|FUBP1_ENST00000436586.2_Missense_Mutation_p.P454L Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 433 KH 4. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 TATCTGTTGTGGAGTGCCACG 0.368000 """F, N""" oligodendroglioma 16 151 0 0 1 0 0 C4orf3 401152 broad.mit.edu 37 4 120221657 120221657 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:120221657C>A ENST00000399075.4 - 2 432 c.433G>T c.(433-435)Gat>Tat p.D145Y C4orf3_ENST00000504110.1_Missense_Mutation_p.D12Y NM_001170330.1 NP_001163801.1 Q8WVX3 CD003_HUMAN chromosome 4 open reading frame 3 12 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 CGGAGACCATCTCGACCATCA 0.567000 17 92 4.96729e-08 6.19184e-08 1 1 0 C7 730 broad.mit.edu 37 5 40981624 40981624 + Silent SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr5:40981624G>T ENST00000313164.9 + 18 2840 c.2481G>T c.(2479-2481)ggG>ggT p.G827G NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 827 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GATGCAGAGGGCAGAGCATCT 0.582000 7 49 8.12818e-05 8.98474e-05 1 1 0 KCNH7 90134 broad.mit.edu 37 2 163693208 163693208 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:163693208C>A ENST00000332142.5 - 2 245 c.146G>T c.(145-147)tGt>tTt p.C49F KCNH7_ENST00000328032.4_Missense_Mutation_p.C49F NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 49 PAS. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGTCATCTCACAGAACCCATC 0.433000 16 59 4.14922e-12 5.63516e-12 1 1 0 ARHGEF4 50649 broad.mit.edu 37 2 131704106 131704106 + Missense_Mutation SNP T T C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:131704106T>C ENST00000409359.1 + 4 4091 c.2893T>C c.(2893-2895)Tct>Cct p.S965P ARHGEF4_ENST00000326016.5_Missense_Mutation_p.S109P|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.S109P|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.S109P|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S109P|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.S109P Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 109 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GATCATTACCTCTCCAGAGTC 0.517000 17 131 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44073420 44073420 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr2:44073420delG ENST00000272286.2 + 3 382 c.292delG c.(292-294)ggfs p.G98fs NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 98 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.G98W(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGTGAGAAGTGGGCAGATGCT 0.522 32 79 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90830461 90830461 + Frame_Shift_Del DEL C C - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr4:90830461delC ENST00000394980.1 + 3 977 c.658delC c.(658-660)ccfs p.P220fs MMRN1_ENST00000264790.2_Frame_Shift_Del_p.P220fs|MMRN1_ENST00000394981.1_Frame_Shift_Del_p.P186fs|MMRN1_ENST00000508372.1_5'UTR Q13201 MMRN1_HUMAN multimerin 1 220 EMI. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CAGGTTATCTCCCACAGTGAT 0.398 14 54 --- --- --- --- HTR1E 3354 broad.mit.edu 37 6 87725434 87725434 + Frame_Shift_Del DEL A A - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr6:87725434delA ENST00000305344.4 + 2 1085 c.382delA c.(382-384)ttfs p.I128fs HTR1E_ENST00000369584.1_Frame_Shift_Del_p.I128fs NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 128 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity 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) CACCAATGCTATTGAATACGC 0.567 17 108 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11633068 11633068 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr7:11633068delG ENST00000423059.3 - 3 1335 c.1084delC c.(1084-1086)agfs p.Q362fs NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 362 TSP type-1 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCGGAAACCTGGCACTCTTTG 0.498 HNSCC(18;0.044) 35 64 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3047596 3047596 + Frame_Shift_Del DEL C C - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:3047596delC ENST00000520002.1 - 35 5794 c.5239delG c.