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 SREK1 140890 broad.mit.edu 37 5 65460690 65460690 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:65460690C>T ENST00000334121.6 + 7 1125 c.966C>T c.(964-966)tcC>tcT p.S322S SREK1_ENST00000380918.3_Silent_p.S206S|SREK1_ENST00000284041.3_3'UTR NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 206 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 GCTCAAAATCCCATTCTAGAA 0.338000 6 105 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560333 44560333 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:44560333C>T ENST00000332567.4 - 1 1655 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 435 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GACTGGCTTTCCTGGACAGGA 0.577000 24 116 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56216890 56216890 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:56216890G>A ENST00000435532.3 - 5 435 c.245C>T c.(244-246)cCt>cTt p.P82L NM_006154.2 NP_006145.2 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 1180 Ser-rich. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GTGCTGCTGAGGATGAACCTA 0.363000 4 10 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150793950 150793950 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150793950G>A ENST00000370357.4 + 8 822 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 193 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGTCAGTGATGAAGCTGTACT 0.318000 35 138 0 0 1 0 0 MANEAL 149175 broad.mit.edu 37 1 38265329 38265329 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:38265329C>T ENST00000373045.6 + 4 1209 c.828C>T c.(826-828)tcC>tcT p.S276S MANEAL_ENST00000525897.1_Silent_p.S82S|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.S54S NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 276 Golgi membrane|integral to membrane hydrolase activity endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACCTGACGTCCCCTGAGGCCT 0.572000 13 170 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577548 9577548 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9577548G>A ENST00000301480.4 - 10 2288 c.2075C>T c.(2074-2076)tCc>tTc p.S692F NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATTTCGAAAGGAATTTCCACA 0.378000 25 127 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126015 8126015 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:8126015C>T ENST00000223145.5 + 8 2048 c.1491C>T c.(1489-1491)ctC>ctT p.L497L NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 497 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTGAGCAGCTCTCATCCCGGG 0.567000 21 278 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012010 29012010 + Nonsense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29012010T>A ENST00000377175.1 - 1 1007 c.943A>T c.(943-945)Aag>Tag p.K315* NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CAATTCCTCTTTATTTTTGTA 0.328000 5 17 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76261002 76261002 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76261002C>T ENST00000529032.1 + 20 3781 c.3781C>T c.(3781-3783)Cct>Tct p.P1261S C11orf30_ENST00000533248.1_Missense_Mutation_p.P1170S|C11orf30_ENST00000524767.1_Missense_Mutation_p.P1276S|C11orf30_ENST00000525919.1_Missense_Mutation_p.P1262S|C11orf30_ENST00000524490.1_Missense_Mutation_p.P1163S|C11orf30_ENST00000334736.3_Missense_Mutation_p.P1261S|C11orf30_ENST00000525038.1_Missense_Mutation_p.P1262S|C11orf30_ENST00000343878.3_Missense_Mutation_p.P1094S Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1261 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CCAGGCTATTCCTCAGTATGC 0.413000 7 77 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17418547 17418547 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:17418547C>T ENST00000302539.4 - 33 4163 c.4038G>A c.(4036-4038)caG>caA p.Q1346Q ABCC8_ENST00000389817.3_Silent_p.Q1345Q NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1345 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGTTCTGGATCTGGATCTTCC 0.627000 14 83 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158817640 158817640 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158817640C>T ENST00000368141.4 + 6 1371 c.1110C>T c.(1108-1110)ttC>ttT p.F370F NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 370 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TTCGACTCTTCTGCCTTCAAC 0.428000 15 108 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35447092 35447092 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:35447092G>A ENST00000338863.7 - 5 559 c.330_splice c.e5-1 p.A111_splice TEAD3_ENST00000402886.3_Splice_Site_p.A51_splice NM_003214.3 NP_003205.2 Q99594 TEAD3_HUMAN TEA domain family member 3 111 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 CAGGTTCATGGCCTGTGAGGG 0.527000 13 43 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114332480 114332480 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:114332480G>A ENST00000407693.2 - 9 1032 c.770C>T c.(769-771)cCa>cTa p.P257L PTGR1_ENST00000238248.3_Missense_Mutation_p.P134L|PTGR1_ENST00000309195.5_Missense_Mutation_p.P257L|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000538962.1_Missense_Mutation_p.P257L NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 257 Pro-rich. leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 AACAATCTCTGGGGGTGGGCC 0.537000 6 13 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409767 159409767 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:159409767C>T ENST00000423932.3 + 1 256 c.219C>T c.(217-219)ttC>ttT p.F73F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 73 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGTACTTCTTCCTGAGCATGC 0.458000 5 81 0 0 1 0 0 RAB27B 5874 broad.mit.edu 37 18 52556598 52556598 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:52556598G>A ENST00000262094.5 + 6 1132 c.611G>A c.(610-612)gGa>gAa p.G204E RP11-839G9.1_ENST00000588466.1_RNA NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 204 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) GGAAATTCTGGAAACTTGGAT 0.393000 5 47 0 0 1 0 0 FIZ1 84922 broad.mit.edu 37 19 56104195 56104195 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56104195G>A ENST00000221665.3 - 3 1201 c.1112C>T c.(1111-1113)gCc>gTc p.A371V NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CTCCAAGGCGGCCAGCGCCGC 0.771000 5 18 0 0 1 0 0 SLC22A18 5002 broad.mit.edu 37 11 2943677 2943677 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:2943677C>T ENST00000380574.1 + 10 1409 c.978C>T c.(976-978)tcC>tcT p.S326S SLC22A18_ENST00000449793.2_Silent_p.S228S|SLC22A18_ENST00000347936.2_Silent_p.S326S|SLC22A18_ENST00000312221.5_Silent_p.S326S|SLC22A18_ENST00000441077.1_3'UTR Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 326 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CCTGGATGTCCAGCGTCTTCC 0.662000 4 18 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125734348 125734348 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:125734348G>A ENST00000383598.2 - 7 1166 c.881C>T c.(880-882)cCc>cTc p.P294L SLC41A3_ENST00000315891.6_Missense_Mutation_p.P320L|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P284L|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P203L|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P320L NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 320 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) ACATATGACGGGGGTAAATAT 0.512000 8 93 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107430421 107430421 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107430421C>T ENST00000334504.7 - 23 2089 c.1856G>A c.(1855-1857)gGa>gAa p.G619E COL4A6_ENST00000538570.1_Missense_Mutation_p.G619E|COL4A6_ENST00000545689.1_Missense_Mutation_p.G619E|COL4A6_ENST00000372216.4_Missense_Mutation_p.G620E|COL4A6_ENST00000394872.2_Missense_Mutation_p.G620E NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 620 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TAACCCATTTCCTGGGAGGCC 0.557000 Alport syndrome with Diffuse Leiomyomatosis 52 147 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45360902 45360902 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:45360902C>T ENST00000560629.1 + 3 313 c.313C>T c.(313-315)Ccg>Tcg p.P105S ITGB3_ENST00000571680.1_Silent_p.L116L|ITGB3_ENST00000435993.2_Silent_p.L69L|ITGB3_ENST00000559488.1_Silent_p.L116L P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GGATTGCACTCCGGCTCCGGC 0.612000 4 43 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31089326 31089326 + Nonsense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:31089326G>T ENST00000394979.2 + 1 2104 c.1681G>T c.(1681-1683)Gag>Tag p.E561* ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E561* O15015 ZN646_HUMAN zinc finger protein 646 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 ACATGAAGAAGAGGCCACGGA 0.582000 5 48 3.59834e-05 3.6257e-05 1 1 0 ZNF264 9422 broad.mit.edu 37 19 57723297 57723297 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57723297C>T ENST00000263095.6 + 4 1246 c.832C>T c.(832-834)Cag>Tag p.Q278* ZNF264_ENST00000536056.1_Nonsense_Mutation_p.Q278* NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TACCCAGCACCAGCGGATTCA 0.517000 6 63 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116068249 116068249 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:116068249C>T ENST00000369271.3 - 9 1210 c.910G>A c.(910-912)Gct>Act p.A304T AFAP1L2_ENST00000545353.1_Missense_Mutation_p.A357T|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.A304T NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 304 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TACTCTGAAGCCGACAGGTAC 0.527000 6 45 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120459207 120459207 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120459207G>A ENST00000256646.2 - 34 6357 c.6138C>T c.(6136-6138)ccC>ccT p.P2046P NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2046 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CCACATCCCGGGGAAGACGAT 0.542000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 49 0 0 1 0 0 B2M 567 broad.mit.edu 37 15 45007679 45007679 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:45007679C>T ENST00000558401.1 + 2 196 c.126C>T c.(124-126)ttC>ttT p.F42F B2M_ENST00000559916.1_Silent_p.F42F|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Silent_p.F42F NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 42 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) AGTCAAATTTCCTGAATTGCT 0.403000 20 96 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36293111 36293111 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36293111G>A ENST00000301175.3 - 10 1425 c.1408C>T c.(1408-1410)Cac>Tac p.H470Y NM_021232.1 NP_067055.1 Q9UF12 PROD2_HUMAN proline dehydrogenase (oxidase) 2 470 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGAGAGACGTGGTCACACATG 0.562000 20 129 0 0 1 0 0 RHCE 6006 broad.mit.edu 37 1 25747200 25747200 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:25747200G>A ENST00000294413.7 - 1 136 c.78C>T c.(76-78)ctC>ctT p.L26L RHCE_ENST00000455194.1_Silent_p.L26L|RHCE_ENST00000425135.1_Silent_p.L26L|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000349438.4_Silent_p.L26L|RHCE_ENST00000413854.1_Silent_p.L26L|RHCE_ENST00000346452.4_Silent_p.L26L|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000243186.6_Silent_p.L26L|RHCE_ENST00000340849.4_Silent_p.L26L NM_020485.4 NP_065231.3 P18577 RHCE_HUMAN Rh blood group, CcEe antigens 26 integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) AATAGAAGAGGAGAATGAGAG 0.542000 10 107 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127729023 127729023 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:127729023C>T ENST00000508053.1 - 16 2244 c.1270G>A c.(1270-1272)Gga>Aga p.G424R FBN2_ENST00000508989.1_Missense_Mutation_p.G391R|FBN2_ENST00000262464.4_Missense_Mutation_p.G424R P35556 FBN2_HUMAN fibrillin 2 424 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGAATTCCTCCCATTGGAAGT 0.502000 4 50 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997210 82997210 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82997210C>T ENST00000307792.3 - 17 2487 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K SEMA3E_ENST00000427262.1_Missense_Mutation_p.E614K NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 674 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTCTCCTCTTCCACTACCTCC 0.478000 5 47 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380677 78380677 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:78380677C>T ENST00000278550.7 - 32 7175 c.6713G>A c.(6712-6714)cGg>cAg p.R2238Q NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.R2238L(2) GATGTCATACCGTAGTGGTGT 0.562000 11 137 0 0 1 0 0 LIX1 167410 broad.mit.edu 37 5 96443176 96443176 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:96443176C>A ENST00000274382.4 - 3 570 c.275G>T c.(274-276)cGg>cTg p.R92L CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 92 p.R92L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) AGCTGCATCCCGCCTGGCCTC 0.493000 5 56 0.00116845 0.00117337 1 1 0 ALOX15 246 broad.mit.edu 37 17 4536531 4536531 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:4536531G>A ENST00000570836.1 - 11 1424 c.1328C>T c.(1327-1329)cCc>cTc p.P443L ALOX15_ENST00000574640.1_Missense_Mutation_p.P404L|ALOX15_ENST00000545513.1_Missense_Mutation_p.P465L|ALOX15_ENST00000293761.3_Missense_Mutation_p.P443L P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 443 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GTCATCAGGGGGACAGAAGGA 0.582000 7 25 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60904292 60904292 + Silent SNP G G A rs17812939 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60904292G>A ENST00000252999.3 - 33 4203 c.4137C>T c.(4135-4137)gtC>gtT p.V1379V NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1379 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTTCTCAGGGACCACGAGTA 0.632000 14 44 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255223 15255223 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:15255223G>A ENST00000378116.4 - 8 2370 c.2364C>T c.(2362-2364)ctC>ctT p.L788L NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 788 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCAGGTACACGAGCTGCGTGT 0.607000 10 41 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632968 143632968 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143632968C>T ENST00000408955.2 + 1 710 c.643C>T c.(643-645)Ctg>Ttg p.L215L NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CTGCCTGGTTCTGTTGTCCTA 0.522000 8 54 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405491 135405491 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135405491G>A ENST00000394143.1 + 5 916 c.625G>A c.(625-627)Gaa>Aaa p.E209K GPR112_ENST00000287534.4_Missense_Mutation_p.E146K|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 209 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGTTAGTTGGGAAGAAGACGT 0.438000 15 60 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393464 145393464 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:145393464C>T ENST00000511217.1 + 4 951 c.899C>T c.(898-900)tCc>tTc p.S300F SH3RF2_ENST00000359120.4_Missense_Mutation_p.S300F Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 300 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCAGTTTTCCATCACAACA 0.577000 22 83 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671667 39671667 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:39671667G>A ENST00000398930.1 + 4 838 c.484G>A c.(484-486)Gga>Aga p.G162R KCNJ15_ENST00000398934.1_Missense_Mutation_p.G162R|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G162R|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G162R|KCNJ15_ENST00000328656.3_Missense_Mutation_p.G162R Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 162 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity p.G162R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTTCATCACCGGAACCTTCCT 0.512000 4 59 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48037013 48037013 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:48037013G>A ENST00000295461.5 + 5 643 c.577G>A c.(577-579)Gaa>Aaa p.E193K NIPAL1_ENST00000508180.1_3'UTR NM_207330.1 NP_997213.1 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 193 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 ACAAGAAGAGGAAGTCACATC 0.408000 13 50 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166532958 166532958 + Missense_Mutation SNP G G A rs79015458 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:166532958G>A ENST00000314499.7 + 6 921 c.545G>A c.(544-546)cGa>cAa p.R182Q CSRNP3_ENST00000342316.4_Missense_Mutation_p.R182Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R214Q NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 182 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 ACAAAAAAACGAAGAGCTCTG 0.483000 36 193 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40765958 40765958 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40765958C>T ENST00000251413.3 + 8 847 c.785C>T c.(784-786)cCc>cTc p.P262L NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 262 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TCGCTCATTCCCACCCCACGG 0.617000 39 143 0 0 1 0 0 EDIL3 10085 broad.mit.edu 37 5 83356281 83356281 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:83356281C>T ENST00000296591.5 - 9 1393 c.975G>A c.(973-975)atG>atA p.M325I EDIL3_ENST00000380138.3_Missense_Mutation_p.M315I|EDIL3_ENST00000510271.1_5'UTR NM_005711.3 NP_005702.3 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like domains 3 325 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GTCCTGATTTCATACCCAGAG 0.438000 4 43 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158114663 158114663 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:158114663C>T ENST00000259056.4 + 1 554 c.69C>T c.(67-69)gtC>gtT p.V23V NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 23 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TAGCTTCTGTCATCTGGCTCC 0.507000 7 106 0 0 1 0 0 PRR25 388199 broad.mit.edu 37 16 863484 863484 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:863484T>A ENST00000301698.1 + 3 832 c.832T>A c.(832-834)Tgt>Agt p.C278S NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 278 large_intestine(1)|lung(1)|skin(1) 3 TCGGCCATCATGTGCGAATGT 0.682000 3 14 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89804019 89804019 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:89804019C>T ENST00000310775.7 + 4 319 c.233C>T c.(232-234)tCg>tTg p.S78L FANCI_ENST00000300027.8_Missense_Mutation_p.S78L|FANCI_ENST00000567996.1_Missense_Mutation_p.S78L|FANCI_ENST00000451393.2_5'UTR NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 78 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTGGTGGAATCGGGGGATTTG 0.428000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 129 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38928131 38928131 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:38928131G>A ENST00000335552.4 - 1 283 c.235C>T c.(235-237)Ctc>Ttc p.L79F NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 79 Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) TTCCCAGAGAGGAGGCTGTGC 0.547000 6 89 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30714787 30714787 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:30714787A>G ENST00000399921.1 + 5 2087 c.1844A>G c.(1843-1845)cAg>cGg p.Q615R BACH1_ENST00000286800.3_Missense_Mutation_p.Q615R NM_206866.1 NP_996749.1 O14867 BACH1_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 615 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 GAGACAAAGCAGAACCTAACT 0.438000 17 60 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150840164 150840164 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150840164G>A ENST00000370357.4 + 13 1595 c.1350G>A c.(1348-1350)aaG>aaA p.K450K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 450 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CACATCCCAAGGACGTCAAGT 0.502000 20 71 0 0 1 0 0 MIR520F 574464 broad.mit.edu 37 19 54185475 54185475 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54185475C>T ENST00000384824.1 + 0 63 NR_030186.1 GCAAGTGCTTCCTTTTAGAGG 0.448000 8 44 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128695239 128695239 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:128695239G>A ENST00000371113.4 + 10 1073 c.908G>A c.(907-909)aGa>aAa p.R303K OCRL_ENST00000357121.5_Missense_Mutation_p.R303K NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 303 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GCTGTAGAGAGAGGTTTGCAT 0.398000 11 76 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142564288 142564288 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142564288C>T ENST00000392957.2 + 10 2299 c.1512C>T c.(1510-1512)atC>atT p.I504I EPHB6_ENST00000442129.1_Silent_p.I504I|EPHB6_ENST00000411471.2_Silent_p.I227I NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 504 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCAACAGCATCACGGTGTCCT 0.592000 8 82 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48267936 48267936 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48267936G>A ENST00000225964.5 - 34 2483 c.2365C>T c.(2365-2367)Cct>Tct p.P789S NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 789 Triple-helical region. 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) GGACCAGCAGGGCCGCTGGGA 0.617000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 7 124 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148761357 148761357 + Missense_Mutation SNP G G A rs148125308 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:148761357G>A ENST00000367467.3 + 3 798 c.323G>A c.(322-324)cGg>cAg p.R108Q SASH1_ENST00000367469.1_Missense_Mutation_p.R63Q NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 108 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTTCAGCTGCGGTCCCAGATC 0.443000 9 40 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023380 6023380 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6023380G>A ENST00000330728.4 - 1 1044 c.999C>T c.(997-999)atC>atT p.I333I NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGGTGCAGGATGTTGAGCA 0.507000 5 45 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57411519 57411519 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57411519C>T ENST00000543257.1 - 8 1490 c.924G>A c.(922-924)atG>atA p.M308I C8B_ENST00000371237.4_Missense_Mutation_p.M360I|C8B_ENST00000535057.1_Missense_Mutation_p.M298I NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 360 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 CCTCTTTGTTCATAACGAGGG 0.473000 17 64 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116307445 116307445 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:116307445G>A ENST00000533213.2 - 5 885 c.584C>T c.(583-585)tCc>tTc p.S195F ABLIM1_ENST00000277895.5_Missense_Mutation_p.S255F|ABLIM1_ENST00000369252.4_Missense_Mutation_p.S195F O14639 ABLM1_HUMAN actin binding LIM protein 1 255 LIM zinc-binding 2. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CTTCCCGCAGGACTTGCATTT 0.582000 6 32 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50345692 50345692 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:50345692C>T ENST00000376020.2 - 7 3908 c.3883G>A c.(3883-3885)Gag>Aag p.E1295K SHROOM4_ENST00000460112.3_Missense_Mutation_p.E1179K|SHROOM4_ENST00000289292.7_Missense_Mutation_p.E1295K NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1295 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TCTGCCATCTCAGGTTGGTCT 0.453000 22 54 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703791 4703791 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4703791C>T ENST00000396950.3 - 2 390 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGCTGCGTTCCGTCCTTACG 0.507000 9 52 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704252 117704252 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:117704252C>T ENST00000355044.3 + 29 4228 c.4102C>T c.(4102-4104)Cga>Tga p.R1368* ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.R161*|ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.R419* NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1368 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGTCCGGAATCGAAAACACCT 0.413000 14 77 0 0 1 0 0 SH3GL1 6455 broad.mit.edu 37 19 4365621 4365621 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4365621G>A ENST00000269886.3 - 4 367 c.187_splice c.e4-1 p.A63_splice SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Splice_Site_p.A63_splice NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 63 BAR.|Required for dimerization upon membrane association (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TAGCCCGCGAGGCTGGGATAG 0.657000 T MLL AL 8 107 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96061529 96061529 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:96061529G>A ENST00000297954.4 + 25 6212 c.6212G>A c.(6211-6213)gGa>gAa p.G2071E WNK2_ENST00000395477.2_Missense_Mutation_p.G2034E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1683E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1646E Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2071 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GATGGAGGCGGAGCGCGTGGC 0.652000 9 36 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61225615 61225615 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61225615G>A ENST00000382768.1 + 2 199 c.199G>A c.(199-201)Gaa>Aaa p.E67K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E67K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 67 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TTCCCAGAATGAAAGCAAAGA 0.438000 20 81 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34123618 34123618 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34123618C>T ENST00000373381.4 - 27 4551 c.4375G>A c.(4375-4377)Gga>Aga p.G1459R CSMD2_ENST00000373380.1_Missense_Mutation_p.G332R|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1419 CUB 9. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCTGCACTTCCCTGCAGCGCG 0.592000 9 108 0 0 1 0 0 CAPN10 11132 broad.mit.edu 37 2 241555870 241555870 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:241555870C>T ENST00000270364.7 + 3 479 c.339C>T c.(337-339)ttC>ttT p.F113F GPR35_ENST00000403859.1_5'UTR|GPR35_ENST00000319838.5_5'UTR|GPR35_ENST00000438013.2_5'UTR Q9HC96 CAN10_HUMAN calpain 10 128 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) ggctggagttcccatgcctgc 0.537000 49 277 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150911368 150911368 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:150911368G>A ENST00000474524.1 + 14 2098 c.2060G>A c.(2059-2061)aGg>aAg p.R687K MED12L_ENST00000273432.4_Missense_Mutation_p.R547K|MED12L_ENST00000422248.2_Missense_Mutation_p.R687K|MED12L_ENST00000309237.4_Missense_Mutation_p.R722K NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 687 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGGTGAAGAGGGAAAAGCCA 0.403000 15 74 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60213053 60213053 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:60213053C>T ENST00000267484.5 - 2 723 c.388G>A c.(388-390)Gaa>Aaa p.E130K NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 130 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGGCCATTTTCCTTCTGAAGA 0.478000 10 24 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35861076 35861076 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:35861076C>T ENST00000303115.3 + 2 334 c.205C>T c.(205-207)Ctg>Ttg p.L69L IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Silent_p.L69L|IL7R_ENST00000343305.4_Silent_p.L69L|IL7R_ENST00000511982.1_Silent_p.L69L NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 69 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CATCACCAATCTGGAATTTGA 0.418000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 10 87 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76980020 76980020 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76980020C>T ENST00000315938.4 - 8 823 c.573G>A c.(571-573)aaG>aaA p.K191K GDPD4_ENST00000376217.2_Silent_p.K191K NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 191 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CCAAATTCTCCTTCTCCTGAA 0.453000 5 105 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386323 56386323 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:56386323G>A ENST00000355701.3 - 22 5180 c.4310C>T c.(4309-4311)cCc>cTc p.P1437L BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1377L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1437L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1437 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGAGGCCTGGGGCCCATTGTT 0.687000 14 88 0 0 1 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417602 150417602 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150417602G>A ENST00000307194.5 + 3 650 c.510G>A c.(508-510)gaG>gaA p.E170E NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAACACAGAGAACCGGGCCT 0.647000 21 82 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48646831 48646831 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:48646831T>C ENST00000263274.7 - 11 1302 c.883A>G c.(883-885)Acg>Gcg p.T295A LIG1_ENST00000536218.1_Missense_Mutation_p.T227A|LIG1_ENST00000427526.2_Missense_Mutation_p.T264A NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 295 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TTCTCAAACGTCCGGGCCACA 0.597000 Nucleotide excision repair (NER) 13 81 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55452983 55452983 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55452983G>A ENST00000588756.1 - 4 583 c.97C>T c.(97-99)Ccc>Tcc p.P33S NLRP7_ENST00000328092.5_Missense_Mutation_p.P33S|NLRP7_ENST00000446217.1_Missense_Mutation_p.P61S|NLRP7_ENST00000590030.1_Missense_Mutation_p.P33S|NLRP7_ENST00000340844.2_Missense_Mutation_p.P33S|NLRP7_ENST00000592784.1_Missense_Mutation_p.P33S|NLRP7_ENST00000448121.2_Missense_Mutation_p.P33S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 33 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCTTCGAGGGGAAAAGCCCAT 0.493000 4 54 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761353 96761353 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:96761353G>A ENST00000295266.4 + 1 115 c.52G>A c.(52-54)Gct>Act p.A18T NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 18 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCAGAAATCAGCTCGCAGAGT 0.537000 7 30 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168099262 168099262 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:168099262C>T ENST00000409195.1 + 9 1449 c.1360C>T c.(1360-1362)Cct>Tct p.P454S XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P454S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P232S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 279 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 AGAATTTCCTCCTCCCCCACC 0.453000 10 59 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9498814 9498814 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:9498814G>A ENST00000246070.2 + 5 1095 c.603G>A c.(601-603)atG>atA p.M201I LAMP5_ENST00000427562.2_Missense_Mutation_p.M157I NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 201 integral to membrane p.M201fs*33(1) CGGTCACCATGATCCTGTCTG 0.498000 6 37 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58587679 58587679 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:58587679C>T ENST00000348616.4 + 18 2693 c.2393C>T c.(2392-2394)tCt>tTt p.S798F CDH26_ENST00000244047.5_Intron|CDH26_ENST00000350849.6_Missense_Mutation_p.S131F|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.S90F NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 257 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TCCCTCAGCTCTCTGGCCAGC 0.532000 28 83 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101510497 101510497 + Nonsense_Mutation SNP C C T rs145182702 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:101510497C>T ENST00000392979.3 + 24 2747 c.2386C>T c.(2386-2388)Cga>Tga p.R796* ANO4_ENST00000392977.3_Nonsense_Mutation_p.R831*|ANO4_ENST00000550015.1_Nonsense_Mutation_p.R351*|ANO4_ENST00000299222.9_Nonsense_Mutation_p.R351* NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 831 chloride channel complex chloride channel activity p.R796*(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTCTGTATTTCGAATTTCTGA 0.483000 HNSCC(74;0.22) 17 164 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95791484 95791484 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:95791484G>A ENST00000260766.3 + 2 1315 c.681G>A c.(679-681)aaG>aaA p.K227K PLCE1_ENST00000371380.2_Silent_p.K227K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 227 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGAAGCAAAAGAAAAACTATG 0.388000 5 38 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957724 49957724 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:49957724G>A ENST00000376056.2 - 5 1763 c.1613C>T c.(1612-1614)tCt>tTt p.S538F AKAP4_ENST00000376064.3_Missense_Mutation_p.S538F|AKAP4_ENST00000358526.2_Missense_Mutation_p.S547F|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 547 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CTTAAGGGCAGAGACAATCAG 0.473000 16 36 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947151 57947151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57947151C>T ENST00000335397.3 + 3 551 c.235C>T c.(235-237)Ccc>Tcc p.P79S NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TATCACTGTCCCCCAGATGCT 0.502000 25 81 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108276555 108276555 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:108276555C>T ENST00000520734.1 - 7 915 c.630G>A c.(628-630)ggG>ggA p.G210G ANGPT1_ENST00000520052.1_Silent_p.G209G|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 410 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TTCCTGCTGTCCCAGTGTGAC 0.398000 6 54 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028656 37028656 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:37028656C>T ENST00000358047.3 + 1 2225 c.2173C>T c.(2173-2175)Cat>Tat p.H725Y NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 725 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 TCGCGTATCTCATCTCTGCCC 0.642000 17 32 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236733 42236733 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42236733G>A ENST00000541110.1 - 5 1164 c.596C>T c.(595-597)tCc>tTc p.S199F TRERF1_ENST00000372917.4_Missense_Mutation_p.S199F|TRERF1_ENST00000372922.4_Missense_Mutation_p.S199F|TRERF1_ENST00000354325.2_Missense_Mutation_p.S199F|TRERF1_ENST00000340840.2_Missense_Mutation_p.S199F Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 199 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGTAGCGGGAAGGGATAGC 0.637000 19 75 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111430413 111430413 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:111430413G>A ENST00000535254.1 - 3 254 c.187C>T c.(187-189)Cat>Tat p.H63Y BUB1_ENST00000409311.1_Missense_Mutation_p.H83Y|BUB1_ENST00000302759.6_Missense_Mutation_p.H83Y NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 83 BUB1 N-terminal.|Necessary for kinetochore localization. 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) AAAAATTGATGGAGGTCACTG 0.478000 11 54 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705399 189705399 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189705399C>T ENST00000319332.5 - 5 1212 c.1015G>A c.(1015-1017)Gat>Aat p.D339N LEPREL1_ENST00000427335.2_Missense_Mutation_p.D158N NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 339 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus 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 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACATCCTCATCATCTGGATGG 0.473000 5 90 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35072708 35072708 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:35072708C>T ENST00000382002.5 - 6 938 c.512G>A c.(511-513)cGa>cAa p.R171Q PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000542609.1_Missense_Mutation_p.R171Q|PRLR_ENST00000348262.3_Missense_Mutation_p.R171Q|PRLR_ENST00000342362.5_Missense_Mutation_p.R70Q|PRLR_ENST00000511486.1_Missense_Mutation_p.R70Q|PRLR_ENST00000310101.5_Missense_Mutation_p.R171Q|PRLR_ENST00000397391.3_Missense_Mutation_p.R100Q|PRLR_ENST00000513753.1_Missense_Mutation_p.R171Q|PRLR_ENST00000231423.3_Missense_Mutation_p.R171Q NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 171 Fibronectin type-III 2. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity p.R171L(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGGTTTTAATCGAATTTCATA 0.438000 6 98 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45368325 45368325 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:45368325C>T ENST00000560629.1 + 9 1096 c.1096C>T c.(1096-1098)Ccg>Tcg p.P366S ITGB3_ENST00000571680.1_Silent_p.I377I|ITGB3_ENST00000435993.2_Silent_p.I330I|ITGB3_ENST00000559488.1_Silent_p.I377I P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CTCAGAAAATCCGTTCTAAAG 0.483000 16 91 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32407761 32407761 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:32407761G>A ENST00000357033.4 - 32 4581 c.4375C>T c.(4375-4377)Cga>Tga p.R1459* DMD_ENST00000378677.2_Nonsense_Mutation_p.R1455* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1459 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R1454*(2)|p.R1455*(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGGAATAATCGAAACTTCATG 0.348000 12 32 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94145835 94145835 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:94145835G>A ENST00000282020.4 + 7 1292 c.1034G>A c.(1033-1035)cGa>cAa p.R345Q GRID2_ENST00000510992.1_Missense_Mutation_p.R250Q NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 345 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTGGAGGACCGAAAGTGGCAC 0.443000 7 34 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1219493 1219493 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1219493G>A ENST00000358378.6 + 13 2746 c.e13-1 mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CTCGTGGGCAGGCTGGACAGT 0.667000 8 6 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104922629 104922629 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:104922629G>A ENST00000262231.10 + 3 1377 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 600 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAGACAAAAGGAAATGATGTA 0.443000 HNSCC(12;0.0054) 10 93 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125143694 125143694 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:125143694C>T ENST00000362012.2 + 6 546 c.541C>T c.(541-543)Ctg>Ttg p.L181L PTGS1_ENST00000540753.1_Silent_p.L156L|PTGS1_ENST00000223423.4_Silent_p.L181L|PTGS1_ENST00000373698.5_Silent_p.L72L NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 181 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCGCCGCTTCCTGCTCAGGAG 0.547000 4 27 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833206 43833206 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:43833206C>T ENST00000319294.6 + 4 459 c.428C>T c.(427-429)cCc>cTc p.P143L UBASH3A_ENST00000398367.1_Missense_Mutation_p.P143L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.P143L NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 143 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GGCTCCTTCCCCACGGCCGTG 0.607000 26 100 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170876212 170876212 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:170876212G>A ENST00000274625.5 + 4 856 c.312G>A c.(310-312)acG>acA p.T104T NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 104 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAAGGAGACGGAATTCTACC 0.537000 12 56 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49753680 49753680 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:49753680G>A ENST00000304801.3 - 1 1373 c.1221C>T c.(1219-1221)atC>atT p.I407I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 407 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTCCAGGAAGGATTTTACCTT 0.458000 24 66 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648541 169648541 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:169648541T>C ENST00000366787.3 - 4 829 c.580A>G c.(580-582)Aaa>Gaa p.K194E NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 194 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCAGAGCCTTTGGCCACGTAC 0.592000 23 144 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3778535 3778535 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3778535G>A ENST00000310132.6 - 13 1654 c.1256C>T c.(1255-1257)tCa>tTa p.S419L MATK_ENST00000395040.2_Missense_Mutation_p.S378L|MATK_ENST00000395045.2_Missense_Mutation_p.S420L|MATK_ENST00000585778.1_Missense_Mutation_p.S418L NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 419 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTCCATATGAGAAGACCTC 0.642000 4 18 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350858 101350858 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:101350858C>T ENST00000534062.1 - 1 326 c.268G>A c.(268-270)Gat>Aat p.D90N MIR432_ENST00000606207.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 90 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TTGGGTGGATCCTCTATTTCC 0.557000 10 62 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37546932 37546932 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:37546932G>A ENST00000299824.1 + 11 1516 c.1327G>A c.(1327-1329)Gat>Aat p.D443N PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D401N NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 443 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GGCCAACGGGGATGTCTGGAA 0.607000 10 205 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93955046 93955046 + Missense_Mutation SNP G G A rs141581954 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:93955046G>A ENST00000369303.4 - 16 3036 c.2852C>T c.(2851-2853)tCc>tTc p.S951F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 951 SAM. integral to plasma membrane ATP binding|ephrin receptor activity p.S951F(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGATTCAAGGGAATTGTAGCC 0.338000 4 35 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582688 158582688 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158582688G>A ENST00000368148.3 - 51 7233 c.7053C>T c.(7051-7053)atC>atT p.I2351I SPTA1_ENST00000368147.3_Silent_p.I2348I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2351 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CACTGGACTTGATGTTTTCTG 0.468000 10 47 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16202912 16202912 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16202912A>G ENST00000375759.3 + 3 824 c.620A>G c.(619-621)gAg>gGg p.E207G SPEN_ENST00000471538.1_3'UTR NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 207 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGGCTCGCGAGCAGTTTACA 0.532000 16 68 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23884450 23884450 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:23884450C>T ENST00000355349.3 - 37 5475 c.5313G>A c.(5311-5313)aaG>aaA p.K1771K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1771 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTCCTGCTCCTTCTTCAGCT 0.607000 9 121 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38939420 38939420 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:38939420C>T ENST00000355481.4 + 11 1220 c.1089C>T c.(1087-1089)ccC>ccT p.P363P RYR1_ENST00000359596.3_Silent_p.P363P|RYR1_ENST00000360985.3_Silent_p.P363P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 363 MIR 5. 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) CTCCAGACCCCAAGGCCCTGC 0.612000 9 39 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975306 118975306 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:118975306C>T ENST00000296499.5 + 2 644 c.241C>T c.(241-243)Cta>Tta p.L81L NDST3_ENST00000433996.2_Silent_p.L81L NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 81 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCCCACAGTCCTAGTATTTGT 0.418000 6 71 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115222318 115222318 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115222318G>A ENST00000369538.3 - 6 913 c.866C>T c.(865-867)aCc>aTc p.T289I AMPD1_ENST00000520113.2_Missense_Mutation_p.T293I|AMPD1_ENST00000353928.6_Missense_Mutation_p.T260I NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 260 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GCGCCGGTGGGTATAGGTCTT 0.413000 19 104 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102340891 102340891 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:102340891A>G ENST00000438793.3 + 17 2234 c.1764A>G c.(1762-1764)aaA>aaG p.K588K PAM_ENST00000346918.2_Silent_p.K588K|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Silent_p.K588K|PAM_ENST00000348126.2_Silent_p.K481K|PAM_ENST00000455264.2_Silent_p.K588K|PAM_ENST00000274392.9_Silent_p.K491K NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 588 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GTATAGATAAAGATGGGAATT 0.348000 6 30 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94032909 94032909 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94032909G>A ENST00000370244.1 - 13 2514 c.2226C>T c.(2224-2226)aaC>aaT p.N742N BCAR3_ENST00000539242.1_Silent_p.N418N|BCAR3_ENST00000260502.6_Silent_p.N742N|BCAR3_ENST00000370243.1_Silent_p.N742N|BCAR3_ENST00000370247.3_Silent_p.N651N NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 742 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TTGCCAAATGGTTCAGCATGA 0.512000 4 60 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22186564 22186564 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:22186564G>A ENST00000344041.6 - 19 1811 c.1499C>T c.(1498-1500)gCt>gTt p.A500V RAPGEF5_ENST00000401957.2_Missense_Mutation_p.A350V NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 350 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TAATTCCAGAGCAAGATCCCA 0.358000 16 82 0 0 1 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332679 71332679 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:71332679G>A ENST00000242462.4 - 2 150 c.121C>T c.(121-123)Cgc>Tgc p.R41C NM_020999.3 NP_066279.2 Q9Y4Z2 NGN3_HUMAN neurogenin 3 41 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity endometrium(4)|large_intestine(2)|lung(6)|prostate(1) 13 CCCCGTGTGCGAGTGGGGCTG 0.721000 3 30 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117727237 117727237 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:117727237C>T ENST00000276204.6 + 20 2274 c.2200C>T c.(2200-2202)Cat>Tat p.H734Y DOCK11_ENST00000276202.7_Missense_Mutation_p.H734Y Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 734 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CACTTTTTATCATGTAAGTTG 0.333000 8 44 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323097 61323097 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61323097G>A ENST00000283752.5 - 8 1110 c.967C>T c.(967-969)Ctc>Ttc p.L323F SERPINB3_ENST00000332821.8_Missense_Mutation_p.L271F|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 323 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GATAGCACGAGACCGCGGCTC 0.552000 17 87 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131471824 131471824 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:131471824C>T ENST00000261654.5 + 6 1234 c.675C>T c.(673-675)ttC>ttT p.F225F GPR133_ENST00000535015.1_Silent_p.F257F NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 225 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACGGTGCTTTCGATGAGTTCA 0.537000 5 86 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011256 105011256 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105011256G>A ENST00000372582.1 + 11 2419 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E555K|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.E160K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 555 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTTAGTATATGAAATGCCCAT 0.423000 31 91 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135145026 135145026 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:135145026G>A ENST00000372169.2 - 25 7445 c.7263C>T c.(7261-7263)atC>atT p.I2421I SETX_ENST00000393220.1_Silent_p.I2388I|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Silent_p.I2421I Q7Z333 SETX_HUMAN senataxin 2421 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AATGTCCGAGGATGAAGAGGC 0.413000 62 260 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40319107 40319107 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:40319107G>A ENST00000593685.1 - 6 1105 c.637C>T c.(637-639)Ctg>Ttg p.L213L DYRK1B_ENST00000430012.2_Silent_p.L213L|DYRK1B_ENST00000348817.3_Silent_p.L213L|DYRK1B_ENST00000597639.1_Silent_p.L213L|DYRK1B_ENST00000323039.5_Silent_p.L213L Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 213 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TTCCGGGTCAGGTTCAGCGAG 0.587000 3 28 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394581 164394581 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:164394581C>T ENST00000280605.3 - 1 466 c.306G>A c.(304-306)agG>agA p.R102R NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 102 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) TGTGAAGTTTCCTCAGGTTCA 0.547000 4 28 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304184 115304184 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:115304184C>T ENST00000371906.4 + 3 841 c.651C>T c.(649-651)atC>atT p.I217I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 217 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGAAAAATATCCTTGGTTTTA 0.373000 13 40 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28669455 28669455 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:28669455C>T ENST00000280904.6 - 5 1020 c.577G>A c.(577-579)Gga>Aga p.G193R DSC2_ENST00000251081.6_Missense_Mutation_p.G193R NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 193 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TACAAGTTTCCAGTGTCTCTC 0.398000 5 40 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155215138 155215138 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:155215138G>A ENST00000460012.1 - 15 2132 c.1775C>T c.(1774-1776)tCc>tTc p.S592F PLCH1_ENST00000414191.1_Missense_Mutation_p.S592F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S592F|PLCH1_ENST00000494598.1_Missense_Mutation_p.S610F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S610F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S610F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 610 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCGGCCACGGAGTTTGTGTA 0.443000 13 126 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29255914 29255914 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:29255914G>A ENST00000379558.4 + 15 2478 c.2127G>A c.(2125-2127)caG>caA p.Q709Q FAM179A_ENST00000403861.2_Silent_p.Q654Q|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 709 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CCATTAAACAGCAGGTGAGCT 0.527000 5 14 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495673 71495673 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:71495673C>T ENST00000296755.7 + 5 6789 c.6491C>T c.(6490-6492)cCg>cTg p.P2164L NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2164 microtubule|microtubule associated complex structural molecule activity p.P2164Q(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GATGTTCCCCCGGAGACTGAA 0.577000 5 71 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483077 32483077 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:32483077G>A ENST00000359872.6 - 1 1236 c.475C>T c.(475-477)Cgt>Tgt p.R159C NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 159 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGGCCCACACGGTGCAGGAAC 0.567000 9 102 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87487698 87487698 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:87487698C>T ENST00000327946.7 - 10 1532 c.1447G>A c.(1447-1449)Gag>Aag p.E483K GRID1_ENST00000536331.1_Missense_Mutation_p.E54K NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 483 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TGGTAAATCTCATATTTAAAG 0.542000 Multiple Myeloma(13;0.14) 12 133 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644302 20644302 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:20644302C>T ENST00000428453.1 - 0 3261 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 GCCACCACCTCCTCCGCCAGT 0.627000 4 59 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284313 33284313 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33284313G>A ENST00000431845.2 - 2 532 c.381C>T c.(379-381)ttC>ttT p.F127F ZBTB22_ENST00000418724.1_Silent_p.F127F NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CCACTGTAAGGAAGTTGACAA 0.572000 22 144 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131825559 131825559 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:131825559C>T ENST00000359827.3 - 30 6199 c.5237G>A c.(5236-5238)aGg>aAg p.R1746K PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1746K Q9HCM2 PLXA4_HUMAN plexin A4 1746 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GACCCAAAACCTCAGGGGCAG 0.557000 6 89 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48805805 48805805 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:48805805G>A ENST00000316623.5 - 13 1984 c.1529C>T c.(1528-1530)tCg>tTg p.S510L NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 510 EGF-like 7; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACAGGTGTACGAACCCTGGTT 0.473000 8 49 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436788 72436788 + Silent SNP C C T rs145203828 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72436788C>T ENST00000392627.1 + 2 2134 c.1008C>T c.(1006-1008)ttC>ttT p.F336F GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.F303F|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 291 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 CCTGGGCCTTCGTCCTCTTCT 0.617000 12 44 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106236023 106236023 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:106236023G>A ENST00000390551.2 - 0 780 TTTCTCGATGGGGGCTGGGAG 0.607000 66 148 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505767 228505767 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228505767G>A ENST00000570156.2 + 64 16969 c.16895G>A c.(16894-16896)gGt>gAt p.G5632D OBSCN_ENST00000366707.4_Missense_Mutation_p.G2309D|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4675D|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4675D|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1794D NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4675 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTCTCCCAGGGTCGGCAACAG 0.642000 5 134 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74690363 74690363 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:74690363C>T ENST00000334011.5 + 8 1653 c.1435C>T c.(1435-1437)Cct>Tct p.P479S NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 479 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) CTTCCAGGTCCCTGTCTTCAA 0.433000 13 173 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59170316 59170316 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:59170316C>T ENST00000262717.4 + 5 1190 c.792C>T c.(790-792)ctC>ctT p.L264L CDH20_ENST00000538374.1_Silent_p.L264L|CDH20_ENST00000536675.2_Silent_p.L264L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 264 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) ACATCACCCTCTCAGATGTCA 0.537000 OREG0025026 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 140 0 0 1 0 0 PEX1 5189 broad.mit.edu 37 7 92143197 92143197 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92143197G>A ENST00000248633.4 - 6 1419 c.1324C>T c.(1324-1326)Cca>Tca p.P442S PEX1_ENST00000438045.1_Missense_Mutation_p.P120S|PEX1_ENST00000428214.1_Missense_Mutation_p.P442S|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 442 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGAGATCTTGGAATTTTAGGG 0.323000 8 96 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97328321 97328321 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:97328321C>T ENST00000558553.1 + 3 319 c.170C>T c.(169-171)cCt>cTt p.P57L SPATA8_ENST00000328504.3_Silent_p.L98L Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 0 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GAGAAGTGTCCTGTTTCACCC 0.483000 20 95 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121973135 121973135 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121973135C>T ENST00000498619.1 + 2 537 c.99C>T c.(97-99)atC>atT p.I33I CASR_ENST00000296154.5_Silent_p.I33I|CASR_ENST00000490131.1_Silent_p.I33I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 33 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.I33I(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGGACATTATCCTTGGGGGGC 0.522000 10 116 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114082606 114082606 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:114082606G>A ENST00000276198.1 + 5 1118 c.390G>A c.(388-390)tgG>tgA p.W130* HTR2C_ENST00000371951.1_Nonsense_Mutation_p.W130*|HTR2C_ENST00000371950.3_Nonsense_Mutation_p.W130* NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 130 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GCCCCGTCTGGATTTCTTTAG 0.423000 22 78 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137226257 137226257 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:137226257T>G ENST00000508638.1 + 2 174 c.119T>G c.(118-120)aTa>aGa p.I40R PKD2L2_ENST00000350250.4_Intron|PKD2L2_ENST00000508883.1_Missense_Mutation_p.I40R|PKD2L2_ENST00000290431.5_Missense_Mutation_p.I40R|PKD2L2_ENST00000502810.1_Missense_Mutation_p.I40R NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 40 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATTTTTTTAATAAACCTATGT 0.289000 7 36 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19197881 19197881 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:19197881G>A ENST00000263200.10 - 20 3276 c.3204C>T c.(3202-3204)gcC>gcT p.A1068A CLTCL1_ENST00000353891.5_Silent_p.A1068A|CLTCL1_ENST00000427926.1_Silent_p.A1068A NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1068 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AAACGGTGAAGGCCTCCTCAT 0.547000 T ? ALCL 5 59 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842521 123842521 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123842521C>T ENST00000369005.1 + 4 846 c.506C>T c.(505-507)gCc>gTc p.A169V TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A169V|TACC2_ENST00000334433.3_Missense_Mutation_p.A169V|TACC2_ENST00000515273.1_Missense_Mutation_p.A169V|TACC2_ENST00000515603.1_Missense_Mutation_p.A169V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 169 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAGATTGCTGCCGTCCCCAGT 0.587000 4 26 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752394 15752394 + Missense_Mutation SNP C C T rs138587161 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15752394C>T ENST00000221307.7 + 2 217 c.169C>T c.(169-171)Cgg>Tgg p.R57W CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R57W NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 57 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ACCCCCGAAACGGAATTGGTT 0.622000 17 75 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 114990732 114990732 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:114990732G>A ENST00000334318.6 - 12 1354 c.1168C>T c.(1168-1170)Cga>Tga p.R390* PTBP3_ENST00000374255.2_Nonsense_Mutation_p.R387*|PTBP3_ENST00000343327.2_Nonsense_Mutation_p.R292*|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.R359*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.R393* NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 387 RRM 3. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding ATCTTCACTCGATGTACATCA 0.289000 4 23 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109459111 109459111 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:109459111C>T ENST00000356711.2 + 7 886 c.760C>T c.(760-762)Cag>Tag p.Q254* MYO16_ENST00000251041.5_Nonsense_Mutation_p.Q254*|MYO16_ENST00000357550.2_Nonsense_Mutation_p.Q254* NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 254 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AGTAGATGATCAGTACTGGAC 0.418000 4 38 0 0 1 0 0 COX6B2 125965 broad.mit.edu 37 19 55865857 55865857 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55865857C>T ENST00000593184.1 - 2 112 c.33G>A c.(31-33)aaG>aaA p.K11K COX6B2_ENST00000590900.1_Silent_p.K11K|COX6B2_ENST00000588572.1_Silent_p.K11K|COX6B2_ENST00000326529.4_Silent_p.K11K|CTD-2105E13.6_ENST00000591954.3_3'UTR Q6YFQ2 CX6B2_HUMAN cytochrome c oxidase subunit VIb polypeptide 2 (testis) 11 mitochondrial crista|mitochondrial intermembrane space cytochrome-c oxidase activity endometrium(1)|kidney(1)|lung(2)|pancreas(1) 5 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) ACCATTTCCCCTTGGGGGGCT 0.662000 20 217 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175086300 175086300 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175086300G>A ENST00000239462.4 + 10 2458 c.2345G>A c.(2344-2346)gGg>gAg p.G782E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 782 Fibronectin type-III 6. 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) GCCCAGAAGGGGGCCCAGGAG 0.577000 8 89 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76752138 76752138 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:76752138G>A ENST00000575389.2 + 2 147 c.147G>A c.(145-147)gaG>gaA p.E49E SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.E49E Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGGGCGAGGAGACCAGCGTGT 0.692000 5 17 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103340154 103340154 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:103340154G>A ENST00000370162.3 - 8 1708 c.1214C>T c.(1213-1215)gCc>gTc p.A405V POLL_ENST00000370169.1_Missense_Mutation_p.A405V|POLL_ENST00000370158.3_Missense_Mutation_p.A130V|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Missense_Mutation_p.A78V|POLL_ENST00000456836.2_Missense_Mutation_p.A142V|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000370172.1_Missense_Mutation_p.A317V|POLL_ENST00000339310.3_Missense_Mutation_p.A128V|POLL_ENST00000299206.4_Missense_Mutation_p.A405V 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 405 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) AGAGTTAAAGGCCTGGGCTGC 0.607000 DNA polymerases (catalytic subunits) 13 53 0 0 1 0 0 FADS2 9415 broad.mit.edu 37 11 61624528 61624528 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:61624528G>A ENST00000278840.4 + 6 1420 c.790G>A c.(790-792)Gaa>Aaa p.E264K FADS2_ENST00000521849.1_Missense_Mutation_p.E264K|FADS2_ENST00000257261.6_Missense_Mutation_p.E242K|FADS2_ENST00000522056.1_Missense_Mutation_p.E233K NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 264 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) TCACCAGCACGAATACTTCTT 0.567000 13 76 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031158 32031158 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:32031158C>T ENST00000360311.4 + 2 1136 c.587C>T c.(586-588)tCt>tTt p.S196F NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 CAAAGAATTTCTTCTAGGCCC 0.348000 7 54 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244544 56244544 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56244544G>A ENST00000332836.2 - 2 680 c.653C>T c.(652-654)tCc>tTc p.S218F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 218 NACHT. cytoplasm ATP binding p.S218F(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTCTGGCTGGGAAAAAATGTC 0.478000 4 23 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8234055 8234055 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:8234055T>G ENST00000520004.1 - 3 2128 c.1864A>C c.(1864-1866)Agg>Cgg p.R622R SGK223_ENST00000330777.4_Silent_p.R622R Q86YV5 SG223_HUMAN 622 ATP binding|non-membrane spanning protein tyrosine kinase activity CTGGGCCGCCTCTGTTCCGAG 0.632000 4 58 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193160188 193160188 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:193160188C>T ENST00000342695.4 - 19 2632 c.2310G>A c.(2308-2310)ggG>ggA p.G770G ATP13A4_ENST00000392443.3_Silent_p.G751G NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 770 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GTACCTGATTCCCATACATAA 0.438000 8 37 0 0 1 0 0 TNFSF8 944 broad.mit.edu 37 9 117692467 117692467 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:117692467G>A ENST00000223795.2 - 1 230 c.117C>T c.(115-117)ttC>ttT p.F39F NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 39 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 TGGTCAAATAGAAATAGCTGC 0.592000 35 77 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69639974 69639974 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:69639974C>T ENST00000374403.3 + 31 3640 c.3558C>T c.(3556-3558)tcC>tcT p.S1186S NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 1186 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CAGCTCCCTCCCCTTTTGACC 0.493000 3 37 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412108 51412108 + Missense_Mutation SNP C C T rs148710182 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:51412108C>T ENST00000319760.6 - 1 340 c.288G>A c.(286-288)atG>atA p.M96I NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M96I(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ATAGCTGGCCCATGCAACCTT 0.448000 6 61 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490034 42490034 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42490034G>A ENST00000545399.1 - 6 780 c.627C>T c.(625-627)atC>atT p.I209I ATP1A3_ENST00000602133.1_Silent_p.I166I|ATP1A3_ENST00000543770.1_Silent_p.I207I|ATP1A3_ENST00000302102.5_Silent_p.I196I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 196 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CGTGGGCTGAGATGATCCGCA 0.662000 12 113 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731372 92731372 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92731372G>A ENST00000379958.2 - 3 4308 c.4039C>T c.(4039-4041)Ctc>Ttc p.L1347F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1347 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TATTCCAAGAGCCCAGAAAAC 0.368000 30 59 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39341729 39341729 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:39341729C>T ENST00000263408.4 - 3 352 c.257G>A c.(256-258)cGa>cAa p.R86Q C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 86 TSP type-1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CACACACTGTCGTCTGTCTCC 0.453000 17 48 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35425659 35425659 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:35425659G>A ENST00000287272.2 + 3 386 c.366G>A c.(364-366)caG>caA p.Q122Q UNC5D_ENST00000404895.2_Silent_p.Q122Q|UNC5D_ENST00000453357.2_Silent_p.Q117Q|UNC5D_ENST00000420357.1_Silent_p.Q122Q|UNC5D_ENST00000416672.1_Silent_p.Q122Q Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 122 Ig-like. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTAGGCAACAGGTGGAGGACT 0.527000 19 150 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72866468 72866468 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:72866468C>T ENST00000296792.4 + 6 860 c.605C>T c.(604-606)tCc>tTc p.S202F UTP15_ENST00000508491.1_Missense_Mutation_p.S183F|UTP15_ENST00000543251.1_Missense_Mutation_p.S12F NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 202 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AGTGTTCTCTCCGTTGAGCAT 0.403000 6 72 0 0 1 0 0 SMIM21 284274 broad.mit.edu 37 18 73130745 73130745 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:73130745G>A ENST00000584508.1 - 2 374 c.256C>T c.(256-258)Cga>Tga p.R86* SMIM21_ENST00000579022.1_Nonsense_Mutation_p.R86*|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron small integral membrane protein 21 acctactttcgaaatatgctg 0.353000 12 75 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130284686 130284686 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:130284686G>A ENST00000257359.6 - 5 2012 c.1306C>T c.(1306-1308)Ccc>Tcc p.P436S NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 436 YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806). negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AGGCCTGTGGGGAGGGGCAGG 0.652000 16 35 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74419267 74419267 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:74419267T>A ENST00000429990.1 + 3 373 c.277T>A c.(277-279)Tct>Act p.S93T nuclear pore complex interacting protein family, member B15 TATCTTCTGGTCTCGAAATGG 0.478000 5 107 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027958 92027958 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92027958C>T ENST00000265742.3 + 20 3341 c.2965C>T c.(2965-2967)Cct>Tct p.P989S NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 989 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCCCTGATTCCTCCAGCAAC 0.498000 5 86 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961413 34961413 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:34961413C>T ENST00000329357.5 + 1 501 c.465C>T c.(463-465)ccC>ccT p.P155P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 155 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 AGCTGGATCCCGAGAGGAAGC 0.562000 8 16 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76470846 76470846 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:76470846A>G ENST00000396423.2 + 7 921 c.797A>G c.(796-798)gAa>gGa p.E266G HNF4G_ENST00000354370.1_Missense_Mutation_p.E229G NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 229 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CCATTTCAAGAAATCCAGATT 0.358000 14 176 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265493 10265493 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10265493C>T ENST00000418404.3 - 4 610 c.447G>A c.(445-447)caG>caA p.Q149Q MYH13_ENST00000570743.1_Silent_p.Q149Q|MYH13_ENST00000252172.4_Silent_p.Q149Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 149 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCGGGGCCTCCTGGCGCTTTT 0.517000 25 120 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118891747 118891747 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:118891747G>A ENST00000277905.2 - 4 778 c.534C>T c.(532-534)tcC>tcT p.S178S NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 0 nucleus sequence-specific DNA binding p.S178S(1) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CTCTGCCCCCGGAGTCCCCAC 0.517000 7 51 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14716842 14716842 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:14716842G>A ENST00000284268.6 - 9 1444 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W ANKH_ENST00000535119.1_Missense_Mutation_p.R174W NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 372 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GAGAAGATCCGCAAAGGAACA 0.408000 3 37 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81372946 81372946 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:81372946G>A ENST00000398636.3 + 5 432 c.292_splice c.e5-1 p.G98_splice SFTPA1_ENST00000428376.2_Splice_Site_p.G98_splice|SFTPA1_ENST00000372308.3_Splice_Site_p.G98_splice|SFTPA1_ENST00000372313.5_Splice_Site_p.G39_splice|SFTPA1_ENST00000419470.2_Splice_Site_p.G113_splice NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 98 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCTCCACAGGGCTTCCAGCTC 0.582000 8 109 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47736562 47736562 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:47736562G>T ENST00000371828.3 - 9 1332 c.845C>A c.(844-846)cCg>cAg p.P282Q STAU1_ENST00000371792.1_Missense_Mutation_p.P274Q|STAU1_ENST00000360426.4_Missense_Mutation_p.P276Q|STAU1_ENST00000371802.1_Missense_Mutation_p.P282Q|STAU1_ENST00000347458.5_Missense_Mutation_p.P276Q|STAU1_ENST00000371856.2_Missense_Mutation_p.P357Q|STAU1_ENST00000340954.7_Missense_Mutation_p.P276Q NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 357 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) CTGCGCCTGCGGGACTTTGAA 0.562000 4 37 0.00909568 0.00912245 1 1 0 SHC3 53358 broad.mit.edu 37 9 91661873 91661873 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:91661873C>T ENST00000375835.4 - 8 1305 c.999G>A c.(997-999)gaG>gaA p.E333E SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 333 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 AGCCATCTCCCTCCTCTTCCG 0.488000 9 80 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168352229 168352229 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:168352229C>T ENST00000366806.2 + 30 4316 c.4174C>T c.(4174-4176)Cct>Tct p.P1392S MLLT4_ENST00000351017.4_Missense_Mutation_p.P1399S|MLLT4_ENST00000447894.2_Missense_Mutation_p.P1392S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P1391S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P1392S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P1375S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P1392S P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1392 Pro-rich. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CCCACCACCCCCTTCCGCCAA 0.597000 T MLL AL 17 169 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60813721 60813721 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:60813721C>T ENST00000544856.2 - 7 1883 c.1505G>A c.(1504-1506)gGa>gAa p.G502E MARCH10_ENST00000456609.2_Missense_Mutation_p.G503E|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.G503E|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.G541E|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 503 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CCCTGAGTTTCCCTCTGAGTC 0.433000 7 79 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455231 84455231 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:84455231C>T ENST00000377084.2 - 1 1297 c.412G>A c.(412-414)Gat>Aat p.D138N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 138 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AAATTAAAATCAGCCTGGAGA 0.463000 27 66 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039766 73039766 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:73039766G>A ENST00000335350.6 + 2 684 c.268G>A c.(268-270)Gac>Aac p.D90N UNC5B_ENST00000373192.4_Missense_Mutation_p.D90N NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 90 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CAGCCAGAACGACCACGTCAC 0.647000 7 79 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2150297 2150297 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:2150297G>A ENST00000262304.4 - 28 9790 c.9582C>T c.(9580-9582)gcC>gcT p.A3194A PKD1_ENST00000423118.1_Silent_p.A3194A NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3194 PLAT. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCAGGAACCAGGCAGGGCTGA 0.677000 8 130 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77728098 77728098 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:77728098G>A ENST00000353172.5 - 2 353 c.309C>T c.(307-309)atC>atT p.I103I KCTD14_ENST00000533144.1_Silent_p.I73I|NDUFC2-KCTD14_ENST00000528251.1_3'UTR|NDUFC2-KCTD14_ENST00000530054.1_3'UTR NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 103 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) ACACTTCAGGGATGTGCTGTG 0.582000 6 36 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96706854 96706854 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:96706854C>T ENST00000542454.2 + 3 3196 c.108C>T c.(106-108)ttC>ttT p.F36F RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.F36F|BDKRB2_ENST00000306005.3_Silent_p.F63F|BDKRB2_ENST00000554311.1_Silent_p.F63F P30411 BKRB2_HUMAN bradykinin receptor B2 63 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) AGCCCCCCTTCCTCTGGGTGC 0.592000 12 131 0 0 1 0 0 DHRS3 9249 broad.mit.edu 37 1 12639390 12639390 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12639390C>T ENST00000376223.2 - 3 773 c.390G>A c.(388-390)aaG>aaA p.K130K NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 130 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCATTAGGCTCTTCCCATGGA 0.632000 14 61 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71216688 71216688 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:71216688G>A ENST00000554752.2 - 4 1111 c.1112C>T c.(1111-1113)cCt>cTt p.P371L MAP3K9_ENST00000554146.1_Missense_Mutation_p.P108L|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P371L|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P371L|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P65L P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 371 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCACGTAGAAGGAATAGGAAG 0.507000 12 56 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74320213 74320213 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:74320213G>A ENST00000355773.5 - 9 1437 c.1169C>T c.(1168-1170)tCt>tTt p.S390F SLC17A5_ENST00000393019.3_Intron NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 390 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AACGGCCAAAGAATAATCACA 0.418000 21 118 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834966 61834966 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:61834966C>T ENST00000370339.3 - 4 667 c.326G>A c.(325-327)gGg>gAg p.G109E YTHDF1_ENST00000370333.4_Missense_Mutation_p.G59E|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 109 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CCCCAGGCCCCCAGGCTGCCC 0.532000 15 79 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133152358 133152358 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:133152358C>T ENST00000388996.4 - 11 1953 c.1533G>A c.(1531-1533)atG>atA p.M511I KCNQ3_ENST00000519445.1_Missense_Mutation_p.M511I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.M391I NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 511 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTGGGGATCATGTCTTCGA 0.632000 8 44 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33745632 33745632 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:33745632G>A ENST00000403687.3 + 6 989 c.249G>A c.(247-249)ctG>ctA p.L83L RASGRP3_ENST00000402538.3_Silent_p.L83L|RASGRP3_ENST00000407811.1_Silent_p.L83L NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 83 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) ACTGGATTCTGAAGTTTCCTG 0.388000 40 187 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55080521 55080521 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55080521C>T ENST00000302250.2 - 4 587 c.427G>A c.(427-429)Gac>Aac p.D143N FAM151A_ENST00000371304.2_Missense_Mutation_p.D143N|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 143 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TTCTTGAAGTCCAGTTTGATG 0.567000 8 39 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811262 45811262 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45811262G>A ENST00000397928.1 + 11 1993 c.1548G>A c.(1546-1548)tgG>tgA p.W516* TRPM2_ENST00000397932.2_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.W516*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.W516*|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 516 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTGTCACCTGGGACACCTTGC 0.587000 16 102 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18852748 18852748 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:18852748C>T ENST00000266505.7 - 10 1417 c.1154G>A c.(1153-1155)cGa>cAa p.R385Q PLCZ1_ENST00000435379.1_Missense_Mutation_p.R190Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R192Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.R167Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R248Q|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R383Q Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 385 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TGAAAGTTTTCGGGCTTGTGT 0.313000 5 35 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161123349 161123349 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161123349G>A ENST00000308192.9 + 1 76 c.13G>A c.(13-15)Gaa>Aaa p.E5K PLG_ENST00000462918.1_3'UTR|PLG_ENST00000366924.2_Missense_Mutation_p.E5K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 5 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGAACATAAGGAAGTGGTTCT 0.368000 9 79 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30066847 30066847 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:30066847G>A ENST00000331968.5 - 16 2513 c.2284C>T c.(2284-2286)Cgc>Tgc p.R762C PRKD1_ENST00000415220.2_Missense_Mutation_p.R770C NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 762 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCTAGAGAGCGATTGTAGCCC 0.493000 16 82 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93605266 93605266 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:93605266G>A ENST00000394236.3 - 11 1553 c.1237C>T c.(1237-1239)Ctt>Ttt p.L413F PROS1_ENST00000407433.1_Missense_Mutation_p.L282F NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 413 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.L413I(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GGCTTAAAAAGGGGTCCAGGT 0.363000 33 141 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57347148 57347148 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57347148G>A ENST00000361249.3 + 5 591 c.495G>A c.(493-495)caG>caA p.Q165Q NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 165 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 AAGATGCTCAGAGTGTGTACG 0.478000 20 131 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33559750 33559750 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:33559750C>T ENST00000265371.4 - 4 808 c.283G>A c.(283-285)Gaa>Aaa p.E95K NRP1_ENST00000374867.2_Missense_Mutation_p.E95K|NRP1_ENST00000395995.1_Missense_Mutation_p.E95K|NRP1_ENST00000374823.5_Missense_Mutation_p.E95K|NRP1_ENST00000374816.3_Missense_Mutation_p.E95K|NRP1_ENST00000374821.5_Missense_Mutation_p.E95K|NRP1_ENST00000374822.4_Missense_Mutation_p.E95K O14786 NRP1_HUMAN neuropilin 1 95 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TGTCCATTTTCATTTTCTCCA 0.373000 14 40 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169663814 169663814 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:169663814C>T ENST00000483289.2 - 0 3480 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 CCAGGATTGTCCTTCATAGGC 0.498000 5 145 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185500 41185500 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:41185500G>A ENST00000564680.1 - 0 185 GAATCATGGTGATTTTGAAGA 0.473000 4 30 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78487013 78487013 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:78487013G>A ENST00000258873.4 - 3 493 c.288C>T c.(286-288)ccC>ccT p.P96P ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 96 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GTGGGCAGCTGGGGTCTATGC 0.632000 20 129 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28914391 28914391 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:28914391G>A ENST00000395503.4 + 20 2969 c.2785G>A c.(2785-2787)Gtg>Atg p.V929M ATP2A1_ENST00000536376.1_Missense_Mutation_p.V804M|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V929M NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 929 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GCCACCCTGGGTGAACATCTG 0.632000 20 124 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347079 48347079 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48347079C>T ENST00000319856.4 + 1 608 c.587C>T c.(586-588)cCc>cTc p.P196L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTCTGTGGGCCCAATGTGATC 0.532000 7 84 0 0 1 0 0 RP3-368A4.5 0 broad.mit.edu 37 X 73423404 73423404 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73423404G>A ENST00000603037.1 - 0 556 GCAGCTAAACGAAATCAATGT 0.448000 3 4 0 0 1 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010313 24010313 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:24010313G>A ENST00000496398.1 + 4 773 c.350G>A c.(349-351)tGg>tAg p.W117* RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Nonsense_Mutation_p.W117* endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 GCAGCCTTCTGGGAGCCACGG 0.562000 4 38 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 120382598 120382598 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:120382598C>T ENST00000331113.4 + 4 2374 c.1409C>T c.(1408-1410)tCc>tTc p.S470F NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 470 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GTTAGCAAATCCGGCTCCAGC 0.478000 16 151 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111303384 111303384 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:111303384A>G ENST00000257347.4 - 10 1114 c.1051T>C c.(1051-1053)Tca>Cca p.S351P CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 351 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GGCTCACCTGAGCGGTAGCTG 0.562000 7 82 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520110 23520110 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:23520110G>A ENST00000374619.1 - 1 1112 c.603C>T c.(601-603)tcC>tcT p.S201S HTR1D_ENST00000314113.3_Silent_p.S201S NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 201 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CCCCACAGGTGGAGTAGATGG 0.592000 25 56 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92251698 92251698 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:92251698G>A ENST00000435962.2 - 11 1493 c.1170C>T c.(1168-1170)ttC>ttT p.F390F TC2N_ENST00000340892.5_Silent_p.F390F|TC2N_ENST00000556018.1_Silent_p.F326F|TC2N_ENST00000360594.5_Silent_p.F390F NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 390 C2. nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CCACCTTCACGAAAAAACCTA 0.323000 12 158 0 0 1 0 0 STK39 27347 broad.mit.edu 37 2 169023840 169023840 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:169023840T>C ENST00000355999.4 - 3 1104 c.399A>G c.(397-399)gaA>gaG p.E133E NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 133 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 CCAGCCAAAGTTCATCTTTGA 0.378000 4 39 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655635 40655635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40655635C>T ENST00000406785.1 - 2 1975 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K SLC8A1_ENST00000408028.2_Missense_Mutation_p.E596K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E596K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E596K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E596K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E596K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E596K P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 596 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTCTGGAATTCGAGCTCTCCA 0.423000 5 28 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45393034 45393034 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:45393034G>A ENST00000389039.6 - 23 3309 c.2924C>T c.(2923-2925)tCc>tTc p.S975F DUOX2_ENST00000603300.1_Missense_Mutation_p.S975F Q9NRD8 DUOX2_HUMAN dual oxidase 2 975 Interaction with TXNDC11 (By similarity). 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) CTGGGGGTGGGAGCTGAGAAA 0.597000 6 66 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96104197 96104197 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:96104197G>A ENST00000278520.5 - 6 1617 c.1189C>T c.(1189-1191)Cgt>Tgt p.R397C CCDC82_ENST00000542662.1_Missense_Mutation_p.R397C|CCDC82_ENST00000423339.2_Missense_Mutation_p.R397C Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 397 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) TCTTTCCAACGACTTCTAGAT 0.398000 11 53 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101168367 101168367 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:101168367A>C ENST00000259455.2 - 8 1752 c.1293T>G c.(1291-1293)ttT>ttG p.F431L NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 431 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GCCTACCTTGAAATTGAGTAA 0.313000 9 38 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76826570 76826570 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76826570T>C ENST00000278559.3 + 6 1018 c.829T>C c.(829-831)Ttg>Ctg p.L277L CAPN5_ENST00000456580.2_Silent_p.L317L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.L277L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 277 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GTCAGAGAAGTTGGACATGAT 0.662000 9 36 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105563561 105563561 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:105563561G>A ENST00000314641.5 - 7 1174 c.958_splice c.e7+1 p.H320_splice BVES_ENST00000446408.2_Splice_Site_p.H320_splice|BVES_ENST00000336775.5_Splice_Site_p.H320_splice NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 320 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GATAACTTACGAAGAGAGGAC 0.443000 16 66 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389170 20389170 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20389170C>T ENST00000315915.4 + 1 430 c.405C>T c.(403-405)atC>atT p.I135I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I135I(1) 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) ATGTGGTCATCATGAGCCGAA 0.443000 18 456 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151160871 151160871 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:151160871A>G ENST00000282466.3 - 5 5863 c.5864T>C c.(5863-5865)tTt>tCt p.F1955S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1955 Ig-like C2-type 6. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTGTCCCCAAAATTCACTTC 0.507000 4 112 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79317679 79317679 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:79317679C>T ENST00000419573.3 - 10 1793 c.1519G>A c.(1519-1521)Gga>Aga p.G507R RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.G507R NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 507 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGCTTCCCTCCAGAGCCTCTG 0.587000 8 47 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726290 63726290 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:63726290C>T ENST00000421025.1 + 5 548 c.279C>T c.(277-279)ttC>ttT p.F93F ZNF679_ENST00000255746.4_Silent_p.F93F NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GTTCTCATTTCACCCAAGACC 0.318000 6 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179445076 179445076 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179445076C>T ENST00000589042.1 - 317 67254 c.67030G>A c.(67030-67032)Gaa>Aaa p.E22344K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13279K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13404K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20703K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13471K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19776K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20703 Fibronectin type-III 62. 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) ATGGTATATTCCTTTTTACCA 0.299000 8 130 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 98002504 98002504 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:98002504C>T ENST00000224337.5 - 3 291 c.150G>A c.(148-150)agG>agA p.R50R BLNK_ENST00000495266.1_Silent_p.R50R|BLNK_ENST00000427367.2_Silent_p.R50R|BLNK_ENST00000371176.2_Silent_p.R50R|BLNK_ENST00000413476.2_Silent_p.R50R NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 50 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) AAGCGTAGTCCCTTCGAGGAA 0.398000 17 59 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31378929 31378929 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31378929G>A ENST00000449934.2 + 3 460 c.406G>A c.(406-408)Gat>Aat p.D136N HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 136 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) TTTCTACTACGATGGGGAGCT 0.547000 9 33 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34033266 34033266 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34033266G>A ENST00000373381.4 - 53 8483 c.8307C>T c.(8305-8307)ttC>ttT p.F2769F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2746 Sushi 18. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGATCAGGCGGAAGCCAGCAT 0.557000 10 44 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157773657 157773657 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:157773657C>T ENST00000358292.3 - 3 348 c.297G>A c.(295-297)agG>agA p.R99R FCRL1_ENST00000491942.1_Silent_p.R99R|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.R99R NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 99 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTGGGATCTCCTGCTCCTCA 0.547000 11 63 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40129047 40129047 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:40129047C>T ENST00000235628.1 - 4 492 c.493G>A c.(493-495)Gcc>Acc p.A165T NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 165 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GTGTGATAGGCCTTGAGGTAG 0.527000 7 60 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112785 59112785 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:59112785T>G ENST00000395153.3 + 4 1480 c.1333T>G c.(1333-1335)Tca>Gca p.S445A DACT1_ENST00000556859.1_Missense_Mutation_p.S201A|DACT1_ENST00000335867.4_Missense_Mutation_p.S482A|DACT1_ENST00000541264.2_Missense_Mutation_p.S201A|DACT1_ENST00000395151.3_Missense_Mutation_p.S201A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 482 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CGCTCAGCTCTCAGGGGCCTC 0.567000 25 91 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88703314 88703314 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:88703314C>T ENST00000372027.4 - 6 1300 c.1227G>A c.(1225-1227)gtG>gtA p.V409V NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 409 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TGATCTCATCCACGTGCCGGG 0.602000 10 70 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2503215 2503215 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:2503215C>T ENST00000397066.4 + 14 1580 c.1492C>T c.(1492-1494)Cat>Tat p.H498Y NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 498 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) TTCCAGCTTCCATGATGACGC 0.532000 12 59 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832469 24832469 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:24832469C>T ENST00000376451.2 + 14 3579 c.3319C>T c.(3319-3321)Ccc>Tcc p.P1107S KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1424S|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron Q5T5P2 SKT_HUMAN KIAA1217 1424 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGAGATGACCCCCCGACAAGA 0.493000 5 37 0 0 1 0 0 RGS4 5999 broad.mit.edu 37 1 163044135 163044135 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:163044135G>A ENST00000421743.2 + 6 854 c.694G>A c.(694-696)Gaa>Aaa p.E232K RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.E135K|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367906.3_Missense_Mutation_p.E117K|RGS4_ENST00000527809.1_Missense_Mutation_p.E117K|RGS4_ENST00000367908.4_Missense_Mutation_p.G79E NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 135 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.E135K(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 TTGCACCAGGGAAGAGACAAG 0.493000 33 188 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093988 40093988 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40093988G>A ENST00000299092.3 - 4 1088 c.890C>T c.(889-891)tCc>tTc p.S297F GPR176_ENST00000543580.1_Missense_Mutation_p.S253F|GPR176_ENST00000561100.1_Missense_Mutation_p.S298F NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 298 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CAAGAAGACGGAAGTGTCAGG 0.537000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 33 0 0 1 0 0 PHACTR2 9749 broad.mit.edu 37 6 144081764 144081764 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:144081764G>A ENST00000427704.2 + 5 778 c.648G>A c.(646-648)acG>acA p.T216T PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Silent_p.T227T|PHACTR2_ENST00000305766.6_Intron NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 216 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GCCGAAACACGACCCGAGAGG 0.567000 6 58 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4724929 4724929 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:4724929C>T ENST00000545990.2 - 6 3062 c.2538G>A c.