(5239-5241)agfs p.E1747fs CSMD1_ENST00000537824.1_Frame_Shift_Del_p.E1746fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.E1747fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.E1747fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.E1747fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.E1746fs|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.E1746fs Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1747 Sushi 10. 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) TATCTGGGCTCGGGGACAGAG 0.557 5 4 --- --- --- --- KCNV1 27012 broad.mit.edu 37 8 110980335 110980336 + Frame_Shift_Ins INS - - C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr8:110980335_110980336insC ENST00000524391.1 - 4 2516_2517 c.1484_1485insG c.(1483-1485)ggafs p.G495fs KCNV1_ENST00000297404.1_Frame_Shift_Ins_p.G495fs Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 495 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGAAATCATCTCCCCCGCTGCT 0.371 11 40 --- --- --- --- PRKCQ 5588 broad.mit.edu 37 10 6553114 6553114 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr10:6553114delG ENST00000263125.5 - 3 260 c.161delC c.(160-162)cafs p.P55fs PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Frame_Shift_Del_p.P55fs NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 55 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GTCCCAGGGTGGGTACATGGT 0.458 13 109 --- --- --- --- KIF18A 81930 broad.mit.edu 37 11 28119344 28119346 + In_Frame_Del DEL CTT CTT - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:28119344_28119346delCTT ENST00000263181.6 - 2 439_441 c.149_151delAAG c.(148-153)gtc>g p.EV50del NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 50 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 AAAAAACTGACTTCTTCTTGTTT 0.320 9 70 --- --- --- --- OR4X2 119764 broad.mit.edu 37 11 48266864 48266864 + Frame_Shift_Del DEL C C - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:48266864delC ENST00000302329.3 + 1 257 c.209delC c.(208-210)gcfs p.A70fs NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCCGCTACAGCCCCCAAACTC 0.512 17 128 --- --- --- --- PICALM 8301 broad.mit.edu 37 11 85712167 85712167 + Frame_Shift_Del DEL C C - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:85712167delC ENST00000526033.1 - 10 1244 c.928delG c.(928-930)cafs p.A310fs PICALM_ENST00000528398.1_Frame_Shift_Del_p.A259fs|PICALM_ENST00000393346.3_Frame_Shift_Del_p.A310fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.A310fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.A310fs NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 310 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CCAGTGCTTGCCAGGGAAGAC 0.428 T """MLLT10, MLL""" """TALL, AML, """ 23 109 --- --- --- --- CNTN5 53942 broad.mit.edu 37 11 100211204 100211204 + Frame_Shift_Del DEL T T - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:100211204delT ENST00000524871.1 + 22 3030 c.2740delT c.(2740-2742)ggfs p.W914fs CNTN5_ENST00000528682.1_Frame_Shift_Del_p.W914fs|CNTN5_ENST00000418526.2_Frame_Shift_Del_p.W840fs|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Frame_Shift_Del_p.W914fs NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 914 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGTTGGTTACTGGAAAGACAT 0.383 12 13 --- --- --- --- HTR3A 3359 broad.mit.edu 37 11 113856784 113856785 + Frame_Shift_Ins INS - - C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr11:113856784_113856785insC ENST00000504030.2 + 6 1037_1038 c.592_593insC c.(592-594)cgafs p.R198fs HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Frame_Shift_Ins_p.R204fs|HTR3A_ENST00000506841.2_Frame_Shift_Ins_p.R198fs|HTR3A_ENST00000299961.5_Frame_Shift_Ins_p.R183fs|HTR3A_ENST00000375498.2_Frame_Shift_Ins_p.R204fs P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 198 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) AAAGGTGAAATCCGACAGGAGT 0.505 88 211 --- --- --- --- CCDC91 55297 broad.mit.edu 37 12 28458733 28458734 + Frame_Shift_Ins INS - - T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr12:28458733_28458734insT ENST00000545336.1 + 7 680_681 c.261_262insT c.