(2536-2538)ctG>ctA p.L846L AKAP3_ENST00000228850.1_Silent_p.L846L NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 846 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TCAGCCAGTCCAGCAGCTGCA 0.602000 7 72 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82322052 82322052 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:82322052G>A ENST00000376520.4 + 12 1779 c.951G>A c.(949-951)ggG>ggA p.G317G TLE4_ENST00000376552.2_Intron|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.G317G O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGGATATGGGGAAATTGAGTG 0.373000 19 76 0 0 1 0 0 VAMP3 9341 broad.mit.edu 37 1 7837362 7837362 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:7837362G>A ENST00000054666.6 + 3 330 c.215G>A c.(214-216)tGg>tAg p.W72* VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W44* NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 72 v-SNARE coiled-coil homology. cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) AGGAAATATTGGTGGAAGAAT 0.443000 5 25 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347241 71347241 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:71347241C>T ENST00000413702.1 + 4 1068 c.780C>T c.(778-780)gtC>gtT p.V260V MUC7_ENST00000456088.1_Silent_p.V260V|MUC7_ENST00000304887.5_Silent_p.V260V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 260 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCACAGCTGTCCCACCCACAC 0.592000 27 107 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194117579 194117579 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:194117579G>A ENST00000401815.1 - 1 1504 c.1433C>T c.(1432-1434)cCg>cTg p.P478L GP5_ENST00000323007.3_Missense_Mutation_p.P478L P40197 GPV_HUMAN glycoprotein V (platelet) 478 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) gcggggaggcgggccccgggg 0.781000 14 39 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91769874 91769874 + Silent SNP C C T rs148654261 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:91769874C>T ENST00000394232.1 + 2 851 c.381C>T c.(379-381)ttC>ttT p.F127F SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 127 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGAAGTGTTCGTGGTGAGTT 0.512000 4 53 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37586469 37586469 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:37586469C>T ENST00000399151.3 + 8 1080 c.995C>T c.(994-996)tCc>tTc p.S332F NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 332 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAAAAATACTCCAAGGATCTT 0.398000 5 56 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137674548 137674548 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:137674548G>A ENST00000371817.3 + 29 2880 c.2466G>A c.(2464-2466)atG>atA p.M822I NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 822 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AAGGAGACATGGGCATCAAGG 0.597000 12 139 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48643238 48643238 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:48643238G>A ENST00000263274.7 - 12 1496 c.1077C>T c.(1075-1077)gcC>gcT p.A359A LIG1_ENST00000536218.1_Silent_p.A291A|LIG1_ENST00000427526.2_Silent_p.A328A NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 359 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTGTGGCCTGGGCCACTGCCT 0.612000 Nucleotide excision repair (NER) 16 115 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342456 40342456 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40342456G>A ENST00000406785.1 - 8 2940 c.2751C>T c.(2749-2751)ctC>ctT p.L917L SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.L945L|SLC8A1_ENST00000406391.2_Silent_p.L917L|SLC8A1_ENST00000405901.3_Silent_p.L948L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.L917L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.L953L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.L917L|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.L953L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.L948L|SLC8A1_ENST00000542024.1_Silent_p.L917L|SLC8A1-AS1_ENST00000444629.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 953 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGAGCCATAGGAGCACAAAGA 0.493000 4 59 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72921280 72921280 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:72921280G>A ENST00000553530.1 + 4 436 c.229G>A c.(229-231)Gac>Aac p.D77N RGS6_ENST00000402788.2_Missense_Mutation_p.D77N|RGS6_ENST00000355512.6_Missense_Mutation_p.D77N|RGS6_ENST00000555571.1_Missense_Mutation_p.D77N|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.D77N|RGS6_ENST00000553525.1_Missense_Mutation_p.D77N|RGS6_ENST00000556437.1_Missense_Mutation_p.D77N|RGS6_ENST00000407322.4_Missense_Mutation_p.D77N|RGS6_ENST00000434263.2_Missense_Mutation_p.D8N|RGS6_ENST00000404301.2_Missense_Mutation_p.D77N|RGS6_ENST00000343854.6_Missense_Mutation_p.D77N NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 77 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TTCCATTGAGGACCCAGGTAC 0.478000 13 63 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11485851 11485851 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:11485851C>T ENST00000423059.3 - 13 3152 c.2901G>A c.(2899-2901)ggG>ggA p.G967G AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 967 TSP type-1 10. 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) CTGACCAGTTCCCCACAGGTT 0.398000 HNSCC(18;0.044) 26 138 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597992 179597992 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179597992G>A ENST00000589042.1 - 54 16252 c.16028C>T c.(16027-16029)tCc>tTc p.S5343F TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5026F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4099F|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5026 Ig-like 34. 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) AGTCTCACAGGAGCTGCTGCC 0.388000 10 82 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168575 50168575 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:50168575G>A ENST00000284509.6 - 25 3068 c.2927C>T c.(2926-2928)gCc>gTc p.A976V ATP8B4_ENST00000559829.1_Missense_Mutation_p.A976V NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 976 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GTTGTAAAAGGCCCCATAGGG 0.453000 10 58 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247751667 247751667 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247751667G>A ENST00000320065.1 + 1 6 c.6G>A c.(4-6)ggG>ggA p.G2G 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 2 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) TACATATGGGGATGGTGAGAC 0.418000 8 73 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31598279 31598279 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:31598279G>A ENST00000379416.3 - 15 1617 c.1569C>T c.(1567-1569)gtC>gtT p.V523V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 523 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GCTTCTGAAGGACTGTCAGGT 0.577000 23 102 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82446516 82446516 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82446516T>C ENST00000370717.2 + 18 3355 c.3139T>C c.(3139-3141)Tta>Cta p.L1047L LPHN2_ENST00000370727.1_Silent_p.L1047L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000271029.4_Silent_p.L1047L|LPHN2_ENST00000394879.1_Silent_p.L1034L|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370725.1_Silent_p.L1047L|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370723.1_Silent_p.L1034L|LPHN2_ENST00000370715.1_Intron O95490 LPHN2_HUMAN latrophilin 2 1034 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) TAATACGGACTTACCTGGGTA 0.338000 10 121 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440244 104440244 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:104440244A>T ENST00000372582.1 + 3 926 c.170A>T c.(169-171)tAc>tTc p.Y57F IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y57F NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 57 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCCCTTTTCTACAGTTATATT 0.458000 14 45 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138602780 138602780 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138602780G>A ENST00000440172.1 - 2 1640 c.1592C>T c.(1591-1593)cCg>cTg p.P531L KIAA1549_ENST00000242365.4_Missense_Mutation_p.P481L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P531L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 531 Ser-rich. integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 AAGTGACGCCGGCACAGAGAG 0.542000 O BRAF pilocytic astrocytoma 3 12 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3907914 3907914 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3907914G>A ENST00000450849.2 + 5 1008 c.541G>A c.(541-543)Gga>Aga p.G181R ATCAY_ENST00000398448.3_Missense_Mutation_p.G187R|ATCAY_ENST00000301260.6_Missense_Mutation_p.G181R|ATCAY_ENST00000600960.1_Missense_Mutation_p.G181R NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 181 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) GGTCACCCACGGAGGTGAGAC 0.657000 3 20 0 0 1 0 0 HAO1 54363 broad.mit.edu 37 20 7866458 7866458 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:7866458G>A ENST00000378789.3 - 6 918 c.867C>T c.(865-867)ttC>ttT p.F289F NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 289 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCCCGTCCAGGAAGACTTCCA 0.493000 20 108 0 0 1 0 0 NUDC 10726 broad.mit.edu 37 1 27269230 27269230 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27269230C>T ENST00000321265.5 + 5 632 c.509C>T c.(508-510)cCc>cTc p.P170L NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 170 CS. cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) GCAGACCTGCCCAATTACCGC 0.557000 12 37 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649369 75649369 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:75649369G>A ENST00000361470.2 + 1 1324 c.1046G>A c.(1045-1047)gGt>gAt p.G349D NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 349 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCCACTCCCGGTGAGGGACCA 0.697000 9 24 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816275 156816275 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156816275C>T ENST00000347377.6 + 29 3717 c.3286C>T c.(3286-3288)Ctg>Ttg p.L1096L CYFIP2_ENST00000541131.1_Silent_p.L1021L|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Silent_p.L900L|CYFIP2_ENST00000521420.1_Silent_p.L1070L|CYFIP2_ENST00000318218.6_Silent_p.L1121L|CYFIP2_ENST00000435847.2_Silent_p.L795L|CYFIP2_ENST00000377576.3_Silent_p.L1096L NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1121 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGAGGTCATCCTGACCCGCAT 0.617000 5 39 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45316359 45316359 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:45316359C>T ENST00000313237.5 - 3 282 c.132G>A c.(130-132)acG>acA p.T44T PHF21B_ENST00000447824.3_Silent_p.T32T|PHF21B_ENST00000396103.3_Silent_p.T44T|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Silent_p.T32T NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 44 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CTGCAGTGATCGTTCCCAAAG 0.637000 3 14 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258407 56258407 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56258407G>A ENST00000327216.2 - 1 464 c.440C>T c.(439-441)cCt>cTt p.P147L NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 147 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) ATACACATAAGGCACCGTGAT 0.527000 16 60 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616708 77616708 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77616708G>A ENST00000521891.2 + 2 833 c.385G>A c.(385-387)Ggg>Agg p.G129R ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G129R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G129R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G129R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 129 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATCTAACAGGGGAGATCGT 0.493000 HNSCC(33;0.089) 15 56 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109384259 109384259 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:109384259C>T ENST00000283195.6 + 20 7390 c.7264C>T c.(7264-7266)Cgt>Tgt p.R2422C NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2422 RanBD1 3. 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 TTTAGCTGTTCGTTTTAAACT 0.368000 11 277 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137642638 137642638 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:137642638C>T ENST00000371817.3 + 13 1986 c.1572C>T c.(1570-1572)ttC>ttT p.F524F NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 524 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACTTGCAGTTCCGGTTTGGAG 0.632000 3 29 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077663 19077663 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:19077663G>A ENST00000329773.2 - 2 374 c.287C>T c.(286-288)tCc>tTc p.S96F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 96 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GATGGAGATGGAACAGAAGAA 0.547000 12 79 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36080267 36080267 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:36080267G>A ENST00000360731.3 + 4 1564 c.1564G>A c.(1564-1566)Gct>Act p.A522T CLIC6_ENST00000349499.2_Missense_Mutation_p.A504T Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 522 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 GCAGAACCTGGCTCCCGGAAC 0.522000 7 67 0 0 1 0 0 CERS2 29956 broad.mit.edu 37 1 150939604 150939604 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:150939604G>A ENST00000271688.6 - 8 1073 c.687C>T c.(685-687)atC>atT p.I229I CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.I220I|CERS2_ENST00000368954.5_Silent_p.I229I NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 229 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TCCCAGCTCGGATGTAATTGG 0.512000 7 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9080501 9080501 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9080501C>T ENST00000397910.4 - 2 9733 c.9530G>A c.(9529-9531)gGa>gAa p.G3177E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3178 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A3175fs*111(1) 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 CGTGGAATTTCCTTGTGCTGC 0.498000 6 119 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103322324 103322324 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103322324G>A ENST00000233969.2 + 11 2139 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 666 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCAACCTCCCGATATTTATCC 0.303000 5 35 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712476 121712476 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121712476G>A ENST00000273691.3 - 6 1093 c.988C>T c.(988-990)Cct>Tct p.P330S ILDR1_ENST00000344209.5_Missense_Mutation_p.P374S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P285S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P342S NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 374 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TGGAAATCAGGGTAATGGTGG 0.597000 4 62 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121625524 121625524 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:121625524G>A ENST00000275159.6 - 8 921 c.922C>T c.(922-924)Cgt>Tgt p.R308C TBC1D32_ENST00000398212.2_Missense_Mutation_p.R308C TBC1 domain family, member 32 TCTGGATGACGAATCCAGAAA 0.398000 11 48 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21050577 21050577 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:21050577G>A ENST00000375031.1 - 6 1170 c.547_splice c.e6+1 p.A182_splice SH2D5_ENST00000444387.2_Splice_Site_p.A266_splice|SH2D5_ENST00000460804.1_5'UTR NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 182 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) ACAACTCACAGGCCTCCCGAG 0.662000 5 60 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508123 106508123 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:106508123C>T ENST00000359195.3 + 2 427 c.117C>T c.(115-117)ccC>ccT p.P39P PIK3CG_ENST00000496166.1_Silent_p.P39P|PIK3CG_ENST00000440650.2_Silent_p.P39P NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 39 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGCTCATCCCCATCGAGTTCG 0.652000 8 87 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52862859 52862859 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:52862859C>T ENST00000252250.6 - 9 1729 c.1682G>A c.(1681-1683)aGc>aAc p.S561N NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 561 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GTGCTTGTAGCTCTTCCTGCT 0.602000 6 84 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617668 77617668 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77617668A>G ENST00000521891.2 + 2 1793 c.1345A>G c.(1345-1347)Aaa>Gaa p.K449E ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K449E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K449E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K449E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 449 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGAAAGGCCAAAAGAAAGCAA 0.483000 HNSCC(33;0.089) 3 27 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609544 108609544 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:108609544G>A ENST00000264047.2 + 4 685 c.409G>A c.(409-411)Gga>Aga p.G137R SLC5A7_ENST00000540517.1_Missense_Mutation_p.G32R|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G137R NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 137 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGCACTGATGGGAGAAATGTT 0.438000 7 44 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6664984 6664984 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6664984G>A ENST00000326176.9 - 5 949 c.568C>T c.(568-570)Cga>Tga p.R190* TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226* NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 226 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TCACGCAGTCGAACCAGGCGT 0.602000 15 141 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355513 201355513 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:201355513C>T ENST00000391967.2 - 3 1277 c.976G>A c.(976-978)Gct>Act p.A326T LAD1_ENST00000367313.3_Missense_Mutation_p.A340T NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 326 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GGGTCTGAAGCCCCCTGCTTT 0.672000 4 11 0 0 1 0 0 NEU2 4759 broad.mit.edu 37 2 233898927 233898927 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:233898927C>T ENST00000233840.3 + 2 303 c.303C>T c.(301-303)ttC>ttT p.F101F NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 101 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) TCTTCCTCTTCTTCATTGCCA 0.637000 10 95 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594501 123594501 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123594501G>A ENST00000340011.5 + 3 1234 c.877G>A c.(877-879)Gat>Aat p.D293N SPAM1_ENST00000439500.1_Missense_Mutation_p.D293N|SPAM1_ENST00000223028.7_Missense_Mutation_p.D293N|SPAM1_ENST00000402183.2_Missense_Mutation_p.D293N|SPAM1_ENST00000460182.1_Missense_Mutation_p.D293N NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 293 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.D293H(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CAAAATACCTGATGCAAAAAG 0.413000 9 39 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544614 115544614 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:115544614G>A ENST00000310836.6 + 2 1100 c.578G>A c.(577-579)aGg>aAg p.R193K UGT8_ENST00000394511.3_Missense_Mutation_p.R193K NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 193 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) TTGCTGCAAAGGATGAAAAAT 0.468000 9 64 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120459206 120459206 + Missense_Mutation SNP G G A rs140353589 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120459206G>A ENST00000256646.2 - 34 6358 c.6139C>T c.(6139-6141)Cgg>Tgg p.R2047W NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 2047 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCACATCCCGGGGAAGACGA 0.537000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8999499 8999499 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8999499C>T ENST00000397910.4 - 56 40879 c.40676G>A c.(40675-40677)aGc>aAc p.S13559N MUC16_ENST00000380951.5_Missense_Mutation_p.S200N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13561 SEA 10. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGTCCAGGGCTTTTGGGATC 0.587000 21 101 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720751 140720751 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140720751C>T ENST00000394576.2 + 1 2213 c.2213C>T c.(2212-2214)tCg>tTg p.S738L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCAGAGCTCGCACTTTGTG 0.632000 8 85 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459285 92459285 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:92459285C>T ENST00000318445.6 + 2 457 c.243C>T c.(241-243)atC>atT p.I81I SLCO3A1_ENST00000424469.2_Silent_p.I81I NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 81 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TGGGTGTGATCGCTAGCAGCT 0.642000 13 104 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47778094 47778094 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:47778094C>T ENST00000398545.4 - 4 651 c.534G>A c.(532-534)gaG>gaA p.E178E NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 178 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CTTTCCGCTCCTCACACACCT 0.463000 18 297 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143779 56143779 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56143779G>A ENST00000302270.1 + 1 680 c.680G>A c.(679-681)aGg>aAg p.R227K NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCCATCCTGAGGATGCATTCA 0.453000 10 66 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242684291 242684291 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242684291C>T ENST00000321264.4 + 6 1061 c.853_splice c.e6+1 p.L284_splice D2HGDH_ENST00000403782.1_Splice_Site_p.L150_splice|D2HGDH_ENST00000537090.1_Splice_Site_p.L284_splice|D2HGDH_ENST00000342518.6_Splice_Site_p.L284_splice NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 284 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) TGGCTTTCCTCGGTGGGCTTC 0.602000 16 64 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52220399 52220399 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:52220399G>A ENST00000540069.2 - 3 807 c.747C>T c.(745-747)ctC>ctT p.L249L HAS1_ENST00000594621.1_Silent_p.L104L|HAS1_ENST00000222115.1_Silent_p.L250L|HAS1_ENST00000601714.1_Silent_p.L257L Q92839 HAS1_HUMAN hyaluronan synthase 1 250 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTACCCGCACGAGCTCCAGCA 0.627000 8 72 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202675 39202675 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:39202675G>A ENST00000351578.6 - 2 578 c.388C>T c.(388-390)Ccc>Tcc p.P130S FYB_ENST00000540520.1_Missense_Mutation_p.P140S|FYB_ENST00000515010.1_Missense_Mutation_p.P130S|FYB_ENST00000512982.1_Missense_Mutation_p.P130S|FYB_ENST00000505428.1_Missense_Mutation_p.P130S NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 130 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GGAGGCCAGGGAAATGTAGGT 0.517000 23 67 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47299717 47299717 + Splice_Site SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:47299717T>G ENST00000342922.4 + 6 1454 c.1095_splice c.e6-1 p.L366_splice MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Splice_Site_p.L366_splice|MADD_ENST00000406482.1_Splice_Site_p.L366_splice|MADD_ENST00000395336.3_Splice_Site_p.L366_splice|MADD_ENST00000395344.3_Splice_Site_p.L366_splice|MADD_ENST00000407859.3_Splice_Site_p.L366_splice|MADD_ENST00000349238.3_Splice_Site_p.L366_splice|MADD_ENST00000402192.2_Splice_Site_p.L366_splice|MADD_ENST00000402799.1_Splice_Site_p.L366_splice NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 366 DENN. 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) TTTCCACAGCTGCTGTTGGCT 0.433000 19 156 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42135969 42135969 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:42135969G>A ENST00000382448.4 + 16 1541 c.1532G>A c.(1531-1533)aGg>aAg p.R511K PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R280K|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R280K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R511K NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 280 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GCGGCCTTGAGGCAGGCCCTG 0.687000 9 54 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397267 51397267 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51397267C>T ENST00000327536.5 - 1 206 c.107G>A c.(106-108)aGg>aAg p.R36K RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 36 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) CGTGGCATCCCTTGTGCCTTG 0.522000 15 92 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146708079 146708079 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:146708079G>A ENST00000392299.2 + 7 2126 c.1656G>A c.(1654-1656)gaG>gaA p.E552E GRM1_ENST00000361719.2_Silent_p.E552E|GRM1_ENST00000282753.1_Silent_p.E552E|GRM1_ENST00000507907.1_Silent_p.E552E|GRM1_ENST00000492807.2_Silent_p.E552E|GRM1_ENST00000355289.4_Silent_p.E552E Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 552 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) CCTGCAAAGAGAATGAATATG 0.423000 14 90 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107416947 107416947 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107416947G>A ENST00000340010.5 - 15 1811 c.1627C>T c.(1627-1629)Cct>Tct p.P543S SLC26A3_ENST00000422236.2_Missense_Mutation_p.P508S NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 543 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 AAGTAGATAGGAGATGGACAT 0.358000 25 54 0 0 1 0 0 APOM 55937 broad.mit.edu 37 6 31625493 31625493 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31625493G>A ENST00000375916.3 + 5 1030 c.534G>A c.(532-534)agG>agA p.R178R APOM_ENST00000375920.4_Silent_p.R106R|APOM_ENST00000375918.2_Silent_p.R106R NM_019101.2 NP_061974.2 O95445 APOM_HUMAN apolipoprotein M 178 LTPRNQEACELSNN -> VDS (in Ref. 2; CAB51604). cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle binding|lipid transporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1) 7 TGACTCCTAGGAATCAAGGTA 0.488000 39 103 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119600567 119600567 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:119600567C>T ENST00000295206.6 - 2 1636 c.1126G>A c.(1126-1128)Gga>Aga p.G376R NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 376 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 TTGTACAGTCCCTGGGCCATG 0.652000 10 56 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112622519 112622519 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:112622519G>A ENST00000550722.1 - 61 10208 c.9813C>T c.(9811-9813)atC>atT p.I3271I HECTD4_ENST00000430131.2_Silent_p.I2995I|HECTD4_ENST00000377560.5_Silent_p.I3245I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGGCCTTGCGGATGGCGCCTC 0.652000 9 145 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013041 142013041 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142013041C>T ENST00000390357.3 + 0 35 CTAGCATGGGCTGCAGGCTGC 0.582000 7 49 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628401 134628401 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:134628401C>T ENST00000368586.5 - 51 7235 c.7135G>A c.(7135-7137)Gag>Aag p.E2379K TTC40_ENST00000263170.5_Missense_Mutation_p.E540K NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 540 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTTCTTCCCTCCTTTTTCACG 0.577000 14 160 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143090921 143090921 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143090921G>A ENST00000275815.3 - 16 2625 c.2539C>T c.(2539-2541)Cct>Tct p.P847S NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 847 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) TCCACAGGAGGGGGCAACCGG 0.582000 10 112 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44387218 44387218 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:44387218G>A ENST00000371477.3 + 9 1424 c.1125G>A c.(1123-1125)gtG>gtA p.V375V NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 375 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCACCAATGTGGACACCCCAT 0.453000 4 75 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643034 1643034 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1643034G>A ENST00000399682.1 - 1 334 c.290C>T c.(289-291)tCc>tTc p.S97F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 97 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCCCCTTGGAACCCCCACA 0.687000 14 128 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617425 77617425 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77617425C>T ENST00000521891.2 + 2 1550 c.1102C>T c.(1102-1104)Cat>Tat p.H368Y ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H368Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H368Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H368Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 368 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGCGCTTTTCATGTTGAAAA 0.483000 HNSCC(33;0.089) 7 50 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39635664 39635664 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39635664C>T ENST00000246639.2 - 3 688 c.556G>A c.(556-558)Gac>Aac p.D186N KRT35_ENST00000393989.1_Missense_Mutation_p.D216N Q92764 KRT35_HUMAN keratin 35 216 Coil 1B.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) GCCTCCAGGTCAGACTTGCAC 0.602000 13 71 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105937347 105937347 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105937347G>A ENST00000324342.3 + 1 280 c.115G>A c.(115-117)Gaa>Aaa p.E39K NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 56 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TTATTACAATGAAACCAGCAA 0.383000 13 51 0 0 1 0 0 RCBTB1 55213 broad.mit.edu 37 13 50123659 50123659 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:50123659G>A ENST00000378302.2 - 9 1240 c.980C>T c.(979-981)tCc>tTc p.S327F RCBTB1_ENST00000258646.3_Missense_Mutation_p.S327F|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S327F NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 327 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GTCGGTGCAGGAGAAGTGGGT 0.642000 4 45 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150868527 150868527 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150868527T>C ENST00000370353.3 + 3 457 c.67T>C c.(67-69)Ttc>Ctc p.F23L PRRG3_ENST00000370354.1_Missense_Mutation_p.F31L|PRRG3_ENST00000538575.1_Missense_Mutation_p.F23L Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 23 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) TGCCAATGAGTTCCTGGAGGA 0.557000 9 23 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60909298 60909298 + Missense_Mutation SNP G G A rs138625956 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60909298G>A ENST00000252999.3 - 22 2749 c.2683C>T c.(2683-2685)Ccc>Tcc p.P895S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 895 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACTCGAGGGGGTTGAAGCCA 0.667000 7 27 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043374 20043374 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20043374G>A ENST00000570682.1 - 2 1045 c.745C>T c.(745-747)Ctt>Ttt p.L249F NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 249 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AGGTGGTAAAGAATCATGATG 0.537000 9 75 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746652 95746652 + Silent SNP C C T rs144822361 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:95746652C>T ENST00000311106.3 - 8 1158 c.921G>A c.(919-921)tcG>tcA p.S307S PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.S260S NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 307 Catalytic. S -> L (in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates). cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCGTTTCCCGAAGCCCAGA 0.512000 35 147 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39742750 39742750 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:39742750G>A ENST00000361337.2 + 15 1843 c.1593G>A c.(1591-1593)ggG>ggA p.G531G RP1-1J6.2_ENST00000454626.1_RNA NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 531 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) ACTTCCTCGGGAAGGACTCCA 0.463000 T NUP98 AML* 12 76 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162902493 162902493 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:162902493C>T ENST00000416990.2 + 11 1235 c.738C>T c.(736-738)ctC>ctT p.L246L HMMR_ENST00000358715.3_Silent_p.L360L|HMMR_ENST00000353866.3_Silent_p.L345L|HMMR_ENST00000393915.4_Silent_p.L361L|HMMR_ENST00000432118.2_Silent_p.L274L O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 360 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) ATCAGAAGCTCTGTTCTTTTC 0.353000 6 57 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18960947 18960947 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:18960947C>T ENST00000262803.5 + 4 797 c.525C>T c.(523-525)ccC>ccT p.P175P UPF1_ENST00000599848.1_Silent_p.P175P|UPF1_ENST00000600310.1_3'UTR NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 175 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGGACGGGCCCCTGGGGGAGA 0.542000 13 114 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31683139 31683139 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31683139C>T ENST00000375825.3 + 1 7 c.7C>T c.(7-9)Ccc>Tcc p.P3S LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron NM_021246.2 NP_067069.2 lymphocyte antigen 6 complex, locus G6D central_nervous_system(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 TGCGATGAAACCCCAGTTTGT 0.642000 10 60 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747998 143747998 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143747998C>T ENST00000408906.2 + 1 538 c.504C>T c.(502-504)ttC>ttT p.F168F NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F168F(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) GGCTGCCCTTCTGTGGGCCCC 0.547000 16 231 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063956 9063956 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9063956G>A ENST00000397910.4 - 3 23693 c.23490C>T c.(23488-23490)acC>acT p.T7830T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7832 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAATCCAGGGGTCAGGGAGG 0.542000 12 74 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114891 57114891 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:57114891G>A ENST00000454682.1 - 3 704 c.423C>T c.(421-423)gcC>gcT p.A141A NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.A141A|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGGAGCCAGGGCAACCAGAG 0.542000 T BCL6 NHL 5 30 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483745 26483745 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:26483745C>T ENST00000295589.3 - 5 996 c.802G>A c.(802-804)Ggg>Agg p.G268R NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 268 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity p.G268W(1) NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) AGGTAACACCCATCGCTGTCC 0.602000 6 99 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41306696 41306696 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:41306696G>A ENST00000373198.3 - 7 1198 c.963C>T c.(961-963)atC>atT p.I321I PTPRT_ENST00000373190.1_Silent_p.I321I|PTPRT_ENST00000373193.3_Silent_p.I321I|PTPRT_ENST00000373187.1_Silent_p.I321I|PTPRT_ENST00000373184.1_Silent_p.I321I|PTPRT_ENST00000356100.2_Silent_p.I321I|PTPRT_ENST00000373201.1_Silent_p.I321I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 321 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTTCCTTCAGGATGATGGGGC 0.582000 20 64 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131640552 131640552 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:131640552G>A ENST00000368648.3 - 13 1245 c.1173C>T c.(1171-1173)atC>atT p.I391I EBF3_ENST00000355311.5_Silent_p.I400I NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 400 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCTTCAAGATGATCTCCTGCA 0.672000 8 63 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047124 9047124 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9047124G>A ENST00000397910.4 - 5 34710 c.34507C>T c.(34507-34509)Ccc>Tcc p.P11503S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11505 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 GTTGTCCTGGGAACCATTGTG 0.507000 14 79 0 0 1 0 0 ZNF692 55657 broad.mit.edu 37 1 249151506 249151506 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:249151506G>A ENST00000451251.1 - 4 762 c.417C>T c.(415-417)ccC>ccT p.P139P ZNF692_ENST00000306601.4_Silent_p.P134P|ZNF692_ENST00000427146.1_Silent_p.P134P|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Silent_p.P134P|ZNF692_ENST00000366471.3_Silent_p.P134P NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AGGCTGGCTTGGGTGCCTCTG 0.602000 12 80 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70511718 70511718 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:70511718C>T ENST00000276079.8 + 4 449 c.244C>T c.(244-246)Cct>Tct p.P82S NONO_ENST00000373856.3_Missense_Mutation_p.P82S|NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.P82S NM_007363.4 NP_031389.3 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 82 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) GGGAAATCTTCCTCCCGACAT 0.418000 T TFE3 papillary renal cancer 13 57 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40557098 40557098 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40557098C>T ENST00000455577.2 + 4 1024 c.112C>T c.(112-114)Cca>Tca p.P38S PAK6_ENST00000560346.1_Missense_Mutation_p.P38S|RP11-133K1.2_ENST00000558658.1_Silent_p.P131P|PAK6_ENST00000453867.1_Missense_Mutation_p.P38S|PAK6_ENST00000260404.4_Missense_Mutation_p.P38S|PAK6_ENST00000441369.1_Missense_Mutation_p.P38S|PAK6_ENST00000542403.2_Missense_Mutation_p.P38S NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 38 Linker. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GGGCCTCCCCCCACAATGGCA 0.592000 8 94 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89086852 89086852 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:89086852C>T ENST00000286614.6 - 7 1484 c.1203G>A c.(1201-1203)ggG>ggA p.G401G MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 401 Hemopexin-like 2. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ACACAAAATTCCCGTCGCTAT 0.398000 4 55 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137708903 137708903 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:137708903C>T ENST00000371817.3 + 53 4568 c.4154C>T c.(4153-4155)cCa>cTa p.P1385L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1385 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCAGGTCCATCGGGGCCT 0.542000 14 40 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101100660 101100660 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:101100660A>C ENST00000369162.2 - 18 3273 c.2929T>G c.(2929-2931)Tcc>Gcc p.S977A NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 977 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TCAGTTGAGGAAAAATATCCA 0.358000 4 26 0 0 1 0 0 CMKLR1 1240 broad.mit.edu 37 12 108685663 108685663 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:108685663C>T ENST00000397688.2 - 3 1440 c.1071G>A c.(1069-1071)atG>atA p.M357I CMKLR1_ENST00000412676.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000550402.1_Missense_Mutation_p.M359I|CMKLR1_ENST00000312143.7_Missense_Mutation_p.M359I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.M357I NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 359 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 TCCTCTCATTCATTGATGACA 0.502000 4 56 0 0 1 0 0 TMX2 51075 broad.mit.edu 37 11 57505831 57505831 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57505831C>T ENST00000278422.4 + 4 382 c.370C>T c.(370-372)Ctg>Ttg p.L124L TMX2_ENST00000378312.4_Silent_p.L86L|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 124 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TTTAGTGTTCCTGATGACGTG 0.403000 10 95 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483636 59483636 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:59483636G>A ENST00000312828.3 - 2 1160 c.61C>T c.(61-63)Ccc>Tcc p.P21S NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 21 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CTGCGCCGGGGGCTGTAGTAA 0.597000 17 84 0 0 1 0 0 SFXN1 94081 broad.mit.edu 37 5 174936162 174936162 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:174936162C>T ENST00000321442.5 + 3 546 c.292C>T c.(292-294)Ccc>Tcc p.P98S SFXN1_ENST00000502393.1_Missense_Mutation_p.P98S NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 98 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AGCCCAGGTTCCCATGAACAT 0.378000 18 110 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413826 43413826 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:43413826G>A ENST00000310826.5 - 3 562 c.379C>T c.(379-381)Cca>Tca p.P127S ZBTB21_ENST00000398511.3_Missense_Mutation_p.P127S|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P127S|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P127S NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 GGACACGTTGGAAAGGGGGCT 0.408000 7 40 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031453 109031453 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:109031453C>T ENST00000478945.1 - 3 366 c.120G>A c.(118-120)atG>atA p.M40I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 40 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGCTTGGTTCCATTTGTTCCA 0.413000 7 118 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603106 140603106 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140603106G>A ENST00000239449.4 + 1 29 c.29G>A c.(28-30)cGa>cAa p.R10Q PCDHB14_ENST00000515856.2_5'UTR NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 10 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGATCTGCGAAAAAGGCAA 0.453000 12 41 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23900200 23900200 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:23900200C>T ENST00000355349.3 - 10 967 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 269 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTGGATTTTTCCAGAAGATCT 0.408000 7 61 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215843681 215843681 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:215843681G>A ENST00000272895.7 - 32 5043 c.4824C>T c.(4822-4824)ctC>ctT p.L1608L ABCA12_ENST00000389661.4_Silent_p.L1290L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1608 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TATCCTCCTTGAGGTAGGCTT 0.483000 13 61 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17588656 17588656 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:17588656C>T ENST00000319363.6 + 12 1218 c.1085C>T c.(1084-1086)aCc>aTc p.T362I NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 362 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACCAAATACACCGGTCAGTAT 0.453000 11 48 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951203 119951203 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:119951203G>A ENST00000307142.4 + 4 1469 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K SYNPO2_ENST00000429713.2_Missense_Mutation_p.E425K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E425K NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 425 Poly-Glu. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGACGAGGAGGAAGAAGGTGA 0.507000 10 46 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810979 65810979 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:65810979G>A ENST00000312006.4 - 3 576 c.295C>T c.(295-297)Ccg>Tcg p.P99S GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P99S NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 99 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TCGCAGCTCGGGTGCGGCAGG 0.667000 4 38 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480062 73480062 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:73480062A>T ENST00000523207.1 + 2 681 c.93A>T c.(91-93)aaA>aaT p.K31N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 31 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) TCCGGAGCAAAACATGCTCCA 0.552000 10 83 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426691 10426691 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10426691C>T ENST00000245503.5 - 38 5895 c.5511G>A c.(5509-5511)aaG>aaA p.K1837K MYH2_ENST00000397183.2_Silent_p.K1837K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1837 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAGCATTACGCTTTTGCTCAC 0.473000 22 76 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44249171 44249171 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:44249171G>A ENST00000262419.6 - 2 809 c.339C>T c.(337-339)ctC>ctT p.L113L KANSL1_ENST00000572904.1_Silent_p.L113L|KANSL1_ENST00000432791.1_Silent_p.L113L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L113L|KANSL1_ENST00000574590.1_Silent_p.L113L NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 113 MLL1 complex protein binding ACTGAGATAAGAGAGGATGAG 0.443000 9 207 0 0 1 0 0 MOB1A 55233 broad.mit.edu 37 2 74386227 74386227 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:74386227G>A ENST00000396049.3 - 5 757 c.564C>T c.(562-564)ttC>ttT p.F188F MOB1A_ENST00000497054.1_5'UTR NM_018221.3 NP_060691.2 Q9H8S9 MOL1B_HUMAN MOB kinase activator 1A 188 hippo signaling cascade metal ion binding|protein binding CCTGAACAAAGAAAATAAAGT 0.413000 8 108 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214828663 214828663 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:214828663C>T ENST00000366955.3 + 17 8570 c.8402C>T c.(8401-8403)tCc>tTc p.S2801F NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2897 Sufficient for centromere localization.|Sufficient for self-association. 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 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) TTGATCAAATCCTGTAAACAG 0.398000 7 37 0 0 1 0 0 ILKAP 80895 broad.mit.edu 37 2 239079612 239079612 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:239079612G>A ENST00000254654.3 - 11 1185 c.1010C>T c.(1009-1011)gCc>gTc p.A337V NM_030768.2 NP_110395.1 Q9H0C8 ILKAP_HUMAN integrin-linked kinase-associated serine/threonine phosphatase 337 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GAAGTTCACGGCTTCTTCTGG 0.463000 13 163 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160718047 160718047 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160718047C>T ENST00000368043.3 + 2 156 c.119C>T c.(118-120)cCc>cTc p.P40L SLAMF7_ENST00000444090.2_Missense_Mutation_p.P40L|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.P40L|SLAMF7_ENST00000441662.2_Missense_Mutation_p.P40L|SLAMF7_ENST00000488819.1_3'UTR NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 40 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GTGACTTTCCCCCTGAAGTCC 0.507000 6 52 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141321703 141321703 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:141321703C>T ENST00000325617.5 - 7 942 c.501_splice c.e7-1 p.E168_splice CLGN_ENST00000537281.1_Splice_Site_p.E168_splice|CLGN_ENST00000414773.1_Splice_Site_p.E168_splice NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 168 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TAAAAGTTTTCCTTCAAAGAG 0.294000 3 13 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102944 22102944 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22102944G>A ENST00000542433.1 - 1 152 c.55C>T c.(55-57)Ctg>Ttg p.L19L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) GACAAACCCAGAAGAATGAAA 0.463000 9 100 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713783 142713783 + RNA SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:142713783T>A ENST00000369381.2 - 0 822 CATTGTCATTTTTCATTGTGC 0.289000 7 29 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1414074 1414074 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:1414074C>T ENST00000446702.2 + 13 2211 c.1584C>T c.(1582-1584)tcC>tcT p.S528S CNTN6_ENST00000539053.1_Silent_p.S456S|CNTN6_ENST00000350110.2_Silent_p.S528S Q9UQ52 CNTN6_HUMAN contactin 6 528 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATGACCCCTCCATTGAAGTGG 0.418000 8 41 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043470 20043470 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20043470G>A ENST00000570682.1 - 2 949 c.649C>T c.(649-651)Cgt>Tgt p.R217C NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 217 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CCACGGAGACGAAAATTGCTC 0.507000 9 72 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122033565 122033565 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:122033565C>T ENST00000334010.7 - 19 3233 c.2812G>A c.(2812-2814)Gat>Aat p.D938N CADPS2_ENST00000412584.2_Missense_Mutation_p.D934N|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.D934N|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.D940N NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 940 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TCCATGAGATCCACATAGCGG 0.443000 5 105 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088013 86088013 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:86088013G>A ENST00000330753.4 + 2 922 c.155G>A c.(154-156)cGa>cAa p.R52Q FLRT2_ENST00000554746.1_Missense_Mutation_p.R52Q NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 52 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGTAATGAGCGAAGCTTGACC 0.517000 11 96 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091591 16091591 + Missense_Mutation SNP G G A rs146575757 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16091591G>A ENST00000375766.3 + 3 753 c.113G>A c.(112-114)cGg>cAg p.R38Q FBLIM1_ENST00000441801.2_Missense_Mutation_p.R38Q|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R38Q|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R38Q|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R38Q NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 38 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TGTGAGGCCCGGCGTGGCCGC 0.697000 21 65 0 0 1 0 0 TTC6 319089 broad.mit.edu 37 14 38278040 38278040 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:38278040G>A ENST00000553443.1 + 24 4558 c.4558G>A c.(4558-4560)Gaa>Aaa p.E1520K TTC6_ENST00000267368.7_Missense_Mutation_p.E154K|TTC6_ENST00000476979.1_Missense_Mutation_p.E154K|TTC6_ENST00000382320.3_Missense_Mutation_p.E234K tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) CAAGATAAGGGAACTTCAAAT 0.279000 17 60 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76503713 76503713 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:76503713C>T ENST00000389840.5 - 28 4523 c.4399G>A c.(4399-4401)Gag>Aag p.E1467K DNAH17_ENST00000585328.1_Missense_Mutation_p.E1468K 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) CTTGTCACCTCCTTCAGGAAG 0.582000 4 30 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170042421 170042421 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:170042421T>G ENST00000263816.3 - 50 9722 c.9437A>C c.(9436-9438)gAc>gCc p.D3146A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3146 EGF-like 11. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTCCGCTTGTCAGACATGAG 0.458000 4 60 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60641149 60641149 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:60641149C>T ENST00000278853.5 + 9 1473 c.1473C>T c.(1471-1473)gcC>gcT p.A491A NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) 491 ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 AAATGGTAGCCTTGGACGGGG 0.582000 5 107 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32395921 32395921 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:32395921C>T ENST00000283365.9 + 8 1003 c.652C>T c.(652-654)Ccc>Tcc p.P218S DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399121.5_Missense_Mutation_p.P218S|DTNA_ENST00000315456.6_Missense_Mutation_p.P218S|DTNA_ENST00000598774.1_Missense_Mutation_p.P218S|DTNA_ENST00000399113.3_Missense_Mutation_p.P218S|DTNA_ENST00000444659.1_Missense_Mutation_p.P218S|DTNA_ENST00000598142.1_Missense_Mutation_p.P218S|DTNA_ENST00000598334.1_Missense_Mutation_p.P218S|DTNA_ENST00000595022.1_Missense_Mutation_p.P218S|DTNA_ENST00000554864.3_Missense_Mutation_p.P218S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269191.6_Missense_Mutation_p.P218S|DTNA_ENST00000348997.5_Missense_Mutation_p.P218S|DTNA_ENST00000269190.7_Missense_Mutation_p.P218S|DTNA_ENST00000597599.1_Missense_Mutation_p.P218S NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 218 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 GTCAGATCCTCCCCCGCAGTG 0.398000 7 80 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786575 113786575 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:113786575C>T ENST00000259213.4 - 4 309 c.202G>A c.(202-204)Gga>Aga p.G68R IL36B_ENST00000327407.2_Missense_Mutation_p.G68R NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 68 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 AGATCTTTTCCCTTGATTCCC 0.413000 13 64 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378150 31378150 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:31378150C>T ENST00000297142.3 - 2 1055 c.733G>A c.(733-735)Gaa>Aaa p.E245K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 245 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAGTACTTTCATAGAAGGAT 0.473000 8 56 0 0 1 0 0 DNAJA3 9093 broad.mit.edu 37 16 4500442 4500442 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:4500442C>T ENST00000262375.6 + 10 1360 c.1283C>T c.(1282-1284)gCc>gTc p.A428V DNAJA3_ENST00000355296.4_Missense_Mutation_p.A428V|DNAJA3_ENST00000431375.2_Missense_Mutation_p.A275V NM_005147.5 NP_005138.3 Q96EY1 DNJA3_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 3 428 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 CTGAGCTACGCCGAGGACGAG 0.607000 3 13 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335512 20335512 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20335512G>A ENST00000302555.5 - 3 310 c.161C>T c.(160-162)cCa>cTa p.P54L GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.P54L|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 54 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATGAGCCTCTGGGGTGCCAGG 0.547000 11 55 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49292128 49292128 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:49292128G>A ENST00000559471.1 - 16 2568 c.2305C>T c.(2305-2307)Cct>Tct p.P769S SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P724S|SECISBP2L_ENST00000559122.1_5'UTR NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 769 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 AACACAAAAGGAATTTCTTGT 0.463000 9 53 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141079559 141079559 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141079559C>T ENST00000389484.3 - 82 13584 c.12613G>A c.(12613-12615)Ggc>Agc p.G4205S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4205 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) TTGCAGGTGCCATTAATCAAA 0.378000 TSP Lung(27;0.18) 5 59 0 0 1 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857449 68857449 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:68857449G>A ENST00000361320.4 + 3 2219 c.1641G>A c.(1639-1641)acG>acA p.T547T CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 547 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCTTTGAAACGAATGCACAGG 0.463000 6 69 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44273936 44273936 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44273936G>A ENST00000262888.3 - 5 1260 c.865C>T c.(865-867)Ctg>Ttg p.L289L NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 289 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TTAAACTCCAGCTTCCGGGCC 0.587000 7 110 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13410061 13410061 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:13410061C>T ENST00000360228.5 - 19 2385 c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K CACNA1A_ENST00000573710.2_Missense_Mutation_p.E797K NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 797 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGGTCCATTTCGTTATACAGG 0.622000 8 96 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675591 54675591 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54675591C>T ENST00000546500.1 + 3 760 c.145C>T c.(145-147)Cca>Tca p.P49S HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P49S|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P49S|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.P49S|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 49 Globular A domain.|RRM 1. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 AATGAGAGATCCAAACACCAA 0.438000 3 26 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81701762 81701762 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:81701762T>C ENST00000372292.3 - 5 538 c.498A>G c.(496-498)ggA>ggG p.G166G NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 166 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CACCTCGCTCTCCCTTAGGGC 0.617000 7 86 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056617 26056617 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:26056617G>A ENST00000343677.2 - 1 82 c.40C>T c.(40-42)Cct>Tct p.P14S NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 14 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TTCTCCGCAGGAGGCGCGGCA 0.622000 10 82 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71946982 71946982 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:71946982C>T ENST00000298229.2 + 25 3035 c.2831C>T c.(2830-2832)cCc>cTc p.P944L INPPL1_ENST00000538751.1_Missense_Mutation_p.P702L|INPPL1_ENST00000541756.1_Missense_Mutation_p.P702L NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 944 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACGGGGAGGCCCCCAGCCCCA 0.672000 7 40 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169835 113169835 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:113169835G>A ENST00000401783.2 - 38 8381 c.8045C>T c.(8044-8046)tCa>tTa p.S2682L SVEP1_ENST00000297826.5_Missense_Mutation_p.S608L|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2659L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2682 Sushi 21. 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 ACAGGTGTATGAAACCATGGT 0.453000 40 144 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19032967 19032967 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19032967G>A ENST00000421369.3 + 4 705 c.147G>A c.(145-147)ggG>ggA p.G49G TMC7_ENST00000304381.5_Silent_p.G159G|TMC7_ENST00000569532.1_Silent_p.G159G NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 159 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTGGCACTGGGATTCAGTCCT 0.418000 9 77 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707364 96707364 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:96707364C>T ENST00000542454.2 + 3 3706 c.618C>T c.(616-618)ttC>ttT p.F206F RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.F206F|BDKRB2_ENST00000306005.3_Silent_p.F233F|BDKRB2_ENST00000554311.1_Silent_p.F233F P30411 BKRB2_HUMAN bradykinin receptor B2 233 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) TCGTGGGCTTCCTGCTGCCCC 0.542000 6 19 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238277457 238277457 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:238277457C>T ENST00000295550.4 - 10 5101 c.4649G>A c.(4648-4650)gGa>gAa p.G1550E COL6A3_ENST00000472056.1_Missense_Mutation_p.G943E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1344E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1349E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1344E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1350E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1550 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G1550E(1) 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) CTGGGATTTTCCACCCAGGAC 0.562000 7 94 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784066 8784066 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:8784066C>T ENST00000447110.1 - 19 2657 c.2533G>A c.(2533-2535)Gac>Aac p.D845N PIK3R5_ENST00000581552.1_Missense_Mutation_p.D845N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.D844N NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 845 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GAGGAGAGGTCGCTCTTCTCT 0.637000 6 35 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371380 48371380 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48371380C>T ENST00000395702.2 + 2 1075 c.848C>T c.(847-849)tCc>tTc p.S283F ZNF488_ENST00000586537.1_Missense_Mutation_p.S176F|ZNF488_ENST00000494156.1_3'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TGCAACCTGTCCTTTCGCCTA 0.597000 9 53 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167544 140167544 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140167544G>A ENST00000504120.2 + 1 1669 c.1669G>A c.(1669-1671)Gac>Aac p.D557N PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.D557N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCGTGCTGGACGAGAACGA 0.672000 11 114 0 0 1 0 0 RAB40C 57799 broad.mit.edu 37 16 677618 677618 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:677618C>T ENST00000535977.1 + 7 1064 c.842C>T c.(841-843)tCc>tTc p.S281F RAB40C_ENST00000538492.1_Missense_Mutation_p.S281F|RAB40C_ENST00000248139.3_Missense_Mutation_p.S281F|RAB40C_ENST00000539661.1_Missense_Mutation_p.S281F NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 281 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) TGCAAGATCTCCTAGCGGGGA 0.677000 8 59 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473386 50473386 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50473386C>T ENST00000602139.1 + 0 387 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 GTACTTCTTTCGGGTGGAGAG 0.552000 3 43 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29404629 29404629 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:29404629G>A ENST00000320081.5 + 16 2243 c.1988G>A c.(1987-1989)gGa>gAa p.G663E CLIP4_ENST00000404424.1_Missense_Mutation_p.G663E|CLIP4_ENST00000401617.2_Intron NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 663 CAP-Gly 3. endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) AGCGCCAAGGGAAAAAATGAT 0.512000 9 89 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185837 127185837 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:127185837C>T ENST00000371124.3 - 1 545 c.349G>A c.(349-351)Gaa>Aaa p.E117K NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 117 cytoplasm|cytoskeleton p.E117K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCTCGAATTTCCCTAGGATTC 0.488000 59 162 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17814265 17814265 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:17814265C>T ENST00000325083.8 + 11 2064 c.1625C>T c.(1624-1626)tCc>tTc p.S542F PCM1_ENST00000519253.1_Missense_Mutation_p.S542F|PCM1_ENST00000524226.1_Missense_Mutation_p.S542F NM_006197.3 NP_006188.3 Q15154 PCM1_HUMAN pericentriolar material 1 542 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) CATGAAAATTCCGAGCCTGTT 0.358000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 3 11 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204900 34204900 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34204900G>A ENST00000373381.4 - 15 2385 c.2209C>T c.(2209-2211)Cca>Tca p.P737S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 697 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCATTTACTGGAACGCCAGGA 0.527000 17 82 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49414910 49414910 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:49414910C>T ENST00000374201.3 - 14 1980 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K FRMPD2_ENST00000407470.4_Missense_Mutation_p.E528K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E535K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 560 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ATCTCCTCTTCTGGCCTCCTC 0.483000 4 51 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230253056 230253056 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:230253056C>T ENST00000341772.4 - 11 1914 c.1780G>A c.(1780-1782)Ggg>Agg p.G594R NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 594 EGF-like 10; calcium-binding (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AGGCAGCTCCCACCATGGTGG 0.522000 10 143 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60912735 60912735 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60912735C>T ENST00000252999.3 - 16 2141 c.2075G>A c.(2074-2076)cGg>cAg p.R692Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 692 Laminin EGF-like 8. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCCCACTCCGGGGGTCACA 0.662000 5 58 0 0 1 0 0 NUP54 53371 broad.mit.edu 37 4 77057356 77057356 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:77057356G>A ENST00000264883.3 - 4 645 c.505C>T c.(505-507)Ccc>Tcc p.P169S NUP54_ENST00000514987.1_Missense_Mutation_p.P121S|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_Intron NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 169 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 CGGCAAAAGGGATTTTCTTGT 0.308000 17 55 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226055597 226055597 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:226055597C>T ENST00000366835.3 - 7 775 c.505G>A c.(505-507)Gac>Aac p.D169N NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 169 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CCCAGCAAGTCCCCTGAGAGG 0.552000 6 38 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74477501 74477501 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:74477501C>T ENST00000394019.2 - 17 2019 c.1622G>A c.(1621-1623)gGg>gAg p.G541E SLC4A5_ENST00000423644.1_Missense_Mutation_p.G541E|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G541E|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G477E|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G477E|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G541E|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G541E|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G541E NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 541 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CCCCAGAAGCCCACCAAAGGT 0.537000 OREG0014716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 80 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390392 197390392 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197390392C>T ENST00000367400.3 + 6 1569 c.1434C>T c.(1432-1434)tcC>tcT p.S478S CRB1_ENST00000535699.1_Silent_p.S409S|CRB1_ENST00000538660.1_Silent_p.S478S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.S366S|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.S177S NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 478 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ACACCGGGTCCCTGTGTGAAA 0.502000 13 28 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887225 3887225 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:3887225C>T ENST00000319331.3 + 2 1661 c.900C>T c.(898-900)ctC>ctT p.L300L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 300 integral to membrane p.L300L(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TGGGCGAGCTCGTTTCTGTCG 0.453000 12 45 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111541186 111541186 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:111541186C>T ENST00000261486.5 - 14 1470 c.1194G>A c.(1192-1194)aaG>aaA p.K398K EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 398 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TATTTTCATTCTTTGCTTTCT 0.303000 30 278 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119466136 119466136 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:119466136G>A ENST00000369429.3 - 5 793 c.784C>T c.(784-786)Cct>Tct p.P262S TBX15_ENST00000207157.3_Missense_Mutation_p.P156S Q96SF7 TBX15_HUMAN T-box 15 262 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TCCCCAACAGGAACAGGCTTA 0.473000 8 50 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57257766 57257766 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57257766C>T ENST00000343433.6 - 2 800 c.720G>A c.(718-720)caG>caA p.Q240Q C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 240 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 CATAGATGGGCTGGCAGGGGC 0.507000 4 141 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33749706 33749706 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:33749706G>A ENST00000394562.1 - 4 865 c.342C>T c.(340-342)acC>acT p.T114T SLFN12_ENST00000452764.3_Silent_p.T114T|SLFN12_ENST00000304905.5_Silent_p.T114T Q8IYM2 SLN12_HUMAN schlafen family member 12 114 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCAGACCAGAGGTGTTCAAGC 0.393000 6 41 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610403 47610403 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47610403C>T ENST00000371891.3 + 8 1110 c.1079C>T c.(1078-1080)tCc>tTc p.S360F CYP4A22_ENST00000371890.3_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.S360F|CYP4A22_ENST00000485117.1_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 360 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GATGGAGCCTCCATCACCTGG 0.607000 10 38 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133965 57133965 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57133965C>T ENST00000328070.6 + 3 1544 c.1310C>T c.(1309-1311)cCg>cTg p.P437L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 437 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGCGAGAAGCCGTACAGGTGC 0.652000 10 58 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53208000 53208000 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53208000C>T ENST00000293774.4 - 1 335 c.65G>A c.(64-66)aGg>aAg p.R22K KRT4_ENST00000551956.1_5'UTR B4DRS2 B4DRS2_HUMAN keratin 4 0 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GGGCTTGGCCCTTGGCACAAG 0.537000 9 60 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168892 142168892 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142168892C>T ENST00000454561.2 - 0 153 GCTTGGTCCTCCTGGGGAAGA 0.587000 3 11 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31617782 31617782 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:31617782A>G ENST00000409210.1 + 6 812 c.628A>G c.(628-630)Atc>Gtc p.I210V CCDC129_ENST00000407970.3_Missense_Mutation_p.I302V|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.I328V Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 302 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AGCAACCTCAATCAACCACAA 0.438000 5 38 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10307677 10307677 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10307677C>T ENST00000403437.2 - 22 2752 c.2658G>A c.(2656-2658)gaG>gaA p.E886E CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 886 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GGTCATTTTTCTCTTTTAAGA 0.398000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 11 29 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583484 7583484 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7583484G>A ENST00000379802.3 + 24 6330 c.5989G>A c.(5989-5991)Ggg>Agg p.G1997R DSP_ENST00000418664.2_Missense_Mutation_p.G1398R NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1997 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACTATTGAAGGGGAAGAAGTC 0.478000 6 58 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834712 61834712 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61834712G>A ENST00000280772.1 - 37 6118 c.5927C>T c.(5926-5928)tCa>tTa p.S1976L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1976 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACTCTTTGGTGATTTGGGTGA 0.398000 7 36 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182322478 182322478 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:182322478C>T ENST00000397033.2 + 1 527 c.97C>T c.(97-99)Ccc>Tcc p.P33S ITGA4_ENST00000339307.4_Missense_Mutation_p.P33S NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 33 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GACCGGCCGCCCCTACAACGT 0.697000 4 29 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40837122 40837122 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40837122C>T ENST00000264638.4 + 4 694 c.477C>T c.(475-477)atC>atT p.I159I CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 159 F5/8 type C. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCGGCAAGATCGGCCTGAGGC 0.662000 5 52 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26463519 26463519 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:26463519G>A ENST00000256737.3 + 2 953 c.101G>A c.(100-102)cGg>cAg p.R34Q ANO3_ENST00000525139.1_Missense_Mutation_p.R18Q|ANO3_ENST00000537978.1_Missense_Mutation_p.R18Q|ANO3_ENST00000531646.1_Missense_Mutation_p.R34Q NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 34 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AAACCGTCTCGGAGATCCCTG 0.438000 30 127 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36582358 36582358 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36582358C>T ENST00000401500.2 + 18 2236 c.2201C>T c.(2200-2202)tCt>tTt p.S734F WDR62_ENST00000270301.7_Missense_Mutation_p.S734F NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 734 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ATCACAGTATCTGGAGACAGG 0.493000 6 49 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112655 248112655 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248112655C>T ENST00000357191.3 + 1 496 c.496C>T c.(496-498)Cct>Tct p.P166S OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 166 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) ACTCCATATTCCTTATTGCCG 0.483000 14 72 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9079356 9079356 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:9079356G>A ENST00000400906.1 - 4 347 c.348C>T c.(346-348)atC>atT p.I116I NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 116 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGGCGGGGATGATGGCAAAGA 0.597000 11 41 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767784 181767784 + Silent SNP C C T rs35105143 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:181767784C>T ENST00000526775.1 + 46 6735 c.6570C>T c.(6568-6570)ttC>ttT p.F2190F CACNA1E_ENST00000367567.4_Silent_p.F1816F|CACNA1E_ENST00000357570.5_Silent_p.F2203F|CACNA1E_ENST00000358338.5_Silent_p.F2141F|CACNA1E_ENST00000367573.2_Silent_p.F2252F|CACNA1E_ENST00000360108.3_Silent_p.F2233F|CACNA1E_ENST00000367570.1_Silent_p.F2209F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2252 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 CGCTCACTTTCGAAGCAGCCG 0.642000 5 22 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81332073 81332073 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:81332073C>T ENST00000222390.5 - 18 2237 c.2010_splice c.e18-1 p.G671_splice HGF_ENST00000457544.2_Splice_Site_p.G666_splice NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 671 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCATAATCCCCCTAGGAGTAA 0.363000 6 57 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23508151 23508151 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:23508151T>C ENST00000258729.3 - 2 542 c.186A>G c.(184-186)gaA>gaG p.E62E IGF2BP3_ENST00000491719.1_5'UTR NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 62 RRM 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 TCCCGTGCAGTTCTATTTTAC 0.557000 35 146 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26462937 26462937 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26462937G>A ENST00000265944.5 + 30 3910 c.3744G>A c.(3742-3744)agG>agA p.R1248R MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1248 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAGAGGAGAGGAATTGTGAAG 0.433000 17 70 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86817410 86817410 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:86817410T>C ENST00000414194.2 + 13 2198 c.406T>C c.(406-408)Tta>Cta p.L136L DMTF1_ENST00000331242.7_Silent_p.L402L|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000432937.2_Silent_p.L314L|DMTF1_ENST00000394703.5_Silent_p.L402L Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 402 Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) CCCTTCAGTCTTAATAAAAGG 0.413000 6 44 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175897 140175897 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140175897G>A ENST00000526136.1 + 1 1348 c.1348G>A c.(1348-1350)Gac>Aac p.D450N PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D450N|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D450N NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACGTGAACGACAACGCGCC 0.642000 10 65 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115624496 115624496 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:115624496G>A ENST00000484212.1 - 4 444 c.270C>T c.(268-270)ttC>ttT p.F90F TFEC_ENST00000320239.7_5'UTR|TFEC_ENST00000393485.1_5'UTR|TFEC_ENST00000265440.7_5'UTR O14948 TFEC_HUMAN transcription factor EC 0 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CAAGGGTCATGAAAGAGTTTA 0.453000 7 83 0 0 1 0 0 SPATA8 145946 broad.mit.edu 37 15 97327486 97327486 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:97327486G>A ENST00000328504.3 + 2 460 c.193G>A c.(193-195)Gaa>Aaa p.E65K SPATA8_ENST00000558553.1_Missense_Mutation_p.G24E NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 65 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GCCTGCAAAGGAAGGTAAGTA 0.577000 6 41 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73999426 73999426 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:73999426G>A ENST00000425876.2 + 6 827 c.739G>A c.(739-741)Gga>Aga p.G247R TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.G247R Q00526 CDK3_HUMAN cyclin-dependent kinase 3 247 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 GACCAGGAAGGGACTGGAAGA 0.587000 10 80 0 0 1 0 0 SNX29P2 440352 broad.mit.edu 37 16 29376022 29376022 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:29376022G>A ENST00000398878.3 + 0 1450 SNX29P2_ENST00000507381.1_RNA ATGCAAAAAGGAGCGGAAGAA 0.368000 3 39 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221693 5221693 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5221693G>A ENST00000321255.1 - 1 237 c.238C>T c.(238-240)Ctg>Ttg p.L80L NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCATGCACAGGTCAGTGAGG 0.527000 9 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179586793 179586793 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179586793C>T ENST00000589042.1 - 78 22821 c.22597G>A c.(22597-22599)Gat>Aat p.D7533N TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7216N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6289N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7216 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) CACTCAAAATCAGCACTTTCT 0.413000 12 144 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64526861 64526861 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:64526861C>T ENST00000498707.1 - 36 5773 c.5431G>A c.(5431-5433)Gat>Aat p.D1811N ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D1783N NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1811 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGGCAGTCATCGCGCCGGCTC 0.458000 11 74 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112229944 112229944 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:112229944A>G ENST00000261733.2 + 8 936 c.875A>G c.(874-876)aAc>aGc p.N292S ALDH2_ENST00000416293.3_Missense_Mutation_p.N245S NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 292 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) AAGAGCCCCAACATCATCATG 0.582000 T HMGA2 leiomyoma 6 52 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68055847 68055847 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:68055847C>T ENST00000478136.1 + 2 568 c.78C>T c.(76-78)tcC>tcT p.S26S FAM19A1_ENST00000496687.1_Silent_p.S26S NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 26 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCCATGGATCCCTTCAGCACA 0.502000 9 88 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61341149 61341149 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:61341149C>T ENST00000370501.3 + 1 961 c.590C>T c.(589-591)gCc>gTc p.A197V NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 197 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CTCGCCTCGGCCCTGCTGGCG 0.667000 9 59 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427891 119427891 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:119427891G>A ENST00000369429.3 - 8 1282 c.1273C>T c.(1273-1275)Cag>Tag p.Q425* TBX15_ENST00000207157.3_Nonsense_Mutation_p.Q319* Q96SF7 TBX15_HUMAN T-box 15 425 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GTGCCACTCTGAAGCCTGTTG 0.542000 13 51 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45285708 45285708 + Missense_Mutation SNP G G A rs148127553 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:45285708G>A ENST00000270279.3 + 4 802 c.739G>A c.(739-741)Gtc>Atc p.V247I CBLC_ENST00000341505.4_Missense_Mutation_p.V247I NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 247 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CTATGATGAGGTCCAAGAGCG 0.622000 M AML 17 88 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813831 106813831 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:106813831C>T ENST00000407775.2 + 8 1771 c.1521C>T c.(1519-1521)atC>atT p.I507I RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.I375I|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.I375I|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.I238I NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 507 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAAGATATCACCATGGTCC 0.502000 19 142 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130287386 130287386 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:130287386G>A ENST00000373312.3 - 4 585 c.372C>T c.(370-372)atC>atT p.I124I FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Silent_p.I111I NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 124 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CGGACGTGAGGATTTTGTAGC 0.592000 13 56 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3084744 3084744 + Silent SNP G G A rs112921386 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:3084744G>A ENST00000397461.1 + 21 2979 c.2595G>A c.(2593-2595)acG>acA p.T865T CNTN4_ENST00000358480.3_Silent_p.T646T|CNTN4_ENST00000427331.1_Silent_p.T865T|CNTN4_ENST00000418658.1_Silent_p.T865T|CNTN4_ENST00000448906.2_Silent_p.T537T|CNTN4_ENST00000397459.2_Silent_p.T537T|CNTN4-AS1_ENST00000442749.2_RNA NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 865 Fibronectin type-III 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAAAAATCACGAACTTAAAAG 0.393000 5 28 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121483 50121483 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50121483G>A ENST00000374160.3 - 1 794 c.718C>T c.(718-720)Ctg>Ttg p.L240L WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.L240L NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 240 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GGTGAGATCAGATTGGGAAAG 0.537000 17 74 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214825138 214825138 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:214825138G>A ENST00000366955.3 + 15 8237 c.8069G>A c.(8068-8070)gGg>gAg p.G2690E CENPF_ENST00000467765.1_3'UTR NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2786 Sufficient for centromere localization.|Sufficient for self-association. 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 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) GAAAAGGAAGGGAAAGTGAGA 0.398000 7 44 0 0 1 0 0 CD300A 11314 broad.mit.edu 37 17 72469862 72469862 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72469862C>T ENST00000360141.3 + 2 516 c.228C>T c.(226-228)tcC>tcT p.S76S CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 76 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GCCGAGTGTCCATCAGGGACA 0.532000 14 70 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150135 25150135 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:25150135C>T ENST00000332271.5 - 8 1239 c.823G>A c.(823-825)Gaa>Aaa p.E275K PIWIL3_ENST00000533313.1_Missense_Mutation_p.E166K|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E166K|PIWIL3_ENST00000532537.2_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 275 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATGCTGTTTTCGTATTGAAGA 0.413000 7 62 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047521 73047521 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73047521G>A ENST00000604411.1 + 0 35482 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCAGAGAAAGGAGAGGTAGAC 0.418000 3 8 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11191366 11191366 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:11191366G>A ENST00000379446.5 - 5 902 c.736C>T c.(736-738)Ccc>Tcc p.P246S NEDD9_ENST00000504387.1_Missense_Mutation_p.P246S|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 246 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGTCTCATGGGAGGGGGGAAG 0.527000 11 50 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54792448 54792448 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54792448G>A ENST00000293379.4 - 28 3137 c.2876C>T c.(2875-2877)gCt>gTt p.A959V RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 959 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.A959V(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 TTTGTACACAGCCTCACACTG 0.567000 7 26 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31091409 31091409 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:31091409G>A ENST00000332585.6 + 1 617 c.513G>A c.(511-513)acG>acA p.T171T OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.T171T|OSBP2_ENST00000446658.2_Silent_p.T171T NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 171 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GGACTGGCACGACCTCCAGTG 0.617000 13 43 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252853 21252853 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21252853G>A ENST00000233242.1 - 11 1514 c.1387C>T c.(1387-1389)Ctg>Ttg p.L463L APOB_ENST00000399256.4_Silent_p.L463L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 463 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATGTCCAGCAGCTCCTGGGTC 0.428000 7 88 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34874019 34874019 + Missense_Mutation SNP G G A rs116249859 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:34874019G>A ENST00000360581.1 + 6 832 c.704G>A c.(703-705)cGa>cAa p.R235Q NPSR1_ENST00000381542.1_Missense_Mutation_p.R169Q|NPSR1_ENST00000359791.1_Missense_Mutation_p.R235Q|NPSR1_ENST00000531252.1_Missense_Mutation_p.R224Q|NPSR1_ENST00000381539.3_Missense_Mutation_p.R235Q NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 235 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity p.R235Q(4) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ATTGTGATCCGAACTATTTGG 0.438000 6 64 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671848 54671848 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:54671848C>T ENST00000332822.4 + 1 789 c.264C>T c.(262-264)ccC>ccT p.P88P NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 88 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) AGGAccggcccggcgggggcg 0.726000 4 21 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40699896 40699896 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40699896C>T ENST00000249760.2 + 2 547 c.204C>T c.(202-204)atC>atT p.I68I IVD_ENST00000479013.2_Intron|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Silent_p.I71I NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 68 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) CCCAGGAGATCGATCGCAGCA 0.582000 10 75 0 0 1 0 0 PTPRA 5786 broad.mit.edu 37 20 2945772 2945772 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2945772C>T ENST00000216877.6 + 5 739 c.339C>T c.(337-339)ttC>ttT p.F113F PTPRA_ENST00000318266.5_Silent_p.F113F|PTPRA_ENST00000356147.3_Silent_p.F113F|PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Silent_p.F113F|PTPRA_ENST00000425918.2_Silent_p.F124F|PTPRA_ENST00000380393.3_Silent_p.F113F NM_080840.2 NP_543030.1 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 113 axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ATAACCAGTTCACGGATGCCA 0.468000 13 76 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348594 30348594 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:30348594C>T ENST00000327564.7 + 1 571 c.510C>T c.(508-510)aaC>aaT p.N170N LRRC37B_ENST00000584368.1_Silent_p.N155N|LRRC37B_ENST00000341671.7_Silent_p.N143N|LRRC37B_ENST00000394713.3_Silent_p.N143N|LRRC37B_ENST00000543378.2_Silent_p.N61N Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 143 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GGGATCAGAACCAGGCCCTAG 0.527000 7 76 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438522 25438522 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:25438522C>T ENST00000424208.1 + 0 1381 SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 ACTTAAAAATCATGCTCAATA 0.512000 42 311 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62223901 62223901 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62223901G>A ENST00000266068.1 - 7 1292 c.814C>T c.(814-816)Ccc>Tcc p.P272S GMEB2_ENST00000370077.1_Missense_Mutation_p.P272S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P221S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 272 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) AGCTGCAGGGGAGGGTCCTGG 0.652000 6 35 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66084440 66084440 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:66084440G>A ENST00000311330.3 - 1 75 c.59C>T c.(58-60)cCc>cTc p.P20L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 20 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) AGCAGCCCAGGGGTCCTGGCC 0.771000 3 9 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003387 50003387 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:50003387C>T ENST00000335238.4 - 1 684 c.651G>A c.(649-651)gtG>gtA p.V217V NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCAAGATGATCACATAGGATA 0.398000 6 46 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206165277 206165277 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:206165277C>T ENST00000406610.2 + 17 2416 c.2209C>T c.(2209-2211)Cca>Tca p.P737S PARD3B_ENST00000462231.1_Missense_Mutation_p.P737S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P675S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P737S|PARD3B_ENST00000351153.1_Intron NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 737 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGATTTTGGTCCAACTCTGGG 0.488000 11 101 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 7866502 7866502 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:7866502C>T ENST00000344293.5 + 2 594 c.388C>T c.(388-390)Ccc>Tcc p.P130S NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 130 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 TTACCTGCCACCCATTGTGTC 0.368000 12 65 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79118200 79118200 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:79118200G>A ENST00000442371.1 + 3 1842 c.903G>A c.(901-903)caG>caA p.Q301Q GCNT1_ENST00000536223.1_Silent_p.Q301Q|GCNT1_ENST00000376730.4_Silent_p.Q301Q|GCNT1_ENST00000444201.2_Silent_p.Q301Q NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 301 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 ATGTACTACAGAATGAAAAAA 0.488000 10 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604841 179604841 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179604841C>T ENST00000589042.1 - 48 13343 c.13119G>A c.(13117-13119)caG>caA p.Q4373Q TTN_ENST00000460472.2_Silent_p.Q4010Q|TTN_ENST00000359218.5_Silent_p.Q4135Q|TTN_ENST00000591111.1_Silent_p.Q4056Q|TTN_ENST00000342175.6_Silent_p.Q4202Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4056 Ig-like 23. 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) GGTCCCTTCCCTGTACCTCCT 0.468000 8 46 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52941503 52941503 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:52941503C>T ENST00000332323.6 + 4 890 c.829C>T c.(829-831)Cat>Tat p.H277Y ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.H264Y|ZNF534_ENST00000432303.2_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TCAGAAAATTCATACTGGACA 0.388000 8 31 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898892 175898892 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:175898892C>T ENST00000359240.3 + 5 2886 c.2216C>T c.(2215-2217)tCc>tTc p.S739F RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.S739F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S739F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S739F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 739 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTGATGCCTTCCCAGAGTCAA 0.527000 10 80 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891609 18891609 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:18891609G>A ENST00000317658.3 + 1 565 c.407G>A c.(406-408)gGa>gAa p.G136E NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 136 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.G136A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TATCCAAAAGGAAATTGCAAC 0.403000 5 45 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171076824 171076824 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:171076824A>G ENST00000367755.4 + 4 441 c.330A>G c.(328-330)gtA>gtG p.V110V FMO3_ENST00000538429.1_Silent_p.V47V|FMO3_ENST00000542847.1_Silent_p.V90V|FMO3_ENST00000392085.2_Silent_p.V110V NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 110 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGACATTTGTATCCAGTGTAA 0.363000 3 29 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55119209 55119209 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55119209C>T ENST00000414150.2 + 3 888 c.610C>T c.(610-612)Cca>Tca p.P204S MROH7_ENST00000339553.5_Missense_Mutation_p.P204S|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.P204S|MROH7_ENST00000421030.2_Missense_Mutation_p.P204S|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron maestro heat-like repeat family member 7 ACTCCTTATTCCAACCTCAAA 0.463000 22 64 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63059015 63059015 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63059015G>A ENST00000332793.6 + 2 408 c.406G>A c.(406-408)Gac>Aac p.D136N SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.D84N|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 136 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTCCAGTGGGACCTGGTATG 0.463000 6 59 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126068435 126068435 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:126068435G>A ENST00000299308.3 + 5 1325 c.1317G>A c.(1315-1317)aaG>aaA p.K439K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 439 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TCACTGGAAAGCCTGTTTCAG 0.527000 24 231 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337918 40337918 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:40337918C>T ENST00000310169.2 + 2 278 c.139C>T c.(139-141)Cgt>Tgt p.R47C NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 47 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TAATGCTCTTCGTCCAGTGGA 0.423000 13 59 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42310424 42310424 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:42310424G>A ENST00000217026.4 + 3 242 c.114_splice c.e3-1 p.D39_splice MYBL2_ENST00000396863.4_Intron NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 39 HTH myb-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GTGTTGGCAGGACGAGCAGCT 0.582000 4 65 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10933880 10933880 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:10933880G>A ENST00000298232.7 - 16 1312 c.945C>T c.