(259-264)aacacafs p.T88fs CCDC91_ENST00000381256.1_Frame_Shift_Ins_p.T88fs|CCDC91_ENST00000306172.5_Frame_Shift_Ins_p.T58fs|CCDC91_ENST00000381259.1_Frame_Shift_Ins_p.T88fs|CCDC91_ENST00000539107.1_Frame_Shift_Ins_p.T88fs|CCDC91_ENST00000540401.1_3'UTR Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 88 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) CTATTCCAAAAGCACAGGTAAA 0.332 32 110 --- --- --- --- LATS2 26524 broad.mit.edu 37 13 21562482 21562483 + In_Frame_Ins INS - - GGGGCG rs56252009 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr13:21562482_21562483insGGGGCG ENST00000382592.4 - 4 1841_1842 c.1436_1437insCGCCCC c.(1435-1437)cgc>cCGCCCCgc p.478_479insPP LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 478 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCTCCGCAgccggggcgggggc 0.787 2 4 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23285254 23285258 + RNA DEL TCCCT TCCCT - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:23285254_23285258delTCCCT ENST00000560464.1 - 0 5097 CTTTCTTCTCtcccttcccttccct 0.478 3 4 --- --- --- --- DISP2 85455 broad.mit.edu 37 15 40659416 40659421 + In_Frame_Del DEL TTCGGA TTCGGA - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:40659416_40659421delTTCGGA ENST00000267889.3 + 8 1190_1195 c.1103_1108delTTCGGA c.(1102-1110)ccc>c p.LRT368del NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 368 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CTGGCCCTGCTTCGGACCTGTGCCCT 0.641 29 165 --- --- --- --- EHD4 30844 broad.mit.edu 37 15 42193197 42193197 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr15:42193197delG ENST00000220325.4 - 6 1355 c.1272delC c.(1270-1272)ccfs p.P424fs NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 424 TEGPFNQGYGEGA -> PRAPSTRATGRVP (in Ref. 2). endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) CCTGGTTGAAGGGGCCCTCGG 0.652 10 49 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 2 4 --- --- --- --- LPHN1 22859 broad.mit.edu 37 19 14273672 14273685 + Frame_Shift_Del DEL AAGGCGTTGGATGC AAGGCGTTGGATGC - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:14273672_14273685delAAGGCGTTGGATGC ENST00000340736.6 - 6 1240_1253 c.943_956delGCATCCAACGCCTT c.(943-957)cfs p.ASNAF315fs LPHN1_ENST00000361434.3_Frame_Shift_Del_p.ASNAF310fs|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 315 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACACACCATGAAGGCGTTGGATGCCGAGCGCTTG 0.621 17 33 --- --- --- --- ZNF529 57711 broad.mit.edu 37 19 37038878 37038879 + Frame_Shift_Ins INS - - GT TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr19:37038878_37038879insGT ENST00000334116.7 - 6 876_877 c.266_267insAC c.(265-267)aggfs p.R89fs ZNF529_ENST00000591340.1_Frame_Shift_Ins_p.R194fs NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) TTTTTCCACCAGTATGTATTTT 0.361 25 29 --- --- --- --- ACTR5 79913 broad.mit.edu 37 20 37383728 37383728 + Frame_Shift_Del DEL T T - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chr20:37383728delT ENST00000243903.4 + 4 941 c.904delT c.(904-906)tgfs p.L302fs NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 302 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) GCAGCAGCAATTGCGGCGGCT 0.557 30 52 --- --- --- --- AMER1 139285 broad.mit.edu 37 X 63412445 63412445 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:63412445delG ENST00000330258.3 - 2 994 c.722delC c.(721-723)cafs p.P241fs AMER1_ENST00000374869.3_Frame_Shift_Del_p.P241fs|AMER1_ENST00000403336.1_Frame_Shift_Del_p.P241fs NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TTCTGGTGTTGGAGAAACTTT 0.537 52 81 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 4 4 --- --- --- --- UTP14A 10813 broad.mit.edu 37 X 129060248 129060248 + Frame_Shift_Del DEL G G - TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx c50986c8-b096-4ca6-9afe-ad02977329cb dc97ac53-1ebd-4ba6-a5ee-d39aabcd2b11 g.chrX:129060248delG ENST00000394422.3 + 14 2004 c.1976delG c.(1975-1977)aafs p.R659fs UTP14A_ENST00000371051.5_Frame_Shift_Del_p.R605fs|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.R491fs|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Frame_Shift_Del_p.R607fs NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 659 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 GGTCCTCCAAGAAAAGATAAG 0.458 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 57 --- --- --- ---