(943-945)atC>atT p.I315I TPTE_ENST00000342420.5_Silent_p.I295I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I333I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 333 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I333I(1)|p.I315I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAATCGCTACGATGTTTTCAA 0.313000 14 191 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49425616 49425616 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49425616G>A ENST00000405315.4 + 13 1655 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M NUCB1_ENST00000263273.5_Missense_Mutation_p.V441M|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_Missense_Mutation_p.V441M NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 441 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) CCAGAAGGAGGTGGACACTTC 0.602000 11 134 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087601 9087601 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9087601G>A ENST00000397910.4 - 1 4417 c.4214C>T c.(4213-4215)tCa>tTa p.S1405L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1405 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 AAATCCAGATGATTTTTCTGC 0.458000 15 92 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47809029 47809029 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:47809029G>A ENST00000273857.4 - 2 98 c.99C>T c.(97-99)ggC>ggT p.G33G CORIN_ENST00000505909.1_Silent_p.G33G|CORIN_ENST00000504584.1_Silent_p.G33G|CORIN_ENST00000502252.1_Silent_p.G33G NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 33 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCTGAGAGCAGCCATTGCCCA 0.433000 3 12 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9538848 9538848 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:9538848G>A ENST00000352665.5 + 11 1516 c.1447G>A c.(1447-1449)Ggg>Agg p.G483R WDR16_ENST00000396219.3_Missense_Mutation_p.G415R|WDR16_ENST00000299764.5_Missense_Mutation_p.G493R|WDR16_ENST00000576714.1_3'UTR NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 483 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 CAGCACCGATGGGACTTGTAT 0.502000 9 42 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113293492 113293492 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:113293492G>A ENST00000297405.5 - 59 9663 c.9419C>T c.(9418-9420)tCc>tTc p.S3140F CSMD3_ENST00000352409.3_Missense_Mutation_p.S3070F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S3100F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2971F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3140 Sushi 23. 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 CTCCATGCAGGAATAAATGAC 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 38 0 0 1 0 0 ZNF708 7562 broad.mit.edu 37 19 21476499 21476499 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:21476499T>C ENST00000356929.3 - 4 1466 c.1269A>G c.(1267-1269)gaA>gaG p.E423E NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TACCACATTCTTCACATTTGT 0.338000 7 26 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919969 48919969 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48919969C>T ENST00000310194.1 + 1 555 c.555C>T c.(553-555)ctC>ctT p.L185L OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CATCCCTCCTCCCTCTGTCCT 0.488000 10 56 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918217 51918217 + Silent SNP G G A rs141026130 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51918217G>A ENST00000356298.5 - 8 1592 c.1476C>T c.(1474-1476)ttC>ttT p.F492F SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Silent_p.F434F|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000339313.5_Silent_p.F492F NM_033130.4 NP_149121.2 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 492 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGTGACCTCGAAGGAGTCCT 0.701000 8 51 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58253007 58253007 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:58253007G>A ENST00000249750.4 - 12 2212 c.1445C>T c.(1444-1446)cCc>cTc p.P482L ALDH1A2_ENST00000537372.1_Missense_Mutation_p.P461L|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P444L|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.P386L|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.P453L NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 482 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCCCCCAAAGGGGCTCTGGGC 0.428000 9 58 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71843061 71843061 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:71843061C>T ENST00000373545.3 - 18 2296 c.1858G>A c.(1858-1860)Gac>Aac p.D620N PHKA1_ENST00000373539.3_Missense_Mutation_p.D620N|PHKA1_ENST00000373542.4_Missense_Mutation_p.D620N|PHKA1_ENST00000541944.1_Missense_Mutation_p.D620N|PHKA1_ENST00000339490.3_Missense_Mutation_p.D620N P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 620 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GGTCCAGGGTCCATGAAGCTC 0.393000 6 26 0 0 1 0 0 CFHR2 3080 broad.mit.edu 37 1 196928109 196928109 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196928109G>A ENST00000367415.4 + 5 826 c.712G>A c.(712-714)Gaa>Aaa p.E238K CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.E238K NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 238 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 TGACATAGTTGAATTTGTTTG 0.308000 6 32 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38893924 38893924 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38893924A>T ENST00000359357.3 + 72 10659 c.10405A>T c.(10405-10407)Ata>Tta p.I3469L RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3433L|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3686L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCCACTCCTCATAGACCCACA 0.413000 13 115 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738706 138738706 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:138738706C>T ENST00000329447.5 - 1 1062 c.798G>A c.(796-798)taG>taA p.*266* MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 0 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGTGGGGGTCTATGCCTGGA 0.632000 5 51 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139642981 139642981 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:139642981C>T ENST00000303045.6 - 50 4066 c.3620G>A c.(3619-3621)gGa>gAa p.G1207E COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1187E NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1207 Collagen-like 11.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCTGCAATTCCATCTGCCCC 0.448000 HNSCC(7;0.00092) 22 110 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566373 41566373 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:41566373G>A ENST00000396942.1 - 17 2004 c.1921C>T c.(1921-1923)Ctg>Ttg p.L641L ANK1_ENST00000289734.7_Silent_p.L641L|ANK1_ENST00000352337.4_Silent_p.L641L|ANK1_ENST00000379758.2_Silent_p.L641L|ANK1_ENST00000265709.8_Silent_p.L674L|ANK1_ENST00000347528.4_Silent_p.L641L|ANK1_ENST00000396945.1_Silent_p.L641L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 641 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGGCGGCCAGGTGAAGGGGC 0.617000 18 92 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43351592 43351592 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:43351592C>T ENST00000395891.1 + 4 863 c.258C>T c.(256-258)tcC>tcT p.S86S HECW1_ENST00000453890.1_Silent_p.S86S NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 86 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 TCAGCAGCTCCTACTATTCCA 0.607000 4 67 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401661 140401661 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:140401661C>T ENST00000286349.3 + 2 890 c.699C>T c.(697-699)tcC>tcT p.S233S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 233 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ACCGCTCCTCCGGGCCCATCC 0.622000 4 95 0 0 1 0 0 ACVR1 90 broad.mit.edu 37 2 158636952 158636952 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:158636952C>T ENST00000263640.3 - 4 657 c.228G>A c.(226-228)caG>caA p.Q76Q ACVR1_ENST00000434821.1_Silent_p.Q76Q|ACVR1_ENST00000409283.2_Silent_p.Q76Q|ACVR1_ENST00000410057.2_Silent_p.Q76Q|ACVR1_ENST00000487456.1_5'UTR NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 76 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) TCATCTTTCCCTGCTCATAAA 0.567000 10 87 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7985359 7985359 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7985359G>A ENST00000543909.1 - 8 898 c.139C>T c.(139-141)Cag>Tag p.Q47* SLC2A14_ENST00000396589.2_Nonsense_Mutation_p.Q47*|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Nonsense_Mutation_p.Q62*|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000431042.2_Nonsense_Mutation_p.Q24*|SLC2A14_ENST00000340749.5_Nonsense_Mutation_p.Q24* Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 47 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) TAGCCAAACTGGAAAGAGCCG 0.468000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 65 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64606080 64606080 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:64606080G>A ENST00000371079.1 + 6 1274 c.899G>A c.(898-900)gGa>gAa p.G300E ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.G300E|RP11-24J23.2_ENST00000424995.1_RNA NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 300 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ATCCGGATTGGAATTCCCATG 0.493000 21 53 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141952147 141952147 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141952147C>T ENST00000552471.1 - 5 939 c.620G>A c.(619-621)gGa>gAa p.G207E PRSS58_ENST00000547058.2_Missense_Mutation_p.G207E Q8IYP2 PRS58_HUMAN protease, serine, 58 207 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 AGACAGGATTCCTTGAAGCAT 0.398000 11 24 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477449 110477449 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110477449G>A ENST00000378402.5 + 49 8492 c.8388G>A c.(8386-8388)atG>atA p.M2796I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2796 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAATGGTAATGATTGATGTTG 0.373000 HNSCC(38;0.096) 9 40 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72301378 72301378 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72301378G>A ENST00000579490.1 + 8 1314 c.1179G>A c.(1177-1179)ggG>ggA p.G393G DNAI2_ENST00000307504.5_Silent_p.G193G|DNAI2_ENST00000446837.2_Silent_p.G336G|DNAI2_ENST00000311014.6_Silent_p.G336G|DNAI2_ENST00000582036.1_Silent_p.G336G Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 336 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCATGGTGGGGACCGAGCAGG 0.582000 Kartagener syndrome 6 47 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40703759 40703759 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40703759C>T ENST00000249760.2 + 6 899 c.556C>T c.(556-558)Cac>Tac p.H186Y IVD_ENST00000479013.2_Missense_Mutation_p.H159Y|IVD_ENST00000487418.2_Missense_Mutation_p.H189Y NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 186 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) CTTAGGAAATCACTACATCCT 0.507000 9 45 0 0 1 0 0 NOG 9241 broad.mit.edu 37 17 54671847 54671847 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:54671847C>A ENST00000332822.4 + 1 788 c.263C>A c.(262-264)cCc>cAc p.P88H NM_005450.4 NP_005441.1 Q13253 NOGG_HUMAN noggin 88 BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing extracellular space cytokine binding|protein homodimerization activity ovary(1) 1 Breast(9;5.24e-08) GAGGAccggcccggcgggggc 0.726000 4 21 0.150653 0.150812 1 1 0 AVIL 10677 broad.mit.edu 37 12 58204901 58204901 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:58204901C>T ENST00000537081.1 - 4 326 c.327G>A c.(325-327)caG>caA p.Q109Q AVIL_ENST00000257861.3_Silent_p.Q116Q O75366 AVIL_HUMAN advillin 116 Core (By similarity).|Polyphosphoinositide binding (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CGACACCCCCCTGCTTGTAGC 0.517000 8 101 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123787621 123787621 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:123787621C>T ENST00000422452.2 - 7 1244 c.1181G>A c.(1180-1182)gGa>gAa p.G394E TENM1_ENST00000371130.3_Missense_Mutation_p.G394E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TATCGCCCGTCCCTTCTGAAA 0.388000 22 51 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585410 70585410 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:70585410G>A ENST00000260126.3 - 10 2947 c.2241C>T c.(2239-2241)ttC>ttT p.F747F SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.F692F NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 747 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TAAACCCAACGAATTTGAGGC 0.488000 6 111 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785516 12785516 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12785516C>T ENST00000332530.3 + 3 622 c.396C>T c.(394-396)ttC>ttT p.F132F AADACL3_ENST00000359318.5_Silent_p.F202F NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 202 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACCTGGATTTCAGCTCCTCCT 0.468000 39 160 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629440 9629440 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:9629440G>A ENST00000382492.2 - 1 1023 c.705C>T c.(703-705)atC>atT p.I235I CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 235 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AGAAGTAGAGGATCAGGAAGG 0.488000 6 62 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165986573 165986573 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:165986573G>A ENST00000360093.3 - 17 3290 c.2799C>T c.(2797-2799)ttC>ttT p.F933F SCN3A_ENST00000283254.7_Silent_p.F933F|SCN3A_ENST00000409101.3_Silent_p.F884F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 933 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) ACACAATCAGGAAGGAGTGGA 0.498000 26 125 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157031535 157031535 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:157031535G>A ENST00000362010.2 - 11 2192 c.1885C>T c.(1885-1887)Cct>Tct p.P629S RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Intron|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.P629S|VEPH1_ENST00000543418.1_Intron NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 629 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGGGGTTCAGGAAACAGGCTC 0.453000 4 60 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389879 77389879 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:77389879G>A ENST00000282849.5 - 9 1836 c.1418C>T c.(1417-1419)tCa>tTa p.S473L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 473 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S473L(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGAAGACCATGAAAACACTCC 0.473000 12 68 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043641 184043641 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:184043641C>T ENST00000342981.4 + 20 3541 c.3127C>T c.(3127-3129)Cgt>Tgt p.R1043C EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1042C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042C NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1042 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGTGTCAGGCCGTGGACTTCC 0.547000 41 190 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15661699 15661699 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:15661699C>T ENST00000281171.4 + 7 1792 c.1462C>T c.(1462-1464)Cag>Tag p.Q488* PTPRO_ENST00000543886.1_Nonsense_Mutation_p.Q488*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.Q488* NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 488 Fibronectin type-III 5. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GTACTGCACTCAGGTAAAGGA 0.512000 4 28 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593518 11593518 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:11593518C>T ENST00000262442.3 + 20 4447 c.4379C>T c.(4378-4380)cCc>cTc p.P1460L DNAH9_ENST00000454412.2_Missense_Mutation_p.P1460L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1460 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCAATGTCCCCCTCCTGTGC 0.498000 7 55 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97956801 97956801 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:97956801G>A ENST00000224337.5 - 16 1255 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Missense_Mutation_p.R349W|BLNK_ENST00000413476.2_Intron NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 372 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) GAGCTTTTCCGAATAAGAAAT 0.279000 10 41 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6496110 6496110 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6496110G>A ENST00000264071.2 - 4 771 c.400C>T c.(400-402)Cag>Tag p.Q134* TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Nonsense_Mutation_p.Q134* P04350 TBB4_HUMAN tubulin, beta 4A class IVa 134 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity TGGGTCAGCTGGAAGCCCTGA 0.642000 11 71 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103155837 103155837 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103155837G>A ENST00000424685.2 - 50 8073 c.7914C>T c.(7912-7914)ttC>ttT p.F2638F RELN_ENST00000428762.1_Silent_p.F2638F|RELN_ENST00000343529.5_Silent_p.F2638F P78509 RELN_HUMAN reelin 2638 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCACCAGCGGAAGCGAGTGG 0.507000 12 35 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940831 144940831 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144940831G>A ENST00000525985.1 - 2 6662 c.6591C>T c.(6589-6591)ctC>ctT p.L2197L P58107 EPIPL_HUMAN epiplakin 1 2197 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGTCCTGGAGCATTTCCT 0.577000 25 212 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38746198 38746198 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38746198G>A ENST00000359357.3 + 12 1600 c.1346G>A c.(1345-1347)gGg>gAg p.G449E DNAH8_ENST00000441566.1_Missense_Mutation_p.G449E|DNAH8_ENST00000449981.2_Missense_Mutation_p.G666E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGTAGTTTTGGGAAAATCTTA 0.299000 12 85 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25422057 25422057 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:25422057G>A ENST00000441592.2 + 0 224 SNORD115-4_ENST00000363810.1_RNA TTACGCTGAGGCCCAGCCTAG 0.517000 49 278 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179431205 179431205 + Nonsense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179431205T>A ENST00000589042.1 - 326 79878 c.79654A>T c.(79654-79656)Aaa>Taa p.K26552* TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.K17487*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K17612*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.K24911*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K17679*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K23984*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24911 Fibronectin type-III 93. 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) TCAGTGAGTTTTGAAATTTCA 0.408000 9 140 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252693 124252693 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124252693G>A ENST00000375013.2 - 1 565 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGGAGGAGGGGGAGTATGTCA 0.502000 6 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179444693 179444693 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179444693C>T ENST00000589042.1 - 318 67545 c.67321G>A c.(67321-67323)Gaa>Aaa p.E22441K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13376K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13501K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20800K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13568K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19873K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20800 Ig-like 116. 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) TCACGAGTTTCACCGGGATCA 0.423000 10 83 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40980866 40980866 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:40980866C>T ENST00000373198.3 - 10 1855 c.1620G>A c.(1618-1620)ggG>ggA p.G540G PTPRT_ENST00000373190.1_Silent_p.G540G|PTPRT_ENST00000373193.3_Silent_p.G540G|PTPRT_ENST00000373187.1_Silent_p.G540G|PTPRT_ENST00000373184.1_Silent_p.G540G|PTPRT_ENST00000356100.2_Silent_p.G540G|PTPRT_ENST00000373201.1_Silent_p.G540G NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 540 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGAACACTTTCCCCCTCTGGC 0.527000 13 95 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16740833 16740833 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:16740833C>T ENST00000381323.3 - 10 952 c.732G>A c.(730-732)acG>acA p.T244T FAM49A_ENST00000355549.2_Silent_p.T244T|FAM49A_ENST00000406434.1_Silent_p.T244T NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 244 intracellular p.T244T(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TCTCTTCACTCGTAAACCTAC 0.493000 18 62 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47590131 47590131 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:47590131G>A ENST00000172229.3 + 6 1169 c.1044G>A c.(1042-1044)gaG>gaA p.E348E RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Silent_p.E254E NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 348 Death. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) AGGAGGTGGAGAAGCTTCTCA 0.652000 11 102 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117033271 117033271 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:117033271G>A ENST00000371876.1 - 6 3836 c.1415C>T c.(1414-1416)aCt>aTt p.T472I KLHL13_ENST00000539496.1_Missense_Mutation_p.T526I|KLHL13_ENST00000371882.1_Missense_Mutation_p.T472I|KLHL13_ENST00000545703.1_Missense_Mutation_p.T481I|KLHL13_ENST00000371878.1_Missense_Mutation_p.T472I|KLHL13_ENST00000541812.1_Missense_Mutation_p.T507I|KLHL13_ENST00000262820.3_Missense_Mutation_p.T523I|KLHL13_ENST00000540167.1_Missense_Mutation_p.T507I|KLHL13_ENST00000469946.1_Missense_Mutation_p.T472I Q9P2N7 KLH13_HUMAN kelch-like family member 13 523 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ACCTCTGACAGTGGTCATTGG 0.438000 57 173 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42936680 42936680 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42936680G>A ENST00000304611.8 - 6 1480 c.1411C>T c.(1411-1413)Ccc>Tcc p.P471S PEX6_ENST00000244546.4_Missense_Mutation_p.P471S NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 471 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CAGCCTGGGGGGCCCCGTAGA 0.557000 9 105 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95606905 95606905 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:95606905T>G ENST00000324972.6 + 7 816 c.623T>G c.(622-624)gTg>gGg p.V208G DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V171G|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V188G|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V191G|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V171G|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V191G NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 208 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AAACAGGAAGTGAAGGAAGGT 0.328000 3 34 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30046450 30046450 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:30046450G>A ENST00000331968.5 - 18 2962 c.2733C>T c.(2731-2733)atC>atT p.I911I PRKD1_ENST00000415220.2_Silent_p.I919I NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 911 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GAACTCAGAGGATGCTGACAC 0.443000 5 45 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58772997 58772997 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:58772997C>T ENST00000269829.4 + 7 1499 c.1025C>T c.(1024-1026)tCt>tTt p.S342F ZNF544_ENST00000600220.1_Missense_Mutation_p.S314F|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S314F|ZNF544_ENST00000599953.1_Missense_Mutation_p.S200F|ZNF544_ENST00000596652.1_Missense_Mutation_p.S342F|ZNF544_ENST00000415203.2_Missense_Mutation_p.S314F|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCATCTTTTTCTGACTGTAAC 0.473000 6 56 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160214 104160214 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104160214G>A ENST00000414303.2 + 1 216 c.152G>A c.(151-153)gGa>gAa p.G51E NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 51 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) GCTCCGAAGGGATTTGGAGGG 0.423000 44 370 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603668 5603668 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:5603668G>A ENST00000423158.3 + 2 539 c.327G>A c.(325-327)caG>caA p.Q109Q NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.Q96Q NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 96 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 TGCGACAACAGAGACGCTACA 0.647000 6 63 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89895099 89895099 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:89895099C>A ENST00000435811.1 - 6 1129 c.675G>T c.(673-675)cgG>cgT p.R225R GABRR1_ENST00000369451.3_Silent_p.R155R|GABRR1_ENST00000454853.2_Silent_p.R242R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 242 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGAGTGAGATCCGTTCATCTG 0.488000 12 90 5.16669e-11 5.22917e-11 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16959698 16959698 + RNA SNP G G A rs9730434 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16959698G>A ENST00000412962.1 - 0 74 p.H56H(4) GGTCCTTCTCGTGGAGCACCT 0.657000 8 35 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128841 152128841 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152128841C>T ENST00000316073.3 - 3 798 c.734G>A c.(733-735)aGa>aAa p.R245K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 245 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TTGTGTATGTCTTTCAGACTG 0.423000 23 185 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46518165 46518165 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46518165G>A ENST00000275016.2 - 12 1551 c.1348C>T c.(1348-1350)Cat>Tat p.H450Y NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 450 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 CCCACCAAATGGAGATAACTC 0.413000 4 39 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52952597 52952597 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:52952597G>C ENST00000349258.4 - 4 1893 c.1349C>G c.(1348-1350)cCg>cGg p.P450R THSD1_ENST00000544466.1_Missense_Mutation_p.P124R|THSD1_ENST00000258613.4_Missense_Mutation_p.P503R NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 503 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) GGGAGGTACCGGCCCGCTCCG 0.657000 24 99 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110170075 110170075 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:110170075C>T ENST00000256578.3 + 8 1407 c.1047C>T c.(1045-1047)taC>taT p.Y349Y AMPD2_ENST00000342115.4_Silent_p.Y268Y|AMPD2_ENST00000358729.4_Silent_p.Y274Y|AMPD2_ENST00000393688.3_Silent_p.Y230Y|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Silent_p.Y349Y|AMPD2_ENST00000528454.1_Silent_p.Y231Y NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 349 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) AGCTGCCATACCCTGACCTGC 0.597000 24 95 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824815 74824815 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:74824815C>T ENST00000256362.4 + 2 1570 c.1329C>T c.(1327-1329)gcC>gcT p.A443A NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 443 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGCGAAAGGCCCTCCGGAGGA 0.567000 13 49 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54219310 54219310 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:54219310G>A ENST00000259782.4 + 9 1222 c.e9-1 NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) TTTTATTTTAGCCATAATGCA 0.333000 16 52 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910307 10910307 + Splice_Site SNP C C T rs147571556 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:10910307C>T ENST00000298232.7 - 21 1762 c.1395_splice c.e21+1 p.S465_splice TPTE_ENST00000342420.5_Splice_Site_p.S445_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S483_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 483 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GATTACTCACCGAATAGAAAA 0.373000 4 75 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566361 41566361 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:41566361C>T ENST00000396942.1 - 17 2016 c.1933G>A c.(1933-1935)Gag>Aag p.E645K ANK1_ENST00000289734.7_Missense_Mutation_p.E645K|ANK1_ENST00000352337.4_Missense_Mutation_p.E645K|ANK1_ENST00000379758.2_Missense_Mutation_p.E645K|ANK1_ENST00000265709.8_Missense_Mutation_p.E678K|ANK1_ENST00000347528.4_Missense_Mutation_p.E645K|ANK1_ENST00000396945.1_Missense_Mutation_p.E645K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 645 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCGTGGCCCTCCTGGGCGGCC 0.627000 18 100 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404006 197404006 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197404006G>A ENST00000367397.1 + 5 2014 c.1156G>A c.(1156-1158)Gat>Aat p.D386N CRB1_ENST00000535699.1_Missense_Mutation_p.D981N|CRB1_ENST00000367400.3_Missense_Mutation_p.D1005N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.D486N|CRB1_ENST00000367399.2_Missense_Mutation_p.D893N P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1005 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TAGCATTCAAGATTCCAGATT 0.363000 5 57 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039574 55039574 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55039574C>T ENST00000370862.3 + 1 525 c.189C>T c.(187-189)atC>atT p.I63I NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 63 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGTACATCATCGTGTTCGTCG 0.612000 10 72 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57983134 57983134 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57983134G>A ENST00000309433.6 + 1 918 c.918G>A c.(916-918)agG>agA p.R306R NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) ACAGCTTGAGGAATAAGGATA 0.438000 26 110 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35207556 35207556 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:35207556G>A ENST00000274938.7 + 8 857 c.857G>A c.(856-858)gGg>gAg p.G286E SCUBE3_ENST00000394681.1_Missense_Mutation_p.G302E NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 286 EGF-like 7; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 TTAAACAACGGGGGCTGTGAC 0.463000 20 87 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477071 110477071 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110477071C>T ENST00000378402.5 + 49 8114 c.8010C>T c.(8008-8010)ttC>ttT p.F2670F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2670 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCCTTCAGTTCCATAACTTTG 0.453000 HNSCC(38;0.096) 7 90 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454485 84454485 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:84454485C>T ENST00000377084.2 - 1 2043 c.1158G>A c.(1156-1158)aaG>aaA p.K386K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 386 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGCTGTGGATCTTGTTATCTC 0.448000 16 135 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560825 210560825 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:210560825T>G ENST00000360351.4 + 7 4437 c.3931T>G c.(3931-3933)Ttt>Gtt p.F1311V MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.F1307V|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1311 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CAGCGTGCGTTTTGCAGCCCT 0.507000 6 76 0 0 1 0 0 FAM46B 115572 broad.mit.edu 37 1 27333296 27333296 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27333296G>A ENST00000289166.5 - 2 582 c.417C>T c.(415-417)tcC>tcT p.S139S NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 139 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) TCAGCTGGAAGGATGCCTCAC 0.627000 7 121 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171939 56171939 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56171939C>T ENST00000450554.2 + 4 1247 c.288C>T c.(286-288)ccC>ccT p.P96P U2AF2_ENST00000308924.4_Silent_p.P96P NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 96 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ACGTGCCACCCCCAGGCTTTG 0.632000 5 63 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95609032 95609032 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:95609032G>A ENST00000395505.2 - 3 2021 c.1929C>T c.(1927-1929)ctC>ctT p.L643L ZNF484_ENST00000395506.3_Silent_p.L681L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Silent_p.L643L|ZNF484_ENST00000375495.3_Silent_p.L679L NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GATGTATATGGAGACCTGACT 0.403000 14 43 0 0 1 0 0 SLC13A2 9058 broad.mit.edu 37 17 26820742 26820742 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:26820742C>T ENST00000444914.3 + 7 1599 c.1179C>T c.(1177-1179)ttC>ttT p.F393F SLC13A2_ENST00000545060.1_Silent_p.F301F|SLC13A2_ENST00000314669.5_Silent_p.F344F|SLC13A2_ENST00000537681.1_Silent_p.F273F NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 344 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TGCTCTGGTTCACCCGGGAGC 0.577000 5 75 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21343407 21343407 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:21343407G>A ENST00000313654.9 + 8 1343 c.1102G>A c.(1102-1104)Gat>Aat p.D368N LAMA3_ENST00000399516.3_Missense_Mutation_p.D368N NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 368 Domain V.|Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTTACTATGATCCAGATGT 0.438000 11 44 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27244026 27244026 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:27244026G>A ENST00000429845.2 - 25 2475 c.2113C>T c.(2113-2115)Ccg>Tcg p.P705S NEK10_ENST00000383770.3_Missense_Mutation_p.P17S|NEK10_ENST00000383771.4_Missense_Mutation_p.P17S|NEK10_ENST00000357467.2_Missense_Mutation_p.P102S|NEK10_ENST00000295720.6_Missense_Mutation_p.P17S Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 705 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCCCCATACGGCTCACTCTTC 0.473000 6 32 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364501 29364501 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29364501G>A ENST00000383555.2 + 1 86 c.25G>A c.(25-27)Gaa>Aaa p.E9K OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E9K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CTCAGTCACCGAATTTCTCCT 0.433000 36 209 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934657 113934657 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:113934657C>T ENST00000335953.4 + 2 1015 c.635C>T c.(634-636)tCt>tTt p.S212F ZBTB16_ENST00000392996.2_Missense_Mutation_p.S212F NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 212 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) ATAGGACAGTCTCTCCTGCAG 0.602000 3 36 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169362602 169362602 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:169362602C>T ENST00000511577.1 - 10 1427 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K DDX60L_ENST00000505890.1_Missense_Mutation_p.E394K|DDX60L_ENST00000260184.7_Missense_Mutation_p.E394K Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 394 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CACAGGTCTTCATAATCCCTC 0.353000 12 56 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408827 130408827 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130408827G>A ENST00000370904.1 - 24 4380 c.3470C>T c.(3469-3471)tCa>tTa p.S1157L IGSF1_ENST00000361420.3_Missense_Mutation_p.S1166L|IGSF1_ENST00000370903.3_Missense_Mutation_p.S1171L|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1157L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1166 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGGCCAGGCTGACAGAGAGGG 0.483000 22 83 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123046465 123046465 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:123046465C>T ENST00000462833.1 - 7 3159 c.1947_splice c.e7+1 p.R649_splice ADCY5_ENST00000491190.1_Splice_Site_p.R282_splice|ADCY5_ENST00000309879.5_Splice_Site_p.R299_splice NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 649 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GCCCACAGACCCGCTTCTGGG 0.622000 3 28 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232325244 232325244 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:232325244C>T ENST00000322723.4 - 5 1083 c.843G>A c.(841-843)aaG>aaA p.K281K NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 281 angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) CCATTTCCTTCTTTCGTTTTC 0.428000 13 113 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71543030 71543030 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:71543030C>T ENST00000304743.2 + 28 5677 c.5231C>T c.(5230-5232)cCa>cTa p.P1744L PCNX_ENST00000238570.5_Missense_Mutation_p.P1672L|PCNX_ENST00000439984.3_Missense_Mutation_p.P1633L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1744 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ACCTTTAATCCAAACATTGAT 0.468000 13 63 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995073 140995073 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140995073C>T ENST00000285879.4 + 4 2169 c.1883C>T c.(1882-1884)cCt>cTt p.P628L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 628 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCAGAGCCCTGTGAGCATC 0.567000 HNSCC(15;0.026) 38 291 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353263 42353263 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42353263C>T ENST00000269945.3 + 6 745 c.694C>T c.(694-696)Cac>Tac p.H232Y DMRTC2_ENST00000596827.1_Missense_Mutation_p.H232Y NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 232 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CCCAGGATCTCACCCAGTACT 0.562000 18 168 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10622534 10622534 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:10622534C>T ENST00000547195.1 - 14 2175 c.1675G>A c.(1675-1677)Gac>Aac p.D559N MRVI1_ENST00000424001.1_Missense_Mutation_p.D335N|MRVI1_ENST00000531107.1_Missense_Mutation_p.D642N|MRVI1_ENST00000552103.1_Missense_Mutation_p.D559N|MRVI1_ENST00000558540.1_Missense_Mutation_p.D335N|MRVI1_ENST00000545852.1_Missense_Mutation_p.D335N|MRVI1_ENST00000421747.1_Missense_Mutation_p.D641N|MRVI1_ENST00000423302.2_Missense_Mutation_p.D650N|MRVI1_ENST00000541483.1_Missense_Mutation_p.D444N|MRVI1_ENST00000527509.2_Missense_Mutation_p.D559N|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.D335N|MRVI1_ENST00000436272.1_Missense_Mutation_p.D623N NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 623 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCGCATGGTCCTTCTCATAC 0.522000 23 173 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109859567 109859567 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:109859567G>A ENST00000256637.6 - 17 2213 c.2155C>T c.(2155-2157)Cca>Tca p.P719S SORT1_ENST00000538502.1_Missense_Mutation_p.P582S NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 719 Interactions with LRPAP1 and NGFB. endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TTGTCCCCTGGAATTTTCCGG 0.413000 26 90 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56702279 56702279 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56702279C>T ENST00000586855.2 - 4 979 c.666G>A c.(664-666)gaG>gaA p.E222E ZSCAN5B_ENST00000358992.3_Silent_p.E222E A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 222 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCAGATCCTTCTCCAAGGTCT 0.502000 12 70 0 0 1 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794525 18794525 + Silent SNP C C T rs144518160 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:18794525C>T ENST00000377428.2 + 1 156 c.66C>T c.(64-66)ttC>ttT p.F22F C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 TGGGCCAGTTCGAGGTTCTGG 0.512000 4 40 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19467928 19467928 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:19467928G>A ENST00000375267.2 - 57 8404 c.8401C>T c.(8401-8403)Ccc>Tcc p.P2801S UBR4_ENST00000375254.3_Missense_Mutation_p.P2801S|UBR4_ENST00000375217.2_Missense_Mutation_p.P2829S|UBR4_ENST00000375226.2_Missense_Mutation_p.P2812S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2801 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGCATGGGGGGGAAGCCCTCT 0.587000 17 93 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218683158 218683158 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:218683158G>A ENST00000171887.4 - 24 4037 c.3585C>T c.(3583-3585)ttC>ttT p.F1195F TNS1_ENST00000419504.1_Silent_p.F1182F|TNS1_ENST00000430930.1_Silent_p.F1174F NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1195 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CCCGCCAGCCGAAGCCAGGAC 0.637000 4 70 0 0 1 0 0 C20orf27 54976 broad.mit.edu 37 20 3736162 3736162 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:3736162G>A ENST00000379772.3 - 4 1065 c.255C>T c.(253-255)gtC>gtT p.V85V C20orf27_ENST00000217195.8_Silent_p.V110V NM_001258429.1 NP_001245358.1 Q9GZN8 CT027_HUMAN chromosome 20 open reading frame 27 85 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 7 GCAGGCTGGGGACAGGTGCCT 0.617000 8 40 0 0 1 0 0 IGHV4-4 28401 broad.mit.edu 37 14 106478165 106478165 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:106478165G>A ENST00000390596.2 - 0 356 CAGCTTCAGGGAGAACTGGTT 0.567000 5 250 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119461105 119461105 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:119461105G>A ENST00000450136.1 + 2 1245 c.1084G>A c.(1084-1086)Ggg>Agg p.G362R TRIM32_ENST00000373983.2_Missense_Mutation_p.G362R|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 362 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 CAAGAAGATGGGGGCCAAAGG 0.547000 18 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452073 179452073 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179452073G>A ENST00000589042.1 - 307 64089 c.63865C>T c.(63865-63867)Cct>Tct p.P21289S TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12224S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12349S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19648S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12416S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18721S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19648 Fibronectin type-III 54. 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) TTTTCAGGAGGGGCCCAGGAC 0.448000 9 25 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81545686 81545686 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81545686G>A ENST00000548058.1 + 6 1895 c.985G>A c.(985-987)Gga>Aga p.G329R ACSS3_ENST00000548324.1_Missense_Mutation_p.G11R|ACSS3_ENST00000261206.3_Missense_Mutation_p.G328R Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 329 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTCCATATACGGACTTCAACC 0.353000 6 63 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96698487 96698487 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:96698487C>T ENST00000260682.6 + 1 60 c.48C>T c.(46-48)ctC>ctT p.L16L CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 16 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GTTTGCTTCTCCTTTCACTCT 0.473000 16 189 0 0 1 0 0 SFXN1 94081 broad.mit.edu 37 5 174938461 174938461 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:174938461G>A ENST00000321442.5 + 5 696 c.442G>A c.(442-444)Gga>Aga p.G148R SFXN1_ENST00000502393.1_Missense_Mutation_p.G148R NM_022754.5 NP_073591.2 Q9H9B4 SFXN1_HUMAN sideroflexin 1 148 iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3) 15 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CAGTGAGTTGGGAACAGCTTA 0.398000 10 119 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951418 130951418 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:130951418C>T ENST00000312988.7 - 4 1097 c.997G>A c.(997-999)Gcc>Acc p.A333T NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 333 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TTGATGGTGGCGATGGCCGCA 0.547000 11 91 0 0 1 0 0 GPR171 29909 broad.mit.edu 37 3 150916903 150916903 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:150916903C>T ENST00000309180.5 - 3 501 c.271G>A c.(271-273)Gcc>Acc p.A91T MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 91 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGAGGCAGGCTGTTACTTGG 0.433000 13 62 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5730316 5730316 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5730316C>T ENST00000379965.3 + 8 1212 c.935C>T c.(934-936)tCg>tTg p.S312L TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 312 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) AGTGCCACTTCGAATGTTGCT 0.413000 8 82 0 0 1 0 0 GSDMC 56169 broad.mit.edu 37 8 130777904 130777904 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:130777904C>T ENST00000276708.4 - 4 1421 c.540G>A c.(538-540)ggG>ggA p.G180G NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 180 mitochondrion autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 GAGCAATTTTCCCTAAAATAT 0.438000 5 81 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54591200 54591200 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:54591200C>T ENST00000254442.3 + 22 3785 c.3574C>T c.(3574-3576)Cct>Tct p.P1192S WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P1159S NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1192 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CCCCAAACTTCCTCCACACAG 0.458000 5 54 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736237 7736237 + Nonsense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7736237T>G ENST00000572933.1 + 84 14429 c.12969T>G c.(12967-12969)taT>taG p.Y4323* DNAH2_ENST00000389173.2_Nonsense_Mutation_p.Y4323* Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4323 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCTAGTGTATCCCCCCAAGG 0.542000 47 156 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36766833 36766833 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:36766833G>A ENST00000399881.3 + 21 2148 c.2111G>A c.(2110-2112)cGa>cAa p.R704Q NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 704 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCTTAGAAACGAACTGGCAAG 0.468000 12 188 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095690 103095690 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103095690G>A ENST00000295269.4 + 2 1106 c.649G>A c.(649-651)Gaa>Aaa p.E217K NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 217 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CGTGTTTGAGGAAGCGCGCGT 0.607000 3 21 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205592993 205592993 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:205592993G>A ENST00000357992.4 - 2 357 c.18C>T c.(16-18)acC>acT p.T6T ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Silent_p.T6T NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) ACTGCCACAGGGTGATAGCAC 0.423000 T SLC45A3 prostate 6 80 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572332 142572332 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142572332G>A ENST00000359396.3 - 11 1609 c.1364C>T c.(1363-1365)tCc>tTc p.S455F NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 455 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAGTGCAAAGGACATGGGTAC 0.592000 24 52 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113812430 113812430 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:113812430C>T ENST00000297405.5 - 13 2177 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 645 CUB 3. 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 CCAACACTTTCGTCCGTTTGA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 45 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112141880 112141880 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:112141880G>A ENST00000412145.1 - 21 4858 c.2305C>T c.(2305-2307)Cgt>Tgt p.R769C PTPN3_ENST00000446349.1_Missense_Mutation_p.R724C|PTPN3_ENST00000374541.2_Missense_Mutation_p.R900C|PTPN3_ENST00000262539.3_Missense_Mutation_p.R746C|PTPN3_ENST00000394827.3_Missense_Mutation_p.R368C NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 900 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TCATACACACGAAGAATCGCT 0.443000 9 40 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900909 40900909 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:40900909G>A ENST00000324001.7 - 7 3620 c.3350C>T c.(3349-3351)gCc>gTc p.A1117V PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1117 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCACTGACGGCCACAGCCCC 0.667000 12 65 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228854 142228854 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:142228854C>T ENST00000519067.1 - 4 1035 c.732G>A c.(730-732)ctG>ctA p.L244L SLC45A4_ENST00000024061.3_Silent_p.L244L|SLC45A4_ENST00000517878.1_Silent_p.L295L|SLC45A4_ENST00000433583.2_Silent_p.L237L Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 295 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCGGGTAGTCCAGGGCCAGCT 0.692000 15 154 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776210 5776210 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5776210C>T ENST00000317254.3 + 1 288 c.240C>T c.(238-240)atC>atT p.I80I TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTAGTACAATCCCTAAAGCCC 0.458000 9 58 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356235 10356235 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10356235C>T ENST00000255381.2 - 25 3236 c.3126G>A c.(3124-3126)ctG>ctA p.L1042L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1042 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTTCTTGTTCCAGAGATCCTT 0.358000 13 85 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188328 72188328 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:72188328C>T ENST00000537465.1 - 4 354 c.196G>A c.(196-198)Gag>Aag p.E66K PMFBP1_ENST00000237353.10_Missense_Mutation_p.E66K|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 66 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) TCTGACTCCTCGAATGCTAAT 0.418000 14 74 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38808492 38808492 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:38808492T>G ENST00000310803.5 - 6 758 c.581A>C c.(580-582)aAa>aCa p.K194T RASGRP1_ENST00000559830.1_Missense_Mutation_p.K194T|RASGRP1_ENST00000450598.2_Missense_Mutation_p.K194T|RASGRP1_ENST00000561180.1_Missense_Mutation_p.K245T|RASGRP1_ENST00000558164.1_Missense_Mutation_p.K194T|RASGRP1_ENST00000539159.1_Missense_Mutation_p.K146T NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 194 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GACTTTCCGTTTCTTGCTGGT 0.463000 12 47 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347200 48347200 + Silent SNP C C T rs141730559 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48347200C>T ENST00000319856.4 + 1 729 c.708C>T c.(706-708)ttC>ttT p.F236F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTTGAACTTCCTCATGCTGG 0.522000 4 47 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753889 140753889 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140753889G>A ENST00000517434.1 + 1 239 c.239G>A c.(238-240)cGa>cAa p.R80Q PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAATCCGCGAAACGGCAGC 0.572000 11 69 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604621 108604621 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:108604621C>T ENST00000264047.2 + 2 286 c.10C>T c.(10-12)Cat>Tat p.H4Y SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.H4Y NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 4 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) AATGGCTTTCCATGTGGAAGG 0.418000 16 93 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820995 43820995 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43820995C>T ENST00000382031.1 + 5 8069 c.8038C>T c.(8038-8040)Cgg>Tgg p.R2680W MAP1A_ENST00000399453.1_Missense_Mutation_p.R2442W|MAP1A_ENST00000300231.5_Missense_Mutation_p.R2442W P78559 MAP1A_HUMAN microtubule-associated protein 1A 2442 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CACTGAGCCTCGGCCCCATCG 0.647000 12 47 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31763283 31763283 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31763283G>A ENST00000253362.2 + 5 627 c.481G>A c.(481-483)Gat>Aat p.D161N BPIFA2_ENST00000354932.5_Missense_Mutation_p.D161N Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 161 extracellular region lipid binding AATTGAAACTGATCCCCAGAC 0.512000 19 133 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208215709 208215709 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:208215709T>A ENST00000367033.3 - 22 4777 c.4020A>T c.(4018-4020)gtA>gtT p.V1340V NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1340 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) CGTTTCCTTGTACCTGGGGTG 0.617000 5 60 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46712996 46712996 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:46712996G>A ENST00000318962.4 - 25 2846 c.2763C>T c.(2761-2763)ttC>ttT p.F921F ALS2CL_ENST00000383742.3_Silent_p.F268F|ALS2CL_ENST00000415953.1_Silent_p.F921F NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 921 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CTGTGAGCAGGAAGTCATACA 0.592000 9 29 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547861 100547861 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:100547861G>A ENST00000372907.3 - 1 184 c.173C>T c.(172-174)cCt>cTt p.P58L TAF7L_ENST00000372905.2_5'UTR NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 58 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 CTCGTCGGCAGGAATCTGGGT 0.557000 36 97 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19501773 19501773 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19501773C>T ENST00000396229.2 + 18 3379 c.2630C>T c.(2629-2631)tCc>tTc p.S877F TMC5_ENST00000564959.1_Missense_Mutation_p.S560F|TMC5_ENST00000561503.1_Missense_Mutation_p.S518F|TMC5_ENST00000542583.2_Missense_Mutation_p.S877F|TMC5_ENST00000541464.1_Missense_Mutation_p.S825F|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.S631F NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 877 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTCATTCACTCCATCTACAGC 0.478000 33 150 0 0 1 0 0 KRTAP10-12 386685 broad.mit.edu 37 21 46117703 46117703 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:46117703C>T ENST00000400365.3 + 1 617 c.587C>T c.(586-588)tCc>tTc p.S196F TSPEAR_ENST00000323084.4_Intron NM_198699.1 NP_941972.1 P60413 KR10C_HUMAN keratin associated protein 10-12 196 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(8) 9 TCCTCCGTGTCCCTCCTCTGC 0.706000 9 155 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475590 42475590 + Silent SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42475590G>T ENST00000434000.1 - 9 3903 c.3621C>A c.(3619-3621)ccC>ccA p.P1207P GPATCH8_ENST00000591680.1_Silent_p.P1285P Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1285 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GATCCCCACTGGGAGGTGCAT 0.582000 9 153 0.000274275 0.000275778 1 1 0 ADCY4 196883 broad.mit.edu 37 14 24795355 24795355 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:24795355C>T ENST00000310677.4 - 13 1698 c.1585G>A c.(1585-1587)Gga>Aga p.G529R ADCY4_ENST00000396747.3_Missense_Mutation_p.G222R|ADCY4_ENST00000418030.2_Missense_Mutation_p.G529R|ADCY4_ENST00000554068.2_Missense_Mutation_p.G529R NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 529 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) TCATCTAGTCCCCGGGGGGTA 0.602000 12 45 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10720081 10720081 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:10720081C>T ENST00000377022.3 - 6 1335 c.1018G>A c.(1018-1020)Gac>Aac p.D340N CASZ1_ENST00000344008.5_Missense_Mutation_p.D340N NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TTCTCCAGGTCGTACTTGGAT 0.607000 21 158 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55638996 55638996 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55638996C>T ENST00000370830.3 - 4 1576 c.878G>A c.(877-879)gGa>gAa p.G293E BMP5_ENST00000446683.2_Missense_Mutation_p.G293E NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 293 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TGACTGAGGTCCCTGTCTTCC 0.433000 8 110 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538558 27538558 + RNA SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:27538558C>G ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA ATGGTAAGTCCCAGGTCCAAA 0.483000 17 171 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870681 51870681 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51870681C>T ENST00000371497.5 + 2 1571 c.684C>T c.(682-684)gtC>gtT p.V228V TSHZ2_ENST00000603338.2_Silent_p.V225V|TSHZ2_ENST00000329613.6_Silent_p.V225V NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 228 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACACCCTAGTCGAGCTGACTG 0.547000 5 41 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50611640 50611640 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:50611640C>T ENST00000444124.2 - 2 344 c.144G>A c.(142-144)caG>caA p.Q48Q DDC_ENST00000431062.1_Silent_p.Q48Q|DDC_ENST00000357936.5_Silent_p.Q48Q|DDC_ENST00000426377.1_Silent_p.Q48Q|DDC_ENST00000380984.4_Silent_p.Q48Q NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 48 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) TGTCTGGCTCCTGAGGGGCAG 0.557000 21 136 0 0 1 0 0 CPSF7 79869 broad.mit.edu 37 11 61178549 61178549 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:61178549G>A ENST00000340437.4 - 9 1491 c.1411C>T c.(1411-1413)Cct>Tct p.P471S CPSF7_ENST00000448745.1_Missense_Mutation_p.P419S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P419S|CPSF7_ENST00000394888.4_Missense_Mutation_p.P428S NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 428 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GACCGGCTAGGTGACCTTTCC 0.502000 7 101 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123683804 123683804 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123683804A>C ENST00000369043.3 - 2 233 c.147T>G c.(145-147)gaT>gaG p.D49E ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000224652.6_Missense_Mutation_p.D49E|ATE1_ENST00000540606.1_Missense_Mutation_p.D42E|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_5'UTR NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 49 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GGTCTATGAGATCCTGATAAT 0.388000 8 95 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60419758 60419758 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60419758G>A ENST00000360469.5 + 5 699 c.611G>A c.(610-612)cGg>cAg p.R204Q CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 204 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ATCCCCATCCGGTACAGCATC 0.607000 6 88 0 0 1 0 0 SCFD2 152579 broad.mit.edu 37 4 54011727 54011727 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:54011727G>A ENST00000401642.3 - 5 1467 c.1334C>T c.(1333-1335)tCc>tTc p.S445F SCFD2_ENST00000388940.4_Missense_Mutation_p.S445F NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 445 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) TAACACAACGGACATTGCTGA 0.373000 8 51 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198634 15198634 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15198634G>A ENST00000209540.2 + 1 844 c.758G>A c.(757-759)gGg>gAg p.G253E NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 CTGTCCTATGGGACCATCTTT 0.542000 6 41 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262304 61262304 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61262304C>T ENST00000344731.5 + 7 759 c.657C>T c.(655-657)tcC>tcT p.S219S SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 219 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 AGAGCCATTCCTTTAGCTTCA 0.423000 6 62 0 0 1 0 0 NXPE1 120400 broad.mit.edu 37 11 114393665 114393665 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:114393665G>A ENST00000536271.1 - 3 1435 c.192C>T c.(190-192)ctC>ctT p.L64L NXPE1_ENST00000424269.1_Silent_p.L348L|NXPE1_ENST00000251921.2_Silent_p.L206L neurexophilin and PC-esterase domain family, member 1 GGAGGTAAATGAGTTTGCCTT 0.373000 12 26 0 0 1 0 0 C1QC 714 broad.mit.edu 37 1 22973975 22973975 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:22973975A>G ENST00000374639.3 + 3 555 c.437A>G c.(436-438)aAc>aGc p.N146S C1QC_ENST00000374640.4_Missense_Mutation_p.N146S|C1QC_ENST00000374637.1_Missense_Mutation_p.N146S NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 146 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTCCTCACCAACCCGCAGGGA 0.562000 10 56 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49663592 49663592 + Silent SNP G G A rs145082626 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:49663592G>A ENST00000299338.6 - 12 1320 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TATTGAAGTCGATACCTAAAA 0.328000 21 77 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108723687 108723687 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108723687C>T ENST00000232603.5 - 20 2144 c.2062G>A c.(2062-2064)Gaa>Aaa p.E688K MORC1_ENST00000483760.1_Missense_Mutation_p.E667K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 688 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 AGGCACCCTTCAGTTGGTTGA 0.353000 46 253 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212908 131212908 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:131212908C>T ENST00000298542.4 - 12 1312 c.1137G>A c.(1135-1137)agG>agA p.R379R FRMD7_ENST00000464296.1_Silent_p.R364R|FRMD7_ENST00000370879.1_Silent_p.R259R NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 379 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) aattcctcctcctactctcca 0.493000 27 117 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116694 28116694 + Silent SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:28116694A>C ENST00000535992.1 - 3 457 c.111T>G c.(109-111)gcT>gcG p.A37A PTHLH_ENST00000545234.1_Silent_p.A37A|PTHLH_ENST00000201015.4_Silent_p.A37A|PTHLH_ENST00000538310.1_Silent_p.A37A|PTHLH_ENST00000395872.1_Silent_p.A37A|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_Silent_p.A37A|PTHLH_ENST00000354417.3_Silent_p.A37A|PTHLH_ENST00000539239.1_Silent_p.A37A P12272 PTHR_HUMAN parathyroid hormone-like hormone 37 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GTTCAGACACAGCTCTTTTGC 0.403000 10 108 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31086609 31086609 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:31086609C>T ENST00000597505.1 - 17 2389 c.2390G>A c.(2389-2391)tGg>tAg p.W797* DCDC1_ENST00000437348.1_5'UTR 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) AGCTGTGGTCCAGGCACCATG 0.443000 5 30 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27939619 27939619 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27939619C>T ENST00000374005.3 - 13 1684 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K FGR_ENST00000399173.1_Missense_Mutation_p.E466K|FGR_ENST00000374004.1_Missense_Mutation_p.E466K|FGR_ENST00000545953.1_Missense_Mutation_p.E400K NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 466 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity p.E466K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCCAACACTTCCCGTTTATTC 0.622000 12 61 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378035 19378035 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:19378035C>T ENST00000550708.1 + 1 514 c.442C>T c.(442-444)Cct>Tct p.P148S NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTGCTCTATCCTAATATCAT 0.448000 11 299 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088176 92088176 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:92088176G>A ENST00000256343.3 - 19 2192 c.2036C>T c.(2035-2037)gCc>gTc p.A679V NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 679 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GGTAGCAATGGCTAATGCATT 0.418000 7 39 0 0 1 0 0 TBCEL 219899 broad.mit.edu 37 11 120918248 120918248 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:120918248C>T ENST00000422003.2 + 3 333 c.145C>T c.(145-147)Ctc>Ttc p.L49F TBCEL_ENST00000529397.1_Missense_Mutation_p.L49F NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 49 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCGCCTCAACCTCCCAAGTGT 0.418000 7 72 0 0 1 0 0 FBXO27 126433 broad.mit.edu 37 19 39516062 39516062 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:39516062G>A ENST00000292853.4 - 6 960 c.841C>T c.(841-843)Cgt>Tgt p.R281C FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 281 protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TAGGACAGACGGACTCGCACG 0.587000 7 99 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28914126 28914126 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:28914126G>A ENST00000257192.4 + 8 1178 c.966G>A c.(964-966)atG>atA p.M322I NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 322 Cadherin 3. 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) AGATAGAAATGAATGAAAGAA 0.279000 7 49 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72255991 72255991 + Silent SNP C C T rs148288565 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:72255991C>T ENST00000305425.4 - 2 1328 c.906G>A c.(904-906)gaG>gaA p.E302E DACH1_ENST00000313174.7_Silent_p.E302E|DACH1_ENST00000359684.2_Silent_p.E302E|DACH1_ENST00000354591.4_Silent_p.E302E NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 300 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TGTGAGAGTTCTCTGGGGAGG 0.413000 3 32 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524426 112524426 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:112524426C>T ENST00000369697.1 - 1 992 c.923G>A c.(922-924)cGg>cAg p.R308Q KCND3_ENST00000315987.2_Missense_Mutation_p.R308Q|KCND3_ENST00000302127.4_Missense_Mutation_p.R308Q Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 308 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GCCCAGGATCCGCAGGCCCTG 0.562000 5 45 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554636 150554636 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150554636G>A ENST00000493429.1 + 4 1662 c.1078G>A c.(1078-1080)Gga>Aga p.G360R AOC1_ENST00000360937.4_Missense_Mutation_p.G360R|AOC1_ENST00000416793.2_Missense_Mutation_p.G360R|AOC1_ENST00000467291.1_Missense_Mutation_p.G360R amine oxidase, copper containing 1 GGCGCTGTATGGAGGACACAC 0.647000 10 119 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229845 21229845 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21229845G>A ENST00000233242.1 - 26 10022 c.9895C>T c.(9895-9897)Ctg>Ttg p.L3299L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3299 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGATGGCAGGATTAATGTG 0.443000 17 65 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166421 118166421 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:118166421C>T ENST00000369448.3 + 2 1178 c.931C>T c.(931-933)Cgc>Tgc p.R311C NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 311 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CATGATCCTTCGCAGGGTGGT 0.542000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 16 49 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63316527 63316527 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:63316527G>A ENST00000322893.7 - 8 1681 c.1413C>T c.(1411-1413)ttC>ttT p.F471F KCNH5_ENST00000394968.1_Silent_p.F413F|KCNH5_ENST00000420622.2_Silent_p.F471F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 471 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATTTGCTGGAAAATTGTTG 0.348000 9 50 0 0 1 0 0 RIMS4 140730 broad.mit.edu 37 20 43385614 43385614 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43385614G>A ENST00000372851.3 - 5 582 c.516C>T c.(514-516)gtC>gtT p.V172V RIMS4_ENST00000541604.2_Silent_p.V173V NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 172 C2. exocytosis|neurotransmitter transport cell junction|synapse p.V172V(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) ACTTGCGAGCGACTTTGGTCT 0.562000 35 335 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102641 61102641 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:61102641C>T ENST00000196169.3 + 11 1791 c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C TDRD3_ENST00000535286.1_Missense_Mutation_p.R428C|TDRD3_ENST00000377881.2_Missense_Mutation_p.R335C|TDRD3_ENST00000377894.2_Missense_Mutation_p.R335C NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 335 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AAAACCGCCTCGTTTTCAAAG 0.383000 8 72 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42355239 42355239 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:42355239C>T ENST00000373003.1 - 1 399 c.96G>A c.(94-96)aaG>aaA p.K32K GTSF1L_ENST00000373005.2_Silent_p.K32K NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 32 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTTGGGGTTCTTTCTCCTGC 0.498000 19 93 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44873329 44873329 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:44873329C>T ENST00000395794.2 - 4 334 c.291G>A c.(289-291)ggG>ggA p.G97G CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395793.3_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TCACCCTCTTCCCGGCTGGTG 0.612000 3 8 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91172590 91172590 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:91172590C>T ENST00000420329.2 + 11 1239 c.1092C>T c.(1090-1092)ctC>ctT p.L364L CRTC3_ENST00000268184.6_Silent_p.L364L|RP11-387D10.2_ENST00000559531.1_RNA NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 364 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) ACCCTTCGCTCCGTCTGTTTT 0.557000 T MAML2 salivary gland mucoepidermoid 23 298 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1558801 1558801 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:1558801C>T ENST00000357210.4 + 3 359 c.143C>T c.(142-144)tCt>tTt p.S48F MIB2_ENST00000355826.5_Intron|MIB2_ENST00000504599.1_Missense_Mutation_p.S4F|MIB2_ENST00000378710.3_Missense_Mutation_p.S48F|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Missense_Mutation_p.S105F|MIB2_ENST00000520777.1_Missense_Mutation_p.S105F|MIB2_ENST00000360522.4_Missense_Mutation_p.S48F|MIB2_ENST00000505820.2_Missense_Mutation_p.S105F NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 48 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ATGGACCCCTCTGCCCACAGG 0.711000 6 25 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508742 24508742 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:24508742G>A ENST00000376454.3 + 2 288 c.258G>A c.(256-258)atG>atA p.M86I KIAA1217_ENST00000376452.3_Missense_Mutation_p.M86I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M86I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.M6I NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 86 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CATCTGAGATGGATCGGAAGA 0.527000 11 76 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109190068 109190068 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:109190068C>T ENST00000392644.4 + 4 501 c.333C>T c.(331-333)tcC>tcT p.S111S ARMC2_ENST00000368972.3_5'UTR NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 111 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) AGGAGGATTCCTGCTTTTCCT 0.493000 9 55 0 0 1 0 0 HIST1H3J 8356 broad.mit.edu 37 6 27858565 27858565 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:27858565G>A ENST00000359303.2 - 1 5 c.6C>T c.(4-6)gcC>gcT p.A2A HIST1H3J_ENST00000479986.1_5'UTR NM_003535.2 NP_003526.1 P68431 H31_HUMAN histone cluster 1, H3j 2 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 GCTTCGTCCGGGCCATAGTTG 0.557000 5 43 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13770933 13770933 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13770933G>A ENST00000265104.4 - 56 9634 c.9530C>T c.(9529-9531)tCa>tTa p.S3177L DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3177 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) GGAGAGGTATGATTTGGGCGT 0.478000 Kartagener syndrome 10 44 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87912022 87912022 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87912022G>A ENST00000380079.4 - 3 1019 c.918C>T c.(916-918)ctC>ctT p.L306L AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Silent_p.L306L|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 306 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CAAGTGTGTAGAGGACATGAA 0.443000 5 51 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79027695 79027695 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:79027695C>T ENST00000446378.2 + 2 3138 c.3107C>T c.(3106-3108)tCc>tTc p.S1036F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1036 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) TCAGGTTATTCCTGCTTTTCA 0.418000 5 17 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2189823 2189823 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:2189823C>T ENST00000381178.1 - 4 496 c.478G>A c.(478-480)Gag>Aag p.E160K TH_ENST00000352909.3_Missense_Mutation_p.E129K|TH_ENST00000333684.5_Missense_Mutation_p.E133K|TH_ENST00000381175.1_Missense_Mutation_p.E156K NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 160 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACGAAGTACTCCAGGTGGGGG 0.672000 3 21 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55198740 55198740 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55198740C>T ENST00000340465.2 + 3 400 c.314C>T c.(313-315)tCa>tTa p.S105L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 105 integral to membrane receptor activity p.S105L(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATCAATAAATCAGGTAATATT 0.269000 15 65 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4389579 4389579 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:4389579C>T ENST00000355530.2 + 10 1516 c.1236C>T c.(1234-1236)ggC>ggT p.G412G SPNS3_ENST00000333476.2_Silent_p.G285G|RP13-580F15.2_ENST00000576086.1_RNA NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 412 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TCACGGTGGGCCACATCCTGG 0.647000 6 34 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14647077 14647077 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:14647077C>T ENST00000403951.2 - 17 1837 c.1418G>A c.(1417-1419)gGa>gAa p.G473E DGKB_ENST00000406247.3_Missense_Mutation_p.G473E|DGKB_ENST00000258767.5_Missense_Mutation_p.G473E|DGKB_ENST00000407950.1_Missense_Mutation_p.G465E|DGKB_ENST00000402815.1_Missense_Mutation_p.G472E|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.G473E|DGKB_ENST00000444700.2_Missense_Mutation_p.G454E Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 473 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TGGTCCATTTCCAGAAAGACT 0.294000 12 34 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141636 114141636 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:114141636C>T ENST00000276198.1 + 6 1763 c.1035C>T c.(1033-1035)ctC>ctT p.L345L HTR2C_ENST00000371951.1_Silent_p.L345L|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 345 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCAAAAGCTCATGGAAAAGC 0.383000 29 86 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18629968 18629968 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:18629968G>A ENST00000406072.1 + 3 410 c.358G>A c.(358-360)Gaa>Aaa p.E120K HDAC9_ENST00000405010.3_Splice_Site_p.E89_splice|HDAC9_ENST00000441542.2_Missense_Mutation_p.E92K|HDAC9_ENST00000432645.2_Splice_Site_p.E89_splice|HDAC9_ENST00000456174.2_Missense_Mutation_p.E61K|HDAC9_ENST00000406451.3_Splice_Site_p.E89_splice|HDAC9_ENST00000401921.1_Missense_Mutation_p.E92K|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000524023.1_Splice_Site_p.E58_splice|HDAC9_ENST00000417496.2_Splice_Site_p.E131_splice|HDAC9_ENST00000428307.2_Splice_Site_p.E89_splice Q9UKV0 HDAC9_HUMAN histone deacetylase 9 89 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GTTGCAACAGGAACTTCTAGC 0.428000 3 20 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30982479 30982479 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:30982479A>G ENST00000298139.5 + 23 3037 c.2788A>G c.(2788-2790)Atg>Gtg p.M930V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 930 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTGGGAATTATGGGAACTGA 0.318000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 27 92 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155267725 155267725 + Missense_Mutation SNP C C T rs138538638 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:155267725C>T ENST00000460012.1 - 10 1480 c.1123G>A c.(1123-1125)Gag>Aag p.E375K PLCH1_ENST00000414191.1_Missense_Mutation_p.E375K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E375K|PLCH1_ENST00000494598.1_Missense_Mutation_p.E393K|PLCH1_ENST00000340059.7_Missense_Mutation_p.E393K|PLCH1_ENST00000447496.2_Missense_Mutation_p.E393K Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 393 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGTGATTCTCGATAGACAAT 0.448000 9 43 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42174916 42174916 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:42174916G>A ENST00000320955.6 - 10 2140 c.1913C>T c.(1912-1914)aCc>aTc p.T638I NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 638 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCGCTGCAGGGTCTGCTCCAG 0.662000 3 12 0 0 1 0 0 CLDN17 26285 broad.mit.edu 37 21 31538771 31538771 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:31538771G>A ENST00000286808.3 - 1 200 c.165C>T c.(163-165)atC>atT p.I55I NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 55 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 TGGCTTGTCGGATGCAATTCA 0.542000 9 95 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870597 51870597 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51870597G>A ENST00000371497.5 + 2 1487 c.600G>A c.(598-600)caG>caA p.Q200Q TSHZ2_ENST00000603338.2_Silent_p.Q197Q|TSHZ2_ENST00000329613.6_Silent_p.Q197Q NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 200 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGTACCGACAGAGCAGCAAGA 0.582000 7 36 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826118 43826118 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:43826118C>T ENST00000389420.3 - 21 3084 c.3085G>A c.(3085-3087)Gaa>Aaa p.E1029K ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1029K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E183K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1029 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCGCTCCATTCACTAGCAGCC 0.383000 5 43 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151894384 151894384 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:151894384G>A ENST00000367290.5 + 6 939 c.850G>A c.(850-852)Ggc>Agc p.G284S CCDC170_ENST00000239374.7_Missense_Mutation_p.G284S Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 284 GCTGCTTGCTGGCCAGCAGGT 0.473000 15 37 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62675842 62675842 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:62675842G>A ENST00000498273.1 + 4 1691 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 466 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 TGATGGCATGGAAACTACTTT 0.438000 18 71 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114304421 114304421 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:114304421C>T ENST00000408937.3 + 17 2382 c.2008C>T c.(2008-2010)Ctc>Ttc p.L670F FOXP2_ENST00000393498.2_Missense_Mutation_p.L624F|FOXP2_ENST00000403559.4_Missense_Mutation_p.L662F|FOXP2_ENST00000393494.2_Missense_Mutation_p.L645F|FOXP2_ENST00000393489.3_Missense_Mutation_p.L553F|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.L645F|FOXP2_ENST00000393491.3_Missense_Mutation_p.L460F NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 645 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 CCACGAAGACCTCAATGGTTC 0.498000 4 57 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944104 47944104 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:47944104G>A ENST00000289672.2 - 12 1852 c.1802C>T c.(1801-1803)tCa>tTa p.S601L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 601 PKD 2. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TACCAGAGCTGAGGAGGGGGA 0.557000 8 37 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44083235 44083235 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:44083235C>T ENST00000359947.4 + 24 4531 c.4191C>T c.(4189-4191)atC>atT p.I1397I PTPRF_ENST00000438120.1_Silent_p.I1388I|PTPRF_ENST00000372414.3_Silent_p.I1397I|PTPRF_ENST00000372413.3_Silent_p.I1388I|PTPRF_ENST00000422171.2_Silent_p.I756I|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1397 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTACCTCTATCGATGGTGAGC 0.552000 20 125 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18687468 18687468 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:18687468C>T ENST00000406451.3 + 10 1237 c.1087C>T c.(1087-1089)Cct>Tct p.P363S HDAC9_ENST00000405010.3_Missense_Mutation_p.P363S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P366S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P363S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P335S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P322S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P286S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P350S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P361S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P319S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 363 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.P366S(2)|p.P361S(1)|p.P363S(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCAAGGTGTTCCTCTGCCTGG 0.502000 4 19 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970459 123970459 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123970459G>A ENST00000369005.1 + 9 6859 c.6519G>A c.(6517-6519)acG>acA p.T2173T TACC2_ENST00000513429.1_Silent_p.T319T|TACC2_ENST00000358010.1_Silent_p.T319T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000360561.3_Silent_p.T251T|TACC2_ENST00000368999.1_Silent_p.T251T|TACC2_ENST00000453444.2_Silent_p.T2177T|TACC2_ENST00000334433.3_Silent_p.T2173T|TACC2_ENST00000260733.3_Silent_p.T251T|TACC2_ENST00000369004.3_Silent_p.T251T|TACC2_ENST00000515273.1_Silent_p.T2177T|TACC2_ENST00000515603.1_Silent_p.T2128T|TACC2_ENST00000369001.1_5'UTR NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2173 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CATCTGAGACGAAAACGGAAT 0.592000 12 85 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317782 30317782 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:30317782C>T ENST00000375377.1 - 3 1396 c.1295G>A c.(1294-1296)cGa>cAa p.R432Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 432 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTTAAAATGTCGTAACCGTGG 0.522000 22 107 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104048347 104048347 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:104048347G>A ENST00000388887.2 + 13 1626 c.1422G>A c.(1420-1422)aaG>aaA p.K474K NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 474 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATCAAATAAAGCTTAAACTCC 0.408000 6 40 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160969738 160969738 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160969738C>T ENST00000368026.6 - 6 896 c.622G>A c.(622-624)Gga>Aga p.G208R F11R_ENST00000537746.1_Missense_Mutation_p.G159R|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 208 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) CTGTATTCTCCAGTATCAGAG 0.483000 6 57 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204930 34204930 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34204930G>A ENST00000373381.4 - 15 2355 c.2179C>T c.(2179-2181)Cga>Tga p.R727* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 687 Sushi 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCGTTGTGTCGGAAGGCTGTG 0.512000 15 74 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86869513 86869513 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:86869513G>A ENST00000373119.4 + 3 812 c.667G>A c.(667-669)Gtc>Atc p.V223I KLHL4_ENST00000373114.4_Missense_Mutation_p.V223I NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 223 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ACAAGAAGAGGTCAGGATGGA 0.398000 6 25 0 0 1 0 0 IGLV2-11 28816 broad.mit.edu 37 22 23135368 23135368 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:23135368C>T ENST00000390314.2 + 0 272 AAGCGGCCCTCAGGGGTCCCT 0.542000 29 315 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179442498 179442498 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179442498C>T ENST00000589042.1 - 323 68879 c.68655G>A c.(68653-68655)tcG>tcA p.S22885S TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.S13820S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.S13945S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.S21244S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.S14012S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.S20317S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21244 Fibronectin type-III 66. 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) TCCAAGACTTCGAAGGTAGAT 0.393000 5 76 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793504 65793504 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:65793504T>C ENST00000312106.5 - 1 484 c.347A>G c.(346-348)cAt>cGt p.H116R NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 116 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 GAGCTCATCATGGTAGTCCTC 0.597000 7 87 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114243463 114243463 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:114243463C>T ENST00000369604.1 - 16 2482 c.1999G>A c.(1999-2001)Gaa>Aaa p.E667K PHTF1_ENST00000393357.2_Missense_Mutation_p.E667K|PHTF1_ENST00000369598.1_Missense_Mutation_p.E622K|PHTF1_ENST00000369600.1_Missense_Mutation_p.E614K|PHTF1_ENST00000369596.2_Missense_Mutation_p.E614K|PHTF1_ENST00000474926.1_5'UTR Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 667 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTATTGGTTTCAGACCCCAGT 0.388000 13 61 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68478450 68478450 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68478450C>T ENST00000255087.5 - 9 1409 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 409 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TAGTGTCTTTCGTTCTGGGCT 0.388000 5 29 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369271 20369271 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:20369271G>A ENST00000593655.1 - 0 199 TATGGAAAATGGCATAGTACG 0.378000 19 99 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156918259 156918259 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:156918259C>T ENST00000368194.3 - 23 2996 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K ARHGEF11_ENST00000361409.2_Missense_Mutation_p.E613K|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.E29K NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 613 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) TTGAGGCTTTCAGAGCGGCCC 0.572000 8 57 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684891 80684891 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:80684891C>T ENST00000269373.6 + 6 847 c.774C>T c.(772-774)tcC>tcT p.S258S FN3KRP_ENST00000535965.1_Silent_p.S208S NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 258 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TTAGCAGCTCCTTTTACTCCG 0.512000 6 89 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34317262 34317262 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:34317262G>A ENST00000361162.6 - 6 772 c.388C>T c.(388-390)Cca>Tca p.P130S RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.P130S|RBM39_ENST00000528062.3_Missense_Mutation_p.P108S NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 130 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) TTTCTGAATGGACTTTTGCTT 0.353000 14 89 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165175186 165175186 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:165175186G>A ENST00000342310.3 - 8 1285 c.903C>T c.(901-903)gcC>gcT p.A301A LMX1A_ENST00000294816.2_Silent_p.A301A|LMX1A_ENST00000367893.4_Silent_p.A301A|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 301 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TCTGCTCGATGGCCAGGAGCT 0.567000 13 53 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520036 23520036 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:23520036T>C ENST00000374619.1 - 1 1186 c.677A>G c.(676-678)aAc>aGc p.N226S HTR1D_ENST00000314113.3_Missense_Mutation_p.N226S NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 226 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CAGGATGCGGTTCCGGGCAGC 0.592000 9 49 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10729698 10729698 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:10729698C>T ENST00000283025.2 - 6 1235 c.1164G>A c.(1162-1164)ctG>ctA p.L388L TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 388 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GGGCCACCTTCAGCGGGCCCT 0.622000 31 169 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499584 75499584 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:75499584C>T ENST00000360639.2 + 2 1515 c.1195C>T c.(1195-1197)Cct>Tct p.P399S C15orf39_ENST00000567617.1_Missense_Mutation_p.P399S|C15orf39_ENST00000394987.4_Missense_Mutation_p.P399S Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 399 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 AGGGACACCACCTTCCCAGAA 0.617000 12 124 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30913173 30913173 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:30913173G>A ENST00000383096.3 - 10 1026 c.844C>T c.(844-846)Caa>Taa p.Q282* CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q282*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q282* coiled-coil domain containing 178 TTCAGATCTTGAAGTTCCTGA 0.333000 9 38 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830498 61830498 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61830498C>T ENST00000280772.1 - 37 10332 c.10141G>A c.(10141-10143)Gaa>Aaa p.E3381K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3381 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGGCAATTTCATTCTGAGGT 0.458000 11 68 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66192525 66192525 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:66192525C>T ENST00000311034.2 + 7 2340 c.2164C>T c.(2164-2166)Ccc>Tcc p.P722S NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 722 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TACCCCAGATCCCAGTGAGGA 0.587000 16 74 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50807922 50807922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:50807922C>T ENST00000263046.4 + 7 1187 c.1021C>T c.(1021-1023)Ccc>Tcc p.P341S TFAP2B_ENST00000393655.3_Missense_Mutation_p.P332S Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 332 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AACGGAGTTTCCCGCCAAAGC 0.478000 9 182 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139202184 139202184 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:139202184G>A ENST00000423192.1 + 14 1917 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K ECT2L_ENST00000541398.1_Missense_Mutation_p.E517K|ECT2L_ENST00000367682.2_Missense_Mutation_p.E586K Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 586 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 GCAGATACTGGAAATTGTGAG 0.428000 """N, Splice, Mis""" ETP ALL 4 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076269 9076269 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9076269G>A ENST00000397910.4 - 3 11380 c.11177C>T c.(11176-11178)tCc>tTc p.S3726F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3727 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 CAGAAAAGTGGACAGGGGCGT 0.493000 20 95 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108697016 108697016 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:108697016C>T ENST00000218006.2 - 4 1396 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 369 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TGTCCATTTTCTTTCATAGCA 0.383000 4 16 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390600 61390600 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61390600G>A ENST00000544088.1 + 0 1208 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_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) ATACCAACACGATCCTATTCT 0.502000 12 126 0 0 1 0 0 GCC1 79571 broad.mit.edu 37 7 127224953 127224953 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:127224953G>T ENST00000321407.2 - 1 708 c.284C>A c.(283-285)aCt>aAt p.T95N GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 95 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCGGTCCCAGTGCTATCCTC 0.612000 15 53 3.27435e-08 3.30904e-08 1 1 0 COLEC10 10584 broad.mit.edu 37 8 120118308 120118308 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:120118308G>A ENST00000332843.2 + 6 753 c.712G>A c.(712-714)Gaa>Aaa p.E238K NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 238 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) GAATGAGGGGGAACCCAGCGA 0.502000 11 48 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31040237 31040237 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:31040237T>A ENST00000355537.3 + 4 3858 c.3711T>A c.(3709-3711)ggT>ggA p.G1237G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1237 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) ACAGCCAGGGTCTTCTCCAAG 0.667000 3 33 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78013838 78013838 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:78013838C>T ENST00000397545.4 + 3 348 c.321C>T c.(319-321)atC>atT p.I107I CCDC40_ENST00000374877.3_Silent_p.I107I|CCDC40_ENST00000269318.5_Silent_p.I107I|CCDC40_ENST00000374876.4_Silent_p.I107I NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 107 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) AAGGGCAAATCAGTGCTGCAG 0.517000 15 61 0 0 1 0 0 CGB1 114335 broad.mit.edu 37 19 49538906 49538906 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49538906G>A ENST00000301407.7 - 3 533 c.429C>T c.(427-429)ccC>ccT p.P143P CGB1_ENST00000391869.3_Silent_p.P143P|CTB-60B18.6_ENST00000591656.1_Intron NM_033377.1 NP_203695.2 A6NKQ9 CGB1_HUMAN chorionic gonadotropin, beta polypeptide 1 175 extracellular region hormone activity liver(1)|lung(1) 2 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GAAGGCTGGGGGGAGGGGCCT 0.627000 17 89 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214818217 214818217 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:214818217T>G ENST00000366955.3 + 13 5472 c.5304T>G c.(5302-5304)gaT>gaG p.D1768E NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1864 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 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) ATCAGGAAGATATCCATAATC 0.393000 9 43 0 0 1 0 0 C1orf177 163747 broad.mit.edu 37 1 55282743 55282743 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55282743C>T ENST00000358193.3 + 9 1186 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L C1orf177_ENST00000371273.3_Silent_p.L378L NM_152607.2 NP_689820.2 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 378 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 ATCCCTATTCCTGAGTGGATC 0.612000 17 51 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220422626 220422626 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220422626G>A ENST00000404537.1 - 11 3765 c.3709C>T c.(3709-3711)Cca>Tca p.P1237S OBSL1_ENST00000265318.4_Missense_Mutation_p.P1145S|OBSL1_ENST00000265317.5_Missense_Mutation_p.P228S|OBSL1_ENST00000373876.1_Missense_Mutation_p.P1237S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1237S NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1237 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCATGGGCTGGGCCTGCAGCC 0.687000 6 33 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103276021 103276021 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103276021G>A ENST00000424685.2 - 19 2475 c.2316C>T c.(2314-2316)ttC>ttT p.F772F RELN_ENST00000428762.1_Silent_p.F772F|RELN_ENST00000343529.5_Silent_p.F772F P78509 RELN_HUMAN reelin 772 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTCTCAGTGTGAACTGGAGAA 0.358000 9 76 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60773233 60773233 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:60773233G>A ENST00000335712.6 - 2 485 c.258C>T c.(256-258)tcC>tcT p.S86S BCL11A_ENST00000358510.4_Silent_p.S86S|BCL11A_ENST00000356842.4_Silent_p.S86S|BCL11A_ENST00000359629.5_Silent_p.S86S|BCL11A_ENST00000538214.1_Silent_p.S86S|BCL11A_ENST00000537768.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 86 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.S86S(3) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TTGGTGAAGGGGAAGGTGGCT 0.463000 T IGH@ B-CLL 13 66 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17414613 17414613 + Silent SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:17414613A>C ENST00000302539.4 - 39 4799 c.4674T>G c.(4672-4674)ctT>ctG p.L1558L ABCC8_ENST00000389817.3_Silent_p.L1557L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1557 ABC transporter 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TATCGAACTCAAGGATGGCAC 0.622000 14 53 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37051982 37051982 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:37051982C>T ENST00000282516.8 + 41 7555 c.7056C>T c.(7054-7056)ttC>ttT p.F2352F NIPBL_ENST00000448238.2_Silent_p.F2352F NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2352 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATGCTGGATTCATTCATGTAT 0.343000 8 35 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784560 140784560 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140784560C>G ENST00000573521.1 + 1 2041 c.2041C>G c.(2041-2043)Cct>Gct p.P681A PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCAGATCCCTGCAGACCT 0.602000 10 116 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137018414 137018414 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:137018414G>A ENST00000359015.4 - 5 1278 c.918C>T c.(916-918)atC>atT p.I306I NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 306 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCAAGACTTCGATATTATCTA 0.378000 11 60 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100226993 100226993 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100226993G>A ENST00000462107.1 - 11 1560 c.1273C>T c.(1273-1275)Cac>Tac p.H425Y TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Missense_Mutation_p.S339L|TFR2_ENST00000223051.3_Missense_Mutation_p.H425Y Q9UP52 TFR2_HUMAN transferrin receptor 2 425 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACAACGTAGTGATCTGGGGAG 0.607000 14 55 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811151 5811151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:5811151C>T ENST00000381095.3 - 6 2785 c.2158G>A c.(2158-2160)Gat>Aat p.D720N NLGN4X_ENST00000538097.1_Missense_Mutation_p.D720N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D720N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D740N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D720N NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 720 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 TGAGCGATATCATTTGTGGTG 0.522000 14 40 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45235775 45235775 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:45235775C>T ENST00000303077.6 - 1 794 c.475G>A c.(475-477)Gag>Aag p.E159K NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 159 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CCCGTGGCCTCCGCCAGCTCA 0.637000 6 89 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10351338 10351338 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10351338C>T ENST00000255381.2 - 34 4872 c.4762G>A c.(4762-4764)Gat>Aat p.D1588N CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1588 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTTAGCTGATCGAGTTCTTCA 0.413000 18 89 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50155897 50155897 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50155897C>T ENST00000360565.3 + 7 2375 c.2251C>T c.(2251-2253)Cgg>Tgg p.R751W NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 751 Ser-rich. 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) CCAGAAGGATCGGCGCCGCTC 0.706000 3 5 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475202 29475202 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:29475202G>A ENST00000373795.4 - 6 1439 c.1205C>T c.(1204-1206)tCc>tTc p.S402F SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 402 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TCTGGACTGGGAGCGGTCAGT 0.587000 42 195 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399477 46399477 + Silent SNP G G A rs145700287 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:46399477G>A ENST00000292301.4 + 2 944 c.459G>A c.(457-459)acG>acA p.T153T CCR2_ENST00000400888.2_Silent_p.T153T|CCR2_ENST00000445132.2_Silent_p.T153T|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 153 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) AAGCCAGGACGGTCACCTTTG 0.453000 58 224 0 0 1 0 0 TNP1 7141 broad.mit.edu 37 2 217724400 217724400 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:217724400G>A ENST00000236979.2 - 2 187 c.158C>T c.(157-159)tCc>tTc p.S53F AC007563.5_ENST00000447289.1_RNA NM_003284.3 NP_003275.1 P09430 STP1_HUMAN transition protein 1 (during histone to protamine replacement) 53 chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation nucleosome DNA binding large_intestine(1)|lung(1)|stomach(1) 3 Renal(207;0.0822) Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCACAAGTGGGAGCGGTAATT 0.522000 9 138 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37864606 37864606 + Silent SNP C C T rs147785188 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37864606C>T ENST00000406381.2 + 5 678 c.168C>T c.(166-168)atC>atT p.I56I ERBB2_ENST00000578199.1_Silent_p.I56I|ERBB2_ENST00000541774.1_Silent_p.I71I|ERBB2_ENST00000540147.1_Silent_p.I56I|ERBB2_ENST00000269571.5_Silent_p.I86I|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.I56I|ERBB2_ENST00000584450.1_Silent_p.I86I|ERBB2_ENST00000584601.1_Silent_p.I56I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 86 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) ACGTGCTCATCGCTCACAACC 0.612000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 7 85 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2909255 2909255 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:2909255G>A ENST00000254695.8 + 16 1369 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E412K|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E427K|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E408K NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 427 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CCAGGGCCCGGAATTCAGGGA 0.572000 5 69 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31601198 31601198 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31601198C>T ENST00000376033.2 + 17 4596 c.4362C>T c.(4360-4362)ccC>ccT p.P1454P PRRC2A_ENST00000376007.4_Silent_p.P1454P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1454 4 X 57 AA type A repeats.|Poly-Pro. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCTGCCTCCCCCACCTCCCA 0.572000 5 63 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43606783 43606783 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:43606783C>T ENST00000355710.3 + 7 1624 c.1392C>T c.(1390-1392)atC>atT p.I464I RET_ENST00000340058.5_Silent_p.I464I NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 464 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCTCGGGGATCCTGTTTGTGA 0.607000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 24 65 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10258295 10258295 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10258295G>A ENST00000418404.3 - 9 981 c.818C>T c.(817-819)tCc>tTc p.S273F MYH13_ENST00000570743.1_Missense_Mutation_p.S273F|MYH13_ENST00000252172.4_Missense_Mutation_p.S273F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 273 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGTCACTCTGGATTTTTCTAA 0.368000 6 23 0 0 1 0 0 ASAH2 56624 broad.mit.edu 37 10 52005005 52005005 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:52005005C>T ENST00000395526.3 - 2 336 c.337G>A c.(337-339)Gga>Aga p.G113R ASAH2_ENST00000447815.1_Missense_Mutation_p.G113R|ASAH2_ENST00000329428.6_Missense_Mutation_p.G94R NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 113 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity p.G113*(1)|p.G94*(1) large_intestine(1)|lung(9)|urinary_tract(1) 11 GCTACTTGTCCTGTGCAGTCA 0.423000 17 200 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179629474 179629474 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179629474G>A ENST00000589042.1 - 42 9992 c.9768C>T c.(9766-9768)gcC>gcT p.A3256A TTN_ENST00000460472.2_Silent_p.A3210A|TTN_ENST00000359218.5_Silent_p.A3210A|TTN_ENST00000591111.1_Silent_p.A3256A|TTN_ENST00000360870.5_Silent_p.A3256A|TTN_ENST00000342175.6_Silent_p.A3210A|TTN_ENST00000342992.6_Silent_p.A3256A|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2986 Ig-like 19. 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) CACAGAAGCGGGCAGGCTTGC 0.512000 4 88 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880946 70880946 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:70880946C>T ENST00000333538.5 + 4 1295 c.661C>T c.(661-663)Cag>Tag p.Q221* WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 221 Catalytic subdomain A. 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) GGTAAGAAATCAGAAGAGGGA 0.557000 7 31 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156665120 156665120 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156665120G>A ENST00000422843.3 + 9 922 c.768_splice c.e9-1 p.G257_splice NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 257 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.G257D(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCATTCCAGGGCAAAGAAGGA 0.473000 T SYK peripheral T-cell lymphoma 4 41 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76407209 76407209 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:76407209T>C ENST00000370014.3 + 18 2883 c.2264T>C c.(2263-2265)tTt>tCt p.F755S SENP6_ENST00000447266.2_Missense_Mutation_p.F755S|SENP6_ENST00000370010.2_Missense_Mutation_p.F748S|SENP6_ENST00000541192.1_Missense_Mutation_p.F351S NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 755 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) GAGAAGGATTTTATTTTTGTA 0.323000 6 36 0 0 1 0 0 ALKBH8 91801 broad.mit.edu 37 11 107422621 107422621 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:107422621C>T ENST00000428149.2 - 6 764 c.613G>A c.(613-615)Gaa>Aaa p.E205K ALKBH8_ENST00000417449.2_Missense_Mutation_p.E208K|ALKBH8_ENST00000429370.1_Missense_Mutation_p.E205K|ALKBH8_ENST00000389568.3_Missense_Mutation_p.E205K NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 205 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AAAAAGCTTTCACAAATGTCA 0.313000 4 25 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86123597 86123597 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:86123597C>T ENST00000394518.2 + 7 2393 c.2298C>T c.(2296-2298)gtC>gtT p.V766V AKAP13_ENST00000361243.2_Silent_p.V766V NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 766 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ATCCAGTTGTCCCTAAAATGG 0.423000 15 71 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427866 134427866 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:134427866G>A ENST00000370766.3 - 3 2910 c.201C>T c.(199-201)atC>atT p.I67I ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Silent_p.I67I NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 67 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GAAGTTGGCTGATAGTCTCAA 0.478000 14 48 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30128328 30128328 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30128328C>T ENST00000449742.2 - 1 383 c.308G>A c.(307-309)gGa>gAa p.G103E TRIM10_ENST00000376704.3_Missense_Mutation_p.G103E NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 103 cytoplasm zinc ion binding ovary(1) 1 GATCTTCTCTCCGTGCTCTTG 0.592000 7 110 0 0 1 0 0 GALR1 2587 broad.mit.edu 37 18 74968140 74968140 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:74968140G>A ENST00000299727.3 + 2 693 c.693G>A c.(691-693)ttG>ttA p.L231L GALR1_ENST00000582943.1_3'UTR NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 231 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ATAAAAAGTTGAAGAACATGT 0.333000 6 60 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021116 5021116 + Missense_Mutation SNP C C T rs139272622 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5021116C>T ENST00000321543.1 + 1 904 c.904C>T c.(904-906)Cgt>Tgt p.R302C NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R302C(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGCAGATTCGTCTAGGAAT 0.433000 10 54 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100345955 100345955 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100345955C>T ENST00000542585.1 + 0 1259 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGAGGGTTTTCCTCAGTGTGA 0.562000 15 49 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129172423 129172423 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:129172423C>T ENST00000280333.6 + 35 3666 c.3557C>T c.(3556-3558)aCc>aTc p.T1186I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1186 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GATTATAGAACCATCATGCAC 0.438000 4 14 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203779 84203779 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84203779C>T ENST00000378553.5 + 8 1469 c.1345C>T c.(1345-1347)Ccc>Tcc p.P449S DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 449 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GGCCCCACCACCCCCGCCACC 0.612000 11 57 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37163008 37163008 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:37163008G>A ENST00000421307.1 - 7 727 c.305C>T c.(304-306)tCc>tTc p.S102F LRRFIP2_ENST00000336686.4_Missense_Mutation_p.S102F|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.S85F|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 102 DVL3-binding. Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 ACTTCGAATGGACAATGCATC 0.358000 6 48 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36689599 36689599 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36689599G>A ENST00000264659.7 - 19 3709 c.3485C>T c.(3484-3486)tCg>tTg p.S1162L SRCIN1_ENST00000578925.1_Missense_Mutation_p.S1196L NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 1034 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCTGGAAGCCGAGGGCTTTTC 0.557000 3 25 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231255 7231255 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:7231255C>T ENST00000383467.2 + 1 133 c.119C>T c.(118-120)cCg>cTg p.P40L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 40 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GGAAGGGACCCGCGGTCCCTG 0.617000 19 83 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10603396 10603396 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:10603396C>T ENST00000334534.5 + 8 776 c.596C>T c.(595-597)gCa>gTa p.A199V NM_001009608.1 NP_001009608.1 SLX4 interacting protein TCAGTGATTGCAGAGATAGCA 0.473000 15 46 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057147 72057147 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:72057147G>A ENST00000378743.3 - 1 602 c.244C>T c.(244-246)Cag>Tag p.Q82* ZFC3H1_ENST00000552037.1_Nonsense_Mutation_p.Q82*|THAP2_ENST00000308086.2_De_novo_Start_OutOfFrame|ZFC3H1_ENST00000548100.1_Nonsense_Mutation_p.Q82* NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 82 Ser-rich. 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 TTCCTCAGCTGCTGCTGAGAA 0.662000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 120 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120466292 120466292 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120466292G>A ENST00000256646.2 - 26 5046 c.4827C>T c.(4825-4827)tcC>tcT p.S1609S NOTCH2_ENST00000493703.1_5'UTR NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1609 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACCAGGAAGGGATCTGCGTG 0.483000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 23 82 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50031254 50031254 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:50031254C>T ENST00000261897.1 + 16 2029 c.1476_splice c.e16-1 p.T493_splice PRPF40B_ENST00000380281.1_Splice_Site_p.T499_splice|PRPF40B_ENST00000548825.2_Splice_Site_p.T521_splice Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 499 FF 2. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCTGCTCAGACCTTCCTGGAC 0.572000 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 30 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66713282 66713282 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:66713282G>A ENST00000423207.2 + 2 861 c.376G>A c.(376-378)Gac>Aac p.D126N PDE4B_ENST00000371049.3_Missense_Mutation_p.D141N|PDE4B_ENST00000329654.4_Missense_Mutation_p.D141N NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 141 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.D126Y(1)|p.D141Y(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ATCAGACAGCGACTATGACTT 0.522000 21 107 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653460 19653460 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:19653460G>A ENST00000284885.3 - 22 2598 c.2565C>T c.(2563-2565)gtC>gtT p.V855V NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 855 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTAATCGAGGGACTGTTTGAG 0.383000 19 122 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928106 31928106 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31928106T>C ENST00000375394.2 + 4 459 c.346T>C c.(346-348)Tac>Cac p.Y116H SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 116 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GATACTGGGTTACAAAGAGGT 0.567000 53 161 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151869543 151869543 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:151869543G>A ENST00000367290.5 + 5 782 c.693G>A c.(691-693)acG>acA p.T231T CCDC170_ENST00000239374.7_Silent_p.T231T Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 231 GCAGAGAAACGATCATGAGGC 0.408000 3 32 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768540 57768540 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57768540G>A ENST00000371030.2 + 1 2466 c.2466G>A c.(2464-2466)agG>agA p.R822R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 822 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) CCTCAGAGAGGAAGAAGCTGA 0.637000 12 43 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14303159 14303159 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:14303159G>A ENST00000545643.1 - 5 847 c.534C>T c.(532-534)gtC>gtT p.V178V RRAS2_ENST00000534746.1_Silent_p.V95V|RRAS2_ENST00000537760.1_Silent_p.V137V|RRAS2_ENST00000532814.1_Silent_p.V95V|RRAS2_ENST00000526063.1_Silent_p.V95V|RRAS2_ENST00000529237.1_Silent_p.V95V|RRAS2_ENST00000414023.2_Silent_p.V95V|RRAS2_ENST00000256196.4_Silent_p.V172V NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 172 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) TGATAACCCGGACAAGTTCAT 0.353000 11 59 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976844 46976844 + Nonsense_Mutation SNP C C T rs138457936 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:46976844C>T ENST00000371956.4 + 3 601 c.586C>T c.(586-588)Cag>Tag p.Q196* DMBX1_ENST00000360032.3_Nonsense_Mutation_p.Q191* NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 196 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CCCCGAGGATCAGCCGGACCG 0.672000 7 45 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84256591 84256591 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84256591G>A ENST00000308251.4 - 3 860 c.792C>T c.(790-792)atC>atT p.I264I NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 264 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 TGGTCTCCACGATGAAAATAT 0.567000 8 23 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110838746 110838746 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:110838746G>A ENST00000375820.4 - 26 2004 c.1883C>T c.(1882-1884)tCc>tTc p.S628F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 628 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGCCTGGGGATCCAGGGCC 0.622000 12 165 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296284 20296284 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20296284G>A ENST00000315947.1 + 1 677 c.677G>A c.(676-678)cGa>cAa p.R226Q OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTCGCATACGAGGGTCTTCT 0.478000 9 194 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67268166 67268166 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:67268166G>A ENST00000258201.4 - 13 1687 c.1440C>T c.(1438-1440)gcC>gcT p.A480A FHOD1_ENST00000567687.1_Silent_p.A59A NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 480 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGAGTTGCCGGGCATCTAAAG 0.642000 3 54 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577042 33577042 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:33577042C>T ENST00000504830.1 - 19 3424 c.3089G>A c.(3088-3090)aGa>aAa p.R1030K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R945K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1030 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGTCAGCATTCTGGGCCTGGA 0.532000 HNSCC(64;0.19) 8 100 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94996712 94996712 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:94996712C>T ENST00000265627.5 - 5 466 c.456G>A c.(454-456)ctG>ctA p.L152L PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.L152L NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TCAGGTATACCAGAGAACGTT 0.358000 10 76 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584130 7584130 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7584130G>A ENST00000379802.3 + 24 6976 c.6635G>A c.(6634-6636)gGa>gAa p.G2212E DSP_ENST00000418664.2_Missense_Mutation_p.G1613E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2212 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCTTCCAAGGAATCAGACAA 0.463000 6 68 0 0 1 0 0 TNFRSF17 608 broad.mit.edu 37 16 12059233 12059233 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:12059233T>C ENST00000053243.1 + 1 270 c.52T>C c.(52-54)Ttg>Ctg p.L18L RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Silent_p.L18L NM_001192.2 NP_001183.2 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, member 17 18 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 TGACAGTTTGTTGCATGCTTG 0.403000 T IL2 intestinal T-cell lymphoma 35 119 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45867868 45867868 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:45867868G>A ENST00000311275.7 - 15 2492 c.2239C>T c.(2239-2241)Cca>Tca p.P747S ZMYND8_ENST00000360911.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P742S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P774S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P747S|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P767S|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P684S|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P767S|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P695S Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 747 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GTGGATGGTGGAGTTTTACCT 0.562000 15 128 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94152932 94152932 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94152932G>A ENST00000553484.1 + 45 7171 c.7017G>A c.(7015-7017)gcG>gcA p.A2339A UNC79_ENST00000393151.2_Silent_p.A2317A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000555664.1_Silent_p.A2278A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2317 integral to membrane p.A2339A(1)|p.A2140A(1) 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 GGACTGCAGCGATGGAGTGTG 0.507000 5 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659747 179659747 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179659747G>A ENST00000589042.1 - 7 1371 c.1147C>T c.(1147-1149)Cag>Tag p.Q383* TTN_ENST00000460472.2_Nonsense_Mutation_p.Q383*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q383*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q383*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q383*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q383*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q383* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 383 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) ACTTGCTCCTGGACACCGTAT 0.572000 6 58 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36091719 36091719 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36091719C>T ENST00000225893.4 - 4 1273 c.912G>A c.(910-912)agG>agA p.R304R HNF1B_ENST00000561193.1_Silent_p.R278R|HNF1B_ENST00000427275.2_Silent_p.R278R|HNF1B_ENST00000560016.1_Silent_p.R304R NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 304 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) CCTCCTCCTTCCTGCGGTTTG 0.607000 8 95 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180661489 180661489 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:180661489G>A ENST00000315073.5 + 6 2317 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 536 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCCGCCGCCGGCTCCACCTG 0.667000 7 34 0 0 1 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17911453 17911453 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:17911453C>T ENST00000458468.1 + 0 579 MIR99A_ENST00000384906.1_RNA NR_027790.1 GTGAAGTGGACCGCACAAGCT 0.423000 6 22 0 0 1 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378913 142378913 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142378913G>A ENST00000390398.3 + 0 218 TCCAGGAATGGAACTACACCT 0.428000 38 95 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37543402 37543402 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:37543402A>C ENST00000379066.1 - 2 1028 c.266T>G c.(265-267)gTg>gGg p.V89G PRKD3_ENST00000234179.2_Missense_Mutation_p.V89G O94806 KPCD3_HUMAN protein kinase D3 89 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) TATGGAGCACACAAGATCCTT 0.378000 17 135 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879431 196879431 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196879431C>T ENST00000367416.2 + 6 954 c.817C>T c.(817-819)Cca>Tca p.P273S CFHR4_ENST00000367418.1_Missense_Mutation_p.P27S|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TTGTGAGTTTCCAGAAATTCA 0.313000 7 21 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84765138 84765138 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:84765138C>T ENST00000257776.4 + 2 236 c.101C>T c.(100-102)tCc>tTc p.S34F NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 34 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GGACCAGTTTCCTTTGAAGGA 0.373000 5 52 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80391650 80391650 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:80391650C>T ENST00000337014.6 + 5 873 c.399C>T c.(397-399)gtC>gtT p.V133V HEXDC_ENST00000327949.9_Silent_p.V133V|HEXDC_ENST00000577944.1_Silent_p.V133V NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 133 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TTGACCAGGTCCTGGAGCTAC 0.662000 4 46 0 0 1 0 0 SLC35C1 55343 broad.mit.edu 37 11 45827369 45827369 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:45827369T>C ENST00000314134.3 + 1 1413 c.17T>C c.(16-18)cTg>cCg p.L6P SLC35C1_ENST00000442528.2_5'UTR|SLC35C1_ENST00000456334.1_5'UTR NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 6 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) AGGGCCCCTCTGAAGCGGTCC 0.637000 12 51 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137322957 137322957 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:137322957G>A ENST00000367748.1 - 6 1653 c.1067C>T c.(1066-1068)tCg>tTg p.S356L IL20RA_ENST00000541547.1_Missense_Mutation_p.S418L|IL20RA_ENST00000316649.5_Missense_Mutation_p.S467L Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 467 Poly-Glu. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CCCCTCCTCCGAGTCTGTGTG 0.607000 15 83 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8618320 8618320 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8618320C>T ENST00000338257.8 - 5 595 c.326_splice c.e5-1 p.G110_splice NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 110 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCACTCTCTCCACTGGGGATG 0.517000 13 64 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8486289 8486289 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:8486289C>T ENST00000447869.1 - 3 1338 c.420G>A c.(418-420)acG>acA p.T140T STK33_ENST00000534493.1_Silent_p.T99T|STK33_ENST00000396672.1_Silent_p.T140T|STK33_ENST00000396673.1_Silent_p.T140T|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000315204.1_Silent_p.T140T Q9BYT3 STK33_HUMAN serine/threonine kinase 33 140 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTGCCCACTTCGTTTCTGTTT 0.413000 6 69 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40726603 40726603 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:40726603G>A ENST00000372759.3 + 2 381 c.216G>A c.(214-216)ctG>ctA p.L72L ZMPSTE24_ENST00000479131.1_3'UTR NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 72 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTATCAACTGGATAAAAGCA 0.393000 30 97 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858457 105858457 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:105858457G>A ENST00000258456.1 + 1 258 c.142G>A c.(142-144)Ggg>Agg p.G48R NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 48 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GACCGTGGTGGGGTTCCTGGG 0.622000 9 107 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72608825 72608825 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72608825C>T ENST00000392619.1 - 4 701 c.666G>A c.(664-666)gtG>gtA p.V222V CD300E_ENST00000426295.2_Silent_p.V236V|CD300E_ENST00000328630.3_Silent_p.V195V NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 195 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGGCCTGTTCACCCAGAAGA 0.632000 7 92 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513407 78513407 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:78513407C>T ENST00000397909.2 + 15 3604 c.3431C>T c.(3430-3432)tCc>tTc p.S1144F NAV3_ENST00000228327.6_Missense_Mutation_p.S1144F|NAV3_ENST00000536525.2_Missense_Mutation_p.S1144F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1144F Q8IVL0 NAV3_HUMAN neuron navigator 3 1144 Ser-rich. 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 CCTTCAAAATCCAGCACCAGT 0.522000 HNSCC(70;0.22) 7 54 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45763501 45763501 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:45763501C>T ENST00000389061.5 + 9 893 c.689C>T c.(688-690)tCg>tTg p.S230L SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 230 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GGAATTGATTCGGAAGGCCAT 0.353000 4 22 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027310 55027310 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:55027310G>A ENST00000324000.3 + 4 2979 c.945G>A c.(943-945)gaG>gaA p.E315E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 315 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TATGTGAAGAGATCCACTTGT 0.403000 6 31 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965891 88965891 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:88965891C>T ENST00000333190.4 + 4 4204 c.3595C>T c.(3595-3597)Cca>Tca p.P1199S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1199 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACAGACAGTTCCAGTTCACCA 0.507000 HNSCC(36;0.09) 10 97 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48325462 48325462 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:48325462G>A ENST00000376876.3 - 4 975 c.132C>T c.(130-132)ttC>ttT p.F44F SLC38A5_ENST00000317669.5_Silent_p.F44F|SLC38A5_ENST00000376875.1_5'UTR Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 44 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 TCTTCCCCTCGAACTGCACGC 0.592000 OREG0019763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374188 95374188 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:95374188C>T ENST00000494840.1 - 0 1673 NR_077228.1 ACGGTGGCATCATCTCTGGGA 0.428000 5 38 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72028045 72028045 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:72028045C>T ENST00000378743.3 - 12 2758 c.2400G>A c.(2398-2400)aaG>aaA p.K800K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 800 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 ATGAACTTGTCTTCAGCTGAT 0.353000 3 40 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51873000 51873000 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51873000G>A ENST00000371497.5 + 2 3890 c.3003G>A c.(3001-3003)cgG>cgA p.R1001R TSHZ2_ENST00000603338.2_Silent_p.R998R|TSHZ2_ENST00000329613.6_Silent_p.R998R|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1001 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGTGCTGTCGGACATTTGTGA 0.473000 9 64 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010772 78010772 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:78010772C>T ENST00000435339.2 + 2 811 c.406C>T c.(406-408)Cgt>Tgt p.R136C LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 136 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TAGTGTGGATCGTTTCCTGGC 0.483000 24 76 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435524 18435524 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:18435524G>A ENST00000433979.1 + 2 625 c.509G>A c.(508-510)gGa>gAa p.G170E PIK3C2G_ENST00000535651.1_Missense_Mutation_p.G170E|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G170E|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G170E|RERGL_ENST00000541632.1_Intron NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 170 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TACCATATAGGATTTGAAAGT 0.338000 13 56 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118487697 118487697 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:118487697C>T ENST00000311085.8 + 19 4748 c.4668C>T c.(4666-4668)tcC>tcT p.S1556S DMXL1_ENST00000539542.1_Silent_p.S1556S NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1556 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) TTACAACTTCCCTTCCAGCCT 0.408000 10 82 0 0 1 0 0 PEF1 553115 broad.mit.edu 37 1 32096264 32096264 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:32096264G>A ENST00000373703.4 - 5 827 c.805C>T c.(805-807)Cgg>Tgg p.R269W HCRTR1_ENST00000373705.1_Intron NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 269 EF-hand 5.|Required for interaction with PDCD6. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) AAGCTGAGCCGAATGTTGCCT 0.572000 11 35 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156641209 156641209 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156641209G>A ENST00000422843.3 + 4 485 c.333G>A c.(331-333)agG>agA p.R111R CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 111 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGAAACGAGGAATAATAACA 0.453000 T SYK peripheral T-cell lymphoma 5 72 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60484460 60484460 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:60484460G>A ENST00000450662.2 + 10 981 c.910G>A c.(910-912)Gtg>Atg p.V304M EFCAB3_ENST00000305286.3_Missense_Mutation_p.V252M NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 252 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TGTGGATGGGGTGGTGATGGG 0.358000 8 50 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36263196 36263196 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36263196G>A ENST00000394571.2 + 5 770 c.770G>A c.(769-771)cGg>cAg p.R257Q PNPLA1_ENST00000388715.3_Missense_Mutation_p.R162Q|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R171Q NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 257 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TACTTGAGGCGGCTGAGTAAG 0.562000 8 60 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50053605 50053605 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:50053605G>A ENST00000376042.1 + 6 2734 c.2436G>A c.(2434-2436)aaG>aaA p.K812K CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K812K|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 812 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GCATTGAGAAGGAAGCTGTCC 0.557000 5 19 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117352780 117352780 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:117352780G>A ENST00000321322.6 - 12 2638 c.2637C>T c.(2635-2637)atC>atT p.I879I DSCAML1_ENST00000527706.1_Silent_p.I609I NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 819 Ig-like C2-type 9. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCCAGCGGATGATGATGGGCC 0.622000 8 42 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046906 175046906 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175046906G>A ENST00000239462.4 + 2 465 c.352G>A c.(352-354)Gag>Aag p.E118K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 118 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) GCTGGAGGAAGAGATGGTGGA 0.557000 8 44 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10477120 10477120 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:10477120C>T ENST00000538557.1 + 9 1126 c.882C>T c.(880-882)ccC>ccT p.P294P PGD_ENST00000270776.8_Silent_p.P307P|PGD_ENST00000541529.1_Silent_p.P285P|PGD_ENST00000498356.1_3'UTR P52209 6PGD_HUMAN phosphogluconate dehydrogenase 307 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) TGAAGGGTCCCCAGAAGTTCC 0.502000 17 87 0 0 1 0 0 RNASE6 6039 broad.mit.edu 37 14 21250264 21250264 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:21250264G>A ENST00000304677.2 + 2 699 c.406G>A c.(406-408)Gat>Aat p.D136N NM_005615.4 NP_005606.1 Q93091 RNAS6_HUMAN ribonuclease, RNase A family, k6 136 defense response|RNA catabolic process extracellular region nucleic acid binding|pancreatic ribonuclease activity large_intestine(1) 1 all_cancers(95;0.00406) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) TCAGAAGAGCGATCCCCCCTA 0.468000 22 121 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89939544 89939544 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:89939544C>T ENST00000389297.4 + 23 3069 c.2818C>T c.(2818-2820)Cct>Tct p.P940S C7orf63_ENST00000316089.8_Missense_Mutation_p.P894S|C7orf63_ENST00000497910.1_Missense_Mutation_p.P922S NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 940 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AAAGAGTATTCCTACGTAATA 0.323000 13 29 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21415020 21415020 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:21415020C>T ENST00000529198.1 - 2 285 c.235G>A c.(235-237)Gcc>Acc p.A79T C10orf113_ENST00000534331.1_Missense_Mutation_p.G67D|C10orf113_ENST00000377118.4_Missense_Mutation_p.G57D|NEBL_ENST00000417816.2_Intron NM_001177483.1 NP_001170954.1 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 0 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 AGGCCTCAGGCCCTTCTCGGC 0.562000 9 52 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180763 142180763 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142180763C>T ENST00000390368.2 - 0 161 GTCCTGTCTTCAGGACCTGGA 0.542000 15 258 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619363 52619363 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:52619363G>A ENST00000600228.1 - 4 1315 c.1054C>T c.(1054-1056)Cca>Tca p.P352S ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CATTTATATGGTTTCTTTCCT 0.403000 23 128 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155172641 155172641 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:155172641G>A ENST00000368378.3 - 8 939 c.919C>T c.(919-921)Ctg>Ttg p.L307L THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.L187L|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Silent_p.L157L|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 307 EGF-like 1. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) 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) TTGCCCTGCAGGCCAGGGGGG 0.627000 5 64 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219362824 219362824 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219362824G>A ENST00000258399.3 - 12 1494 c.1082C>T c.(1081-1083)tCa>tTa p.S361L USP37_ENST00000454775.1_Missense_Mutation_p.S361L|USP37_ENST00000415516.1_Missense_Mutation_p.S289L|USP37_ENST00000418019.1_Missense_Mutation_p.S361L NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 361 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TGACTGGAGTGAAAATAGAGA 0.348000 16 41 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53845206 53845206 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:53845206G>A ENST00000288139.3 + 49 6437 c.6319G>A c.(6319-6321)Gaa>Aaa p.E2107K CACNA1D_ENST00000350061.5_Missense_Mutation_p.E2087K|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2063K NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 2087 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AACAAAACACGAAATCGCTGA 0.552000 12 64 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8331686 8331686 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:8331686C>T ENST00000381196.4 - 41 5973 c.5430G>A c.(5428-5430)gaG>gaA p.E1810E PTPRD_ENST00000540109.1_Silent_p.E1810E|PTPRD_ENST00000360074.4_Silent_p.E1797E|PTPRD_ENST00000358503.5_Silent_p.E1788E|PTPRD_ENST00000355233.5_Silent_p.E1404E|PTPRD_ENST00000397617.3_Silent_p.E1403E|PTPRD_ENST00000537002.1_Silent_p.E1400E|PTPRD_ENST00000486161.1_Silent_p.E1403E|PTPRD_ENST00000356435.5_Silent_p.E1810E|PTPRD_ENST00000397606.3_Silent_p.E1403E|PTPRD_ENST00000397611.3_Silent_p.E1400E NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1810 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCACTCCTTGCTCTGGCCAGT 0.507000 TSP Lung(15;0.13) 4 58 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800935 185800935 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:185800935C>T ENST00000302277.6 + 4 1406 c.812C>T c.(811-813)tCt>tTt p.S271F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 271 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 CTTTTGAGTTCTGAGGAGAAA 0.393000 8 60 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65714115 65714115 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:65714115G>A ENST00000253247.4 + 1 167 c.52G>A c.(52-54)Ggg>Agg p.G18R NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 18 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) CCTGAGCGCCGGGCCTGAAGG 0.572000 OREG0024682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 51 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50053071 50053071 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:50053071C>T ENST00000376042.1 + 6 2200 c.1902C>T c.(1900-1902)ttC>ttT p.F634F CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.F634F|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 634 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AAGAAAAGTTCCTCTCCCAGG 0.453000 6 14 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431264 135431264 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135431264C>T ENST00000394143.1 + 6 5690 c.5399C>T c.(5398-5400)tCc>tTc p.S1800F GPR112_ENST00000287534.4_Missense_Mutation_p.S1737F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1595F|GPR112_ENST00000412101.1_Missense_Mutation_p.S1595F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1800F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1800 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAGATGACTTCCTTGTTAGAA 0.408000 22 70 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553751 106553751 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:106553751G>A ENST00000369096.4 + 5 1950 c.1716G>A c.(1714-1716)aaG>aaA p.K572K PRDM1_ENST00000369091.2_Silent_p.K536K|PRDM1_ENST00000369089.3_Silent_p.K438K NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 572 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AGAACGGCAAGATCAAGTACG 0.522000 """D, N, Mis, F, S""" DLBCL 10 48 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43257723 43257723 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43257723G>A ENST00000372874.4 - 3 317 c.183C>T c.(181-183)ttC>ttT p.F61F ADA_ENST00000537820.1_Silent_p.F61F NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 61 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) ACTTGGCCAGGAAGTCTGGAA 0.567000 Adenosine Deaminase Deficiency 15 104 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247294 164247294 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:164247294C>T ENST00000296533.2 - 2 944 c.413G>A c.(412-414)cGa>cAa p.R138Q NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 138 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CAGCTGATGTCGTTCCACAGC 0.443000 16 61 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 119998143 119998143 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:119998143C>T ENST00000341846.5 - 3 1456 c.1035G>A c.(1033-1035)gtG>gtA p.V345V TRIM29_ENST00000541857.1_Silent_p.V78V|TRIM29_ENST00000529044.1_Silent_p.V84V NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 345 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CATCCATGATCACCTTCACTT 0.582000 7 145 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36047316 36047316 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36047316G>A ENST00000560016.1 - 8 1747 c.1614C>T c.(1612-1614)caC>caT p.H538H HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR|HNF1B_ENST00000427275.2_Silent_p.H447H P35680 HNF1B_HUMAN HNF1 homeobox B 338 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGCCCAGAGGGTGATGGTGTG 0.577000 4 29 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76797105 76797105 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:76797105T>A ENST00000285871.4 + 2 247 c.120T>A c.(118-120)gaT>gaA p.D40E RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 40 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GGTTTGTTGATTTATCTGAAA 0.338000 7 51 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461493 11461493 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:11461493C>T ENST00000279575.1 - 3 457 c.424G>A c.(424-426)Gaa>Aaa p.E142K PRB4_ENST00000445719.2_Intron|PRB4_ENST00000535904.1_Missense_Mutation_p.E142K NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 205 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. Missing (in allele M and allele S). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGTGGTCTTTCTGGCTTTCCT 0.607000 HNSCC(22;0.051) 65 316 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174055896 174055896 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:174055896C>T ENST00000338983.3 + 7 768 c.573C>T c.(571-573)tcC>tcT p.S191S MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000539448.1_Silent_p.S191S|MLTK_ENST00000431503.2_Silent_p.S90S|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Silent_p.S191S|MLTK_ENST00000375213.3_Silent_p.S191S NM_133646.2 NP_598407.1 ACACATATTCCTATGGTGTGG 0.378000 4 57 0 0 1 0 0 CEBPA 1050 broad.mit.edu 37 19 33792420 33792420 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:33792420C>T ENST00000498907.2 - 1 1050 c.901G>A c.(901-903)Gac>Aac p.D301N CTD-2540B15.7_ENST00000587312.1_RNA NM_004364.3 NP_004355.2 P49715 CEBPA_HUMAN CCAAT/enhancer binding protein (C/EBP), alpha 301 cytokine-mediated signaling pathway|generation of precursor metabolites and energy|interspecies interaction between organisms|positive regulation of transcription from RNA polymerase III promoter sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.D301>DKAKQRNVETQHH(1)|p.R300_D301>QN(1)|p.H200_K352>Q(1)|p.?(1) cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1) 920 Esophageal squamous(110;0.137) TTGGCCTTGTCGCGGCTCTTG 0.657000 """Mis, N, F""" """AML, MDS""" Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation 11 42 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540817 55540817 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55540817G>A ENST00000220676.1 + 4 4523 c.4375G>A c.(4375-4377)Gaa>Aaa p.E1459K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1459 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACATCAAGTGAAAGAAACAT 0.373000 5 44 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102651289 102651289 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102651289G>A ENST00000279441.4 - 1 70 c.34C>T c.(34-36)Ctg>Ttg p.L12L NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 12 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CAGACTGGCAGACACAACAGC 0.493000 5 19 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168810858 168810858 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:168810858C>T ENST00000464456.1 - 12 3661 c.2461G>A c.(2461-2463)Gaa>Aaa p.E821K MECOM_ENST00000494292.1_Missense_Mutation_p.E1009K|MECOM_ENST00000460814.1_Missense_Mutation_p.E821K|MECOM_ENST00000392736.3_Missense_Mutation_p.E830K|MECOM_ENST00000264674.3_Missense_Mutation_p.E895K|MECOM_ENST00000472280.1_Missense_Mutation_p.E831K|MECOM_ENST00000468789.1_Missense_Mutation_p.E830K|MECOM_ENST00000433243.2_Missense_Mutation_p.E831K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCTGTACTTTCCAGTTCAGAA 0.418000 21 68 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82353490 82353490 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:82353490C>T ENST00000509081.1 - 13 1578 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K RASGEF1B_ENST00000264400.2_Missense_Mutation_p.E454K|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.E412K Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 454 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 ATATGATTTTCAGGTCCTTCA 0.383000 8 27 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77752666 77752666 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:77752666C>T ENST00000344720.5 + 2 1049 c.23C>T c.(22-24)cCa>cTa p.P8L AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.P34L NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 34 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 CCCGAAGATCCAGTAGAATAC 0.348000 15 52 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52901819 52901819 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:52901819C>T ENST00000354452.3 - 16 2057 c.1446G>A c.(1444-1446)gcG>gcA p.A482A TCF4_ENST00000356073.4_Silent_p.A482A|TCF4_ENST00000564999.1_Silent_p.A482A|TCF4_ENST00000570177.2_Silent_p.A352A|TCF4_ENST00000564403.2_Silent_p.A488A|TCF4_ENST00000567880.1_Silent_p.A422A|TCF4_ENST00000561831.3_Silent_p.A322A|TCF4_ENST00000537578.1_Silent_p.A458A|TCF4_ENST00000544241.2_Silent_p.A411A|TCF4_ENST00000561992.1_Silent_p.A352A|TCF4_ENST00000543082.1_Silent_p.A440A|TCF4_ENST00000568740.1_Silent_p.A457A|TCF4_ENST00000566286.1_Silent_p.A479A|TCF4_ENST00000568673.1_Silent_p.A458A|TCF4_ENST00000565018.2_Silent_p.A482A|TCF4_ENST00000540999.1_Silent_p.A458A|TCF4_ENST00000457482.3_Silent_p.A322A|TCF4_ENST00000564228.1_Silent_p.A411A|TCF4_ENST00000537856.3_Silent_p.A352A|TCF4_ENST00000398339.1_Silent_p.A584A|TCF4_ENST00000566279.1_Silent_p.A422A|TCF4_ENST00000570287.2_Silent_p.A322A NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 482 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CAGGGGAAGTCGCAGACTGGA 0.567000 OREG0024990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 91 0 0 1 0 0 ASZ1 136991 broad.mit.edu 37 7 117067420 117067420 + Missense_Mutation SNP C C T rs145791114 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:117067420C>T ENST00000284629.2 - 1 157 c.95G>A c.(94-96)cGg>cAg p.R32Q NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 32 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTGAGACGTCCGGTCGAGATA 0.657000 32 104 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458968 179458968 + Splice_Site SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179458968T>C ENST00000589042.1 - 297 58376 c.58150_splice c.e297-1 p.A19384_splice TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.A10319_splice|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.A10444_splice|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.A17743_splice|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.A10511_splice|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.A16816_splice|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17743 Fibronectin type-III 40. 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) GCGTTGGGGGTGCTAAAATTT 0.393000 3 40 0 0 1 0 0 RAB39A 54734 broad.mit.edu 37 11 107832711 107832711 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:107832711A>G ENST00000320578.2 + 2 333 c.267A>G c.(265-267)ggA>ggG p.G89G NM_017516.1 NP_059986.1 Q14964 RB39A_HUMAN RAB39A, member RAS oncogene family 89 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding CAGTTGGTGGATTTTTAGTAT 0.348000 5 29 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64589053 64589053 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:64589053C>T ENST00000357395.3 + 71 13629 c.2485C>T c.(2485-2487)Ccc>Tcc p.P829S SYNE2_ENST00000344113.4_Missense_Mutation_p.P4444S|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.P829S|SYNE2_ENST00000553455.1_Missense_Mutation_p.P163S|SYNE2_ENST00000358025.3_Missense_Mutation_p.P4444S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.P1078S Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4444 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GATCTTGTCACCCCAGGGCCA 0.443000 10 42 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104120149 104120149 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104120149G>A ENST00000361355.4 + 10 1755 c.1139G>A c.(1138-1140)gGa>gAa p.G380E AMY2B_ENST00000491397.1_Intron NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 380 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) AATAATAATGGAGTAATTAAA 0.358000 14 315 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179534331 179534331 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179534331G>A ENST00000589042.1 - 158 35682 c.35458C>T c.(35458-35460)Cca>Tca p.P11820S TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9943 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) TTAGCTGGTGGAACTTCAGGC 0.333000 20 152 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44869822 44869822 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:44869822G>A ENST00000372262.3 - 2 730 c.330C>T c.(328-330)ttC>ttT p.F110F CDH22_ENST00000537909.1_Silent_p.F110F NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 110 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGTCGATCAGGAAGATGGTCC 0.617000 8 30 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393845 154393845 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:154393845G>A ENST00000435029.4 + 1 586 c.426G>A c.(424-426)gaG>gaA p.E142E NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 142 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTTACTTAGAGATTTACAATG 0.358000 19 83 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19884066 19884066 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19884066G>A ENST00000300571.2 - 2 293 c.102C>T c.(100-102)tcC>tcT p.S34S GPRC5B_ENST00000535671.1_Silent_p.S34S|GPRC5B_ENST00000569847.1_Silent_p.S34S|GPRC5B_ENST00000569479.1_Silent_p.S34S|GPRC5B_ENST00000537135.1_Silent_p.S60S NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 34 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACAGCCTCGGGATGTGCTGG 0.637000 11 39 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82422900 82422900 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:82422900G>A ENST00000268206.7 - 20 3345 c.3177C>T c.(3175-3177)atC>atT p.I1059I EFTUD1_ENST00000359445.3_Silent_p.I1008I NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 1059 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 CACTGGGAATGATCTTGTAAA 0.428000 8 72 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591657 70591657 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:70591657G>A ENST00000260126.3 - 8 2686 c.1980C>T c.(1978-1980)ttC>ttT p.F660F SLCO5A1_ENST00000524945.1_Silent_p.F660F|SLCO5A1_ENST00000530307.1_Silent_p.F605F NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 660 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATGCTGTGATGAAGGTGACTA 0.423000 9 101 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936573 30936573 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:30936573G>A ENST00000355537.3 + 2 2251 c.2104G>A c.(2104-2106)Ggc>Agc p.G702S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 702 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) CGGGGTCGGAGGCGGCCTCTC 0.687000 3 38 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19455518 19455518 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19455518G>A ENST00000396229.2 + 4 1653 c.904G>A c.(904-906)Gag>Aag p.E302K TMC5_ENST00000542583.2_Missense_Mutation_p.E302K|TMC5_ENST00000541464.1_Missense_Mutation_p.E302K|TMC5_ENST00000381414.4_Missense_Mutation_p.E302K NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 302 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCATCCATGGAGATGGCAAA 0.483000 6 68 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119244029 119244029 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:119244029G>A ENST00000260187.2 - 2 456 c.162C>T c.(160-162)gtC>gtT p.V54V USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 54 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TGCTGGTGGGGACCGGCTTGA 0.627000 8 75 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516931 157516931 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:157516931C>T ENST00000361835.3 - 3 266 c.109G>A c.(109-111)Gga>Aga p.G37R FCRL5_ENST00000368190.3_Missense_Mutation_p.G37R|FCRL5_ENST00000368189.3_Missense_Mutation_p.G37R|FCRL5_ENST00000368188.2_Missense_Mutation_p.G37R|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Missense_Mutation_p.G37R NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 37 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACTCTCTCTCCTTGGAAGACT 0.493000 20 96 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79611396 79611396 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:79611396G>A ENST00000261205.4 + 4 754 c.97G>A c.(97-99)Gga>Aga p.G33R SYT1_ENST00000393240.3_Missense_Mutation_p.G33R|SYT1_ENST00000552744.1_Missense_Mutation_p.G33R|SYT1_ENST00000457153.2_Missense_Mutation_p.G33R NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 33 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AGCCAGTCCTGGAGAAGGAAA 0.468000 13 46 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156964930 156964930 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156964930C>T ENST00000257527.4 - 4 399 c.321G>A c.(319-321)cgG>cgA p.R107R ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.R109R|ADAM19_ENST00000517905.1_Silent_p.R107R NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 107 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTCCAATTTCCGTGTGGTGG 0.453000 4 56 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612649 179612649 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179612649G>A ENST00000360870.5 - 46 14700 c.14478C>T c.(14476-14478)ctC>ctT p.L4826L TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 936 Ig-like 28. 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) GACTCAGGGAGAGCTGTCTAT 0.448000 7 32 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700570 7700570 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:7700570G>A ENST00000303635.7 + 7 828 c.621G>A c.(619-621)gcG>gcA p.A207A CAMTA1_ENST00000439411.2_Silent_p.A207A NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGGAGTGGGCGAAATGGACGA 0.627000 T WWTR1 epitheliod hemangioendothelioma 24 102 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209348 140209348 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140209348G>A ENST00000529310.1 + 1 1786 c.1672G>A c.(1672-1674)Gag>Aag p.E558K PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGCTGGACGAGAACGACAA 0.687000 8 126 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767176 57767176 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57767176G>A ENST00000371030.2 + 1 1102 c.1102G>A c.(1102-1104)Gag>Aag p.E368K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 368 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) CAGCCTTTCGGAGCACAGCGC 0.756000 11 23 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46921426 46921426 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:46921426C>T ENST00000378623.1 - 4 660 c.418G>A c.(418-420)Gat>Aat p.D140N NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 140 LDL-receptor class A 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity p.D140N(1) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CACTGCTCATCGCTGTTGTCG 0.617000 20 77 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100627975 100627975 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:100627975C>T ENST00000356421.2 - 3 255 c.112G>A c.(112-114)Gcc>Acc p.A38T AFF3_ENST00000409579.1_Missense_Mutation_p.A38T|AFF3_ENST00000409236.1_Intron|AFF3_ENST00000317233.4_Intron NM_001025108.1 NP_001020279.1 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 17 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CATCTGCTGGCTGATGACTGA 0.453000 9 127 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62378355 62378355 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62378355C>T ENST00000245663.4 - 5 1848 c.1698G>A c.(1696-1698)aaG>aaA p.K566K ZBTB46_ENST00000302995.2_Silent_p.K566K|ZBTB46_ENST00000395104.1_Silent_p.K566K NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTTCCTCATCCTTGTCGTCCG 0.716000 9 47 0 0 1 0 0 UGT1A3 54659 broad.mit.edu 37 2 234638226 234638226 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234638226G>A ENST00000482026.1 + 1 473 c.454G>A c.(454-456)Gac>Aac p.D152N UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron NM_019093.2 NP_061966.1 breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 46 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;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGTTTTAACAGACCCCGTTAA 0.448000 12 181 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33592448 33592448 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:33592448G>A ENST00000228567.3 - 1 306 c.10C>T c.(10-12)Cac>Tac p.H4Y SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 4 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) TCCTCCTTGTGGAAACTCATC 0.542000 15 188 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110588104 110588104 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110588104G>A ENST00000399066.3 - 6 1741 c.1014C>T c.(1012-1014)atC>atT p.I338I SYBU_ENST00000528647.1_Silent_p.I340I|SYBU_ENST00000422135.1_Silent_p.I341I|SYBU_ENST00000446070.2_Silent_p.I340I|SYBU_ENST00000533895.1_Silent_p.I340I|SYBU_ENST00000276646.9_Silent_p.I341I|SYBU_ENST00000528331.1_Silent_p.I222I|SYBU_ENST00000533171.1_Silent_p.I341I|SYBU_ENST00000419099.1_Silent_p.I340I|SYBU_ENST00000408908.2_Silent_p.I341I|SYBU_ENST00000440310.1_Silent_p.I341I|SYBU_ENST00000529690.1_Silent_p.I211I|SYBU_ENST00000408889.3_Silent_p.I222I|SYBU_ENST00000532779.1_Silent_p.I273I|SYBU_ENST00000433638.1_Silent_p.I341I|SYBU_ENST00000529175.1_Silent_p.I135I|SYBU_ENST00000533065.1_Silent_p.I222I|SYBU_ENST00000424158.2_Silent_p.I346I NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 341 Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GCATGGTTTCGATGACCTGTT 0.468000 17 72 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704166 113704166 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:113704166C>T ENST00000374431.3 - 4 711 c.328G>A c.(328-330)Gga>Aga p.G110R LPAR1_ENST00000541779.1_Missense_Mutation_p.G111R|LPAR1_ENST00000358883.4_Missense_Mutation_p.G110R|LPAR1_ENST00000374430.2_Missense_Mutation_p.G110R|LPAR1_ENST00000538760.1_Missense_Mutation_p.G111R NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 110 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GTATTGGGTCCTGTGTTGAAC 0.502000 17 140 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44069556 44069556 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:44069556C>T ENST00000359947.4 + 16 3073 c.2733C>T c.(2731-2733)ccC>ccT p.P911P PTPRF_ENST00000438120.1_Silent_p.P902P|PTPRF_ENST00000372414.3_Silent_p.P911P|PTPRF_ENST00000372413.3_Silent_p.P902P|PTPRF_ENST00000422171.2_Silent_p.P259P|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 911 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCAGGACCCCCGAGGACCTGC 0.632000 8 42 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582574 55582574 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:55582574C>T ENST00000361849.3 - 34 5312 c.4918G>A c.(4918-4920)Gaa>Aaa p.E1640K PCDH15_ENST00000395430.1_Missense_Mutation_p.E1635K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1615K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1598K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1638K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1569K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1638 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGCCTTATTTCCTCTTTCTCT 0.398000 HNSCC(58;0.16) 8 98 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491771 151491771 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:151491771C>T ENST00000271636.7 + 2 909 c.776C>T c.(775-777)cCt>cTt p.P259L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 253 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AACCTGAGTCCTCTCAGTGGC 0.582000 7 73 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436195 42436195 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:42436195G>A ENST00000397272.3 - 18 2220 c.2129C>T c.(2128-2130)tCc>tTc p.S710F PLA2G4F_ENST00000382396.4_Missense_Mutation_p.S708F NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 708 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGCTTCCAAGGAATAGTCAAA 0.577000 4 87 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918682 21918682 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:21918682C>T ENST00000240662.2 - 3 1595 c.1250G>A c.(1249-1251)gGa>gAa p.G417E RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 417 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GTTTTGATTTCCTTCTGGAGT 0.423000 11 70 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135470257 135470257 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:135470257A>G ENST00000372159.3 - 20 2703 c.2552T>C c.(2551-2553)gTt>gCt p.V851A DDX31_ENST00000438527.3_Missense_Mutation_p.V722A|DDX31_ENST00000372153.1_Missense_Mutation_p.V778A NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 851 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GAGATTTTAAACTTTCTGGGA 0.498000 15 131 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74828607 74828607 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:74828607G>A ENST00000412021.2 - 6 793 c.460C>T c.(460-462)Cca>Tca p.P154S P4HA1_ENST00000263556.3_Missense_Mutation_p.P154S|P4HA1_ENST00000440381.1_Missense_Mutation_p.P154S|P4HA1_ENST00000394890.2_Missense_Mutation_p.P154S|P4HA1_ENST00000373008.2_Missense_Mutation_p.P154S|P4HA1_ENST00000307116.2_Missense_Mutation_p.P154S NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 154 endoplasmic reticulum lumen|mitochondrion 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 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATCTTACCTGGAAGATTACCC 0.378000 8 75 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56410268 56410268 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56410268C>T ENST00000588751.1 - 10 2849 c.2825G>A c.(2824-2826)gGa>gAa p.G942E NLRP13_ENST00000342929.3_Missense_Mutation_p.G942E Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 942 ATP binding p.G942E(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCCAGCTCTCCACAGCCCTC 0.433000 7 79 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32011607 32011607 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32011607G>A ENST00000375244.3 - 35 11650 c.11449C>T c.(11449-11451)Cca>Tca p.P3817S TNXB_ENST00000451343.1_Missense_Mutation_p.P246S|TNXB_ENST00000375247.2_Missense_Mutation_p.P3815S P22105 TENX_HUMAN tenascin XB 3862 Fibronectin type-III 30. 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 CGAGCGCCTGGGATCAGCCCC 0.627000 34 132 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7095250 7095250 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7095250G>A ENST00000399510.2 - 20 2919 c.2067C>T c.(2065-2067)atC>atT p.I689I DLG4_ENST00000302955.6_Silent_p.I643I|DLG4_ENST00000399506.2_Silent_p.I646I NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 646 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TGAAGATGGCGATGGGGTGCA 0.692000 30 86 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6452884 6452884 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6452884G>A ENST00000265983.3 - 9 1216 c.1116C>T c.(1114-1116)ctC>ctT p.L372L NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 372 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) CCATGATATGGAGCCGAGAAG 0.582000 11 56 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221668 118221668 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:118221668C>T ENST00000402510.2 - 11 3524 c.3525G>A c.(3523-3525)gaG>gaA p.E1175E NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1175 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CAGCCATTTTCTCTAGTCGTG 0.458000 10 29 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19653485 19653485 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:19653485G>A ENST00000284885.3 - 22 2573 c.2540C>T c.(2539-2541)tCa>tTa p.S847L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 847 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GGTCAGATTTGATTTCATATG 0.408000 9 122 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691818 49691818 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:49691818C>T ENST00000296452.4 + 5 4943 c.4829C>T c.(4828-4830)cCt>cTt p.P1610L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1610 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCAGAGCCACCTGGGCCACCT 0.642000 3 34 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423242 48423242 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:48423242G>A ENST00000296438.5 + 9 1224 c.1038G>A c.(1036-1038)tgG>tgA p.W346* FBXW12_ENST00000445170.1_Nonsense_Mutation_p.W327*|FBXW12_ENST00000436231.1_Nonsense_Mutation_p.W189*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.W276*|FBXW12_ENST00000468158.1_3'UTR NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 346 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCCTATCTGGATGGGAGCCA 0.443000 6 40 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341549 121341549 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121341549G>A ENST00000338040.4 + 3 1687 c.1273G>A c.(1273-1275)Gat>Aat p.D425N NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 425 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) ACTGTTCATGGATTTTGCCAC 0.502000 21 101 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6228297 6228297 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:6228297G>A ENST00000262450.3 - 2 219 c.120C>T c.(118-120)ttC>ttT p.F40F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 40 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) GCTCCACAGGGAAAAAGTCAT 0.502000 21 178 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85447026 85447026 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:85447026G>A ENST00000369663.5 - 8 1538 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 401 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.H401Y(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGCCCCAGATGGAAGGCAGGA 0.577000 12 61 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 56963880 56963880 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:56963880C>A ENST00000370708.4 + 3 305 c.127C>A c.(127-129)Ctt>Att p.L43I ZNF451_ENST00000357489.3_Missense_Mutation_p.L43I|ZNF451_ENST00000370702.1_Missense_Mutation_p.L43I|ZNF451_ENST00000491832.2_Missense_Mutation_p.L43I|ZNF451_ENST00000370706.4_Missense_Mutation_p.L43I|ZNF451_ENST00000370711.5_3'UTR|ZNF451_ENST00000370710.6_Missense_Mutation_p.L43I NM_001257273.1 NP_001244202.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACGACCTGTTCTTGAATACAT 0.333000 5 35 0.217242 0.217288 1 1 0 PLCB3 5331 broad.mit.edu 37 11 64024099 64024099 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:64024099C>T ENST00000540288.1 + 10 978 c.875C>T c.(874-876)tCc>tTc p.S292F PLCB3_ENST00000325234.5_Missense_Mutation_p.S225F|PLCB3_ENST00000279230.6_Missense_Mutation_p.S292F NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 292 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GACCAGATGTCCATGGAGGGC 0.647000 5 53 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466730 56466730 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56466730C>T ENST00000291971.3 + 3 1377 c.1306C>T c.(1306-1308)Ccc>Tcc p.P436S NLRP8_ENST00000590542.1_Missense_Mutation_p.P436S NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 436 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TAGCTTGTTTCCCACCAGAGC 0.488000 12 76 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55047029 55047029 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55047029G>A ENST00000335056.3 + 4 612 c.574G>A c.(574-576)Gcc>Acc p.A192T KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) CCATGCAGGAGCCTACAGATG 0.567000 12 46 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33148110 33148110 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33148110C>T ENST00000341947.2 - 12 1512 c.e12-1 COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CAGGGGGGCCCTGGAGTGGGA 0.502000 17 64 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183853958 183853958 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:183853958C>T ENST00000304685.3 + 8 1403 c.942C>T c.(940-942)acC>acT p.T314T RGL1_ENST00000367531.1_Silent_p.T314T|RGL1_ENST00000539189.1_Silent_p.T279T|RGL1_ENST00000536277.1_Silent_p.T277T|RGL1_ENST00000360851.3_Silent_p.T279T NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 279 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TCCGTGCCACCATCTCTCAGT 0.473000 4 70 0 0 1 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461428 10461428 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:10461428C>T ENST00000503804.1 + 5 1071 c.550C>T c.(550-552)Ccc>Tcc p.P184S ROPN1L_ENST00000274134.4_Missense_Mutation_p.P184S|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 184 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 AGATGTGTCTCCCTTGGAGAC 0.507000 8 115 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36421162 36421162 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:36421162G>A ENST00000300305.3 - 1 479 c.35C>T c.(34-36)tCg>tTg p.S12L RUNX1_ENST00000437180.1_Missense_Mutation_p.S12L|RUNX1_ENST00000486278.2_5'UTR Q01196 RUNX1_HUMAN runt-related transcription factor 1 0 myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 CTGTGGGTACGAAGGAAATGA 0.458000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 10 111 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085591 9085591 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9085591G>A ENST00000397910.4 - 1 6427 c.6224C>T c.(6223-6225)tCa>tTa p.S2075L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2075 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAATGGCCTGAGGACAGTGC 0.463000 6 153 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164737435 164737435 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:164737435C>A ENST00000264382.3 - 28 3440 c.3378G>T c.(3376-3378)ctG>ctT p.L1126L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1126 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATTCCAGTTCAGATCTCGCT 0.433000 HNSCC(35;0.089) 10 59 0.00829132 0.00832097 1 1 0 HYAL4 23553 broad.mit.edu 37 7 123508731 123508731 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123508731C>T ENST00000223026.4 + 3 1042 c.404C>T c.(403-405)gCt>gTt p.A135V HYAL4_ENST00000476325.1_Missense_Mutation_p.A135V NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 135 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TACATCCCTGCTGAAGATTTC 0.423000 19 89 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319128 21319128 + Silent SNP C C T rs146165782 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:21319128C>T ENST00000583088.1 + 3 1369 c.474C>T c.(472-474)gcC>gcT p.A158A KCNJ12_ENST00000331718.5_Silent_p.A158A NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GCCCGGTGGCCGTCTTCATGG 0.622000 Prostate(3;0.18) 5 63 0 0 1 0 0 EDA2R 60401 broad.mit.edu 37 X 65819655 65819655 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:65819655G>A ENST00000374719.3 - 6 621 c.565C>T c.(565-567)Ctc>Ttc p.L189F EDA2R_ENST00000451436.2_Missense_Mutation_p.L65F|EDA2R_ENST00000450752.1_Missense_Mutation_p.L210F|EDA2R_ENST00000396050.1_Missense_Mutation_p.L189F|EDA2R_ENST00000456230.2_Missense_Mutation_p.L189F|EDA2R_ENST00000253392.5_Missense_Mutation_p.L210F NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 189 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 ACGGGGAAGAGAGATTCCTCC 0.532000 6 11 0 0 1 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596739 142596739 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:142596739C>T ENST00000370503.2 - 2 414 c.331G>A c.(331-333)Gag>Aag p.E111K GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 111 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TCTTTGTCCTCCTTTGAAGGT 0.468000 20 68 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157081161 157081161 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:157081161G>A ENST00000362010.2 - 9 2034 c.1727C>T c.(1726-1728)aCc>aTc p.T576I RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.T576I|VEPH1_ENST00000392832.2_Missense_Mutation_p.T576I|VEPH1_ENST00000543418.1_Missense_Mutation_p.T576I NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 576 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACCTTCAATGGTACACTGATC 0.373000 8 112 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069707 150069707 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150069707C>T ENST00000397281.2 + 4 1866 c.1377C>T c.(1375-1377)ttC>ttT p.F459F REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Silent_p.F516F|REPIN1_ENST00000540729.1_Silent_p.F459F|REPIN1_ENST00000425389.2_Silent_p.F459F|REPIN1_ENST00000444957.1_Silent_p.F459F NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 459 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) ATCGGCCCTTCGTGTGTCCCG 0.736000 4 53 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79517941 79517941 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:79517941G>A ENST00000537152.1 - 3 651 c.126C>T c.(124-126)ttC>ttT p.F42F C17orf70_ENST00000327787.8_Silent_p.F193F NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 193 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GCACTGGAAGGAAGTGGGGGG 0.701000 5 18 0 0 1 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031254 132031254 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:132031254C>T ENST00000314099.8 - 1 952 c.904G>A c.(904-906)Gaa>Aaa p.E302K ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 302 integral to membrane endometrium(1)|lung(1) 2 GCACCATTTTCCCATTGACTG 0.398000 4 47 0 0 1 0 0 DDAH1 23576 broad.mit.edu 37 1 85816137 85816137 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:85816137G>A ENST00000284031.8 - 4 652 c.558C>T c.(556-558)atC>atT p.I186I DDAH1_ENST00000535924.2_Silent_p.I83I|DDAH1_ENST00000539042.1_Silent_p.I186I|DDAH1_ENST00000426972.3_Silent_p.I93I|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Silent_p.I86I|RP11-131L23.1_ENST00000427819.1_RNA NM_012137.3 NP_036269.1 O94760 DDAH1_HUMAN dimethylarginine dimethylaminohydrolase 1 186 arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction dimethylargininase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1) 5 all cancers(265;0.0318)|Epithelial(280;0.0657) L-Citrulline(DB00155) ACCCAATTGCGATCAGGTTAG 0.483000 34 143 0 0 1 0 0 GATA4 2626 broad.mit.edu 37 8 11615844 11615844 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:11615844C>T ENST00000335135.4 + 7 1747 c.1189C>T c.(1189-1191)Cac>Tac p.H397Y GATA4_ENST00000528712.1_Missense_Mutation_p.H191Y|GATA4_ENST00000532059.1_Missense_Mutation_p.H398Y NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 397 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GCCCTCCATCCACCCTGTCCT 0.602000 12 94 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73658822 73658822 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:73658822G>A ENST00000420326.2 - 4 667 c.508C>T c.(508-510)Cgt>Tgt p.R170C RECQL5_ENST00000317905.5_Missense_Mutation_p.R170C|RECQL5_ENST00000584999.1_Missense_Mutation_p.R170C|RECQL5_ENST00000340830.5_Missense_Mutation_p.R170C|RECQL5_ENST00000423245.2_Missense_Mutation_p.R143C NM_001003715.3|NM_001003716.3 NP_001003715.1|NP_001003716.1 O94762 RECQ5_HUMAN RecQ protein-like 5 170 Helicase ATP-binding. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TAGTCAGGACGAAAGTCATGC 0.612000 Other identified genes with known or suspected DNA repair function 29 163 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138312939 138312939 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138312939G>A ENST00000421622.1 - 7 881 c.673C>T c.(673-675)Cgg>Tgg p.R225W SVOPL_ENST00000288513.5_Missense_Mutation_p.R193W|SVOPL_ENST00000436657.1_Missense_Mutation_p.R193W|SVOPL_ENST00000419765.3_Missense_Mutation_p.R345W Q8N434 SVOPL_HUMAN SVOP-like 345 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 ATCATGGTCCGATAGTCAGAG 0.547000 5 64 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579081 44579081 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:44579081G>A ENST00000289547.4 - 2 970 c.915C>T c.(913-915)ttC>ttT p.F305F NPC1L1_ENST00000546276.1_Silent_p.F305F|NPC1L1_ENST00000423141.1_Silent_p.F305F|NPC1L1_ENST00000381160.3_Silent_p.F305F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 305 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGGCCACACGGAATCCCACAA 0.602000 8 100 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106016288 106016288 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:106016288C>T ENST00000255499.2 + 2 880 c.630C>T c.(628-630)ttC>ttT p.F210F RNF128_ENST00000324342.3_Silent_p.F184F NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 210 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CAATTTTTTTCGTTTCTGTGT 0.393000 14 42 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118183326 118183326 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:118183326G>A ENST00000427715.2 + 10 1170 c.736G>A c.(736-738)Gac>Aac p.D246N SLC30A8_ENST00000519688.1_Missense_Mutation_p.D246N|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D246N|SLC30A8_ENST00000456015.2_Missense_Mutation_p.D295N NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 295 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TTTAGCAGTCGACGGGGTGCT 0.443000 5 76 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488310 108488310 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:108488310C>T ENST00000408999.3 + 20 3927 c.3850C>T c.(3850-3852)Cat>Tat p.H1284Y RGPD4_ENST00000354986.4_Missense_Mutation_p.H1284Y NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1284 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAATCTTTTCCATTTTGGTGA 0.408000 42 258 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73478005 73478005 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:73478005C>T ENST00000252034.7 + 29 2372 c.1973C>T c.(1972-1974)cCa>cTa p.P658L ELN_ENST00000320399.6_Missense_Mutation_p.P691L|ELN_ENST00000320492.7_Missense_Mutation_p.P577L|ELN_ENST00000380553.4_Missense_Mutation_p.P522L|ELN_ENST00000358929.4_Missense_Mutation_p.P726L|ELN_ENST00000380584.4_Missense_Mutation_p.P610L|ELN_ENST00000429192.1_Missense_Mutation_p.P644L|ELN_ENST00000458204.1_Missense_Mutation_p.P648L|ELN_ENST00000414324.1_Missense_Mutation_p.P634L|ELN_ENST00000380562.4_Missense_Mutation_p.P664L|ELN_ENST00000380575.4_Missense_Mutation_p.P629L|ELN_ENST00000380576.5_Missense_Mutation_p.P639L|ELN_ENST00000357036.5_Missense_Mutation_p.P663L|ELN_ENST00000445912.1_Missense_Mutation_p.P658L NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 720 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTTGGAGTTCCAGGTGTTGGG 0.572000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 8 87 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307481 37307481 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:37307481G>A ENST00000373091.3 - 10 1402 c.1386C>T c.(1384-1386)ttC>ttT p.F462F GRIK3_ENST00000373093.4_Silent_p.F462F NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 462 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGTAGCCCTCGAACCGGTCAT 0.572000 39 140 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70049357 70049357 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70049357C>T ENST00000370598.1 + 26 4241 c.3420C>T c.(3418-3420)ggC>ggT p.G1140G BAI3_ENST00000546190.1_Silent_p.G104G|BAI3_ENST00000238918.8_Silent_p.G346G NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1140 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CATTGCAAGGCTTTGTTATAG 0.423000 23 115 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16907354 16907354 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16907354G>A ENST00000430580.2 - 16 2364 c.1477C>T c.(1477-1479)Cag>Tag p.Q493* NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 493 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TTGTGAGGCTGGTTGGAGTCA 0.488000 48 1803 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48888608 48888608 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48888608G>A ENST00000314014.2 + 8 401 c.270G>A c.(268-270)atG>atA p.M90I C12orf54_ENST00000548364.1_Missense_Mutation_p.M90I|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 90 endometrium(1)|large_intestine(4) 5 ATTCCTTGATGACCCCAAAGT 0.483000 6 103 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35957327 35957327 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:35957327C>T ENST00000274278.3 - 5 1395 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A1_ENST00000503189.1_Silent_p.V346V|UGT3A1_ENST00000507113.1_Silent_p.V312V|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 346 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGTGG 0.488000 4 47 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74275124 74275124 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:74275124C>T ENST00000295897.4 + 5 624 c.535C>T c.(535-537)Ctt>Ttt p.L179F ALB_ENST00000401494.3_Missense_Mutation_p.L64F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.L179F|ALB_ENST00000503124.1_Missense_Mutation_p.L29F|ALB_ENST00000415165.2_Intron NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 179 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CCCGGAACTCCTTTTCTTTGC 0.353000 9 47 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64225435 64225435 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:64225435C>T ENST00000205948.6 - 1 100 c.64_splice c.e1+1 p.R21_splice NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 21 Sushi 1. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) AGTACTTACTCCGTCCTGCAA 0.418000 4 19 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408535 29408535 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29408535C>T ENST00000444197.2 + 1 1453 c.743C>T c.(742-744)tCc>tTc p.S248F OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ATCATGGTCTCCCTCTTCTAT 0.587000 49 334 0 0 1 0 0 RP11-159L20.2 0 broad.mit.edu 37 14 31290715 31290715 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:31290715C>T ENST00000554665.1 - 0 208 AAGCTGTCATCGTGAAGAACA 0.522000 8 28 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55748300 55748300 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:55748300T>G ENST00000395863.3 - 6 1607 c.1102A>C c.(1102-1104)Aac>Cac p.N368H BMP7_ENST00000395864.3_Missense_Mutation_p.N302H|BMP7_ENST00000450594.2_Missense_Mutation_p.N368H|BMP7_ENST00000460817.1_5'UTR NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 368 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) ATGTAGGAGTTCAGAGGGAAG 0.627000 8 46 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890625 63890625 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:63890625C>T ENST00000334025.2 + 4 878 c.552C>T c.(550-552)tcC>tcT p.S184S NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 184 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CCTCATCATCCCCCGTAGATA 0.498000 7 82 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2074804 2074804 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:2074804G>A ENST00000280665.6 - 5 521 c.442C>T c.(442-444)Cca>Tca p.P148S DCP1B_ENST00000540622.1_Missense_Mutation_p.P22S|DCP1B_ENST00000397173.4_Missense_Mutation_p.P46S|DCP1B_ENST00000541700.1_Intron NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 148 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AGGATCACTGGGGAAATTCCT 0.438000 4 35 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17779260 17779260 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:17779260G>A ENST00000378814.5 - 32 3970 c.3971C>T c.(3970-3972)tCa>tTa p.S1324L KIF13A_ENST00000259711.6_Missense_Mutation_p.S1337L|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1337L|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1324L|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1337L NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1337 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTCCCCATCTGATGTGCCTTC 0.517000 3 32 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33504138 33504138 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:33504138C>T ENST00000268876.5 + 16 2231 c.2134C>T c.(2134-2136)Cct>Tct p.P712S UNC45B_ENST00000378449.1_Missense_Mutation_p.P631S|UNC45B_ENST00000394570.2_Missense_Mutation_p.P710S|UNC45B_ENST00000591048.1_Missense_Mutation_p.P631S|UNC45B_ENST00000433649.1_Missense_Mutation_p.P710S NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 712 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CATTGCTTTTCCTGGGGAGCG 0.577000 14 42 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96581894 96581894 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:96581894C>A ENST00000456556.1 - 37 2457 c.2373G>T c.(2371-2373)ttG>ttT p.L791F ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCATTACCTTCAAGGCTGGTT 0.338000 5 21 1.23904e-05 1.24873e-05 1 1 0 FAM47A 158724 broad.mit.edu 37 X 34148247 34148247 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:34148247G>A ENST00000346193.3 - 1 2200 c.2149C>T c.(2149-2151)Ccc>Tcc p.P717S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 717 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AAGAGCTTGGGGTCAATCAAA 0.408000 23 42 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261757 16261757 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16261757C>T ENST00000375759.3 + 11 9226 c.9022C>T c.(9022-9024)Cca>Tca p.P3008S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3008 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCCCAGCATCCCAGCAGATCG 0.617000 13 69 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2321084 2321084 + Missense_Mutation SNP C C T rs147532262 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2321084C>T ENST00000381458.5 + 13 2002 c.1939C>T c.(1939-1941)Ccg>Tcg p.P647S NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 647 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CATCAGCGTGCCGACCCTAGG 0.612000 7 92 0 0 1 0 0 BAX 581 broad.mit.edu 37 19 49464300 49464300 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49464300C>T ENST00000293288.8 + 5 603 c.603C>T c.(601-603)ctC>ctT p.L201L BAX_ENST00000345358.7_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000415969.2_Intron NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 0 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) GGTGCCCTCTCCCCATCTTCA 0.612000 16 68 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70977783 70977783 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:70977783C>T ENST00000393567.2 - 42 6751 c.6601G>A c.(6601-6603)Gag>Aag p.E2201K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2201 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCCCGGTCTCGCCTCCGACA 0.617000 4 16 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314545 176314545 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:176314545G>A ENST00000292432.5 - 11 1598 c.1507C>T c.(1507-1509)Cag>Tag p.Q503* NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 503 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCGCATCTGTGCCTGAACC 0.677000 11 39 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66707833 66707833 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:66707833C>T ENST00000247815.4 + 5 1807 c.1748C>T c.(1747-1749)tCg>tTg p.S583L NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 583 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AAATTTTCTTCGGTTAGAGTT 0.378000 10 73 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110168320 110168320 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:110168320C>T ENST00000256578.3 + 3 781 c.421C>T c.(421-423)Cgt>Tgt p.R141C AMPD2_ENST00000342115.4_Missense_Mutation_p.R60C|AMPD2_ENST00000358729.4_Missense_Mutation_p.R66C|AMPD2_ENST00000393688.3_Missense_Mutation_p.R22C|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.R141C|AMPD2_ENST00000528454.1_Missense_Mutation_p.R23C NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 141 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GAGCGAGCTCCGTAGTGCCCC 0.652000 10 65 0 0 1 0 0 ROGDI 79641 broad.mit.edu 37 16 4849730 4849730 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:4849730C>T ENST00000322048.7 - 6 767 c.389G>A c.(388-390)cGg>cAg p.R130Q ROGDI_ENST00000586336.1_5'UTR NM_024589.2 NP_078865.1 Q9GZN7 ROGDI_HUMAN rogdi homolog (Drosophila) 130 intracellular endometrium(2)|lung(1)|ovary(1)|skin(1) 5 GCTCTGGTCCCGGCTGGTAAG 0.612000 4 21 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865198 118865198 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:118865198G>A ENST00000295622.1 + 1 202 c.162G>A c.(160-162)caG>caA p.Q54Q NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 54 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TAGCTGACCAGACTGCCCTAA 0.527000 3 37 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43473430 43473430 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43473430C>T ENST00000260403.2 + 13 1817 c.1538C>T c.(1537-1539)tCc>tTc p.S513F TMEM62_ENST00000569369.1_3'UTR|EPB42_ENST00000563128.1_Intron NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 513 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TGCTGCTTTTCCTTTGGGATA 0.338000 16 133 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572917 142572917 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142572917C>T ENST00000359396.3 - 9 1368 c.1122_splice c.e9-1 p.E375_splice NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 375 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) ATGTAGGCTTCCTAATGGGGG 0.532000 9 60 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36089966 36089966 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:36089966C>A ENST00000378660.1 + 3 256 c.68C>A c.(67-69)aCt>aAt p.T23N CHDC2_ENST00000313548.4_Missense_Mutation_p.T23N calponin homology domain containing 2 CTTAAGAAGACTAGAGATGGT 0.373000 8 9 3.09899e-07 3.12916e-07 1 1 0 TMF1 7110 broad.mit.edu 37 3 69097638 69097638 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:69097638G>A ENST00000543976.1 - 2 464 c.218C>T c.(217-219)cCa>cTa p.P73L TMF1_ENST00000398559.2_Missense_Mutation_p.P73L|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 73 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GGCTATTGGTGGACTCTGAGG 0.428000 8 102 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57714429 57714429 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:57714429G>A ENST00000333493.4 + 8 942 c.781G>A c.(781-783)Gac>Aac p.D261N GPR97_ENST00000327655.6_Missense_Mutation_p.D51N|GPR97_ENST00000450388.3_Missense_Mutation_p.D141N NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 261 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACCCACCTTGGACCAGTCCAC 0.597000 9 34 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155159934 155159934 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:155159934G>A ENST00000368395.1 - 6 1271 c.1200C>T c.(1198-1200)gcC>gcT p.A400A MUC1_ENST00000438413.1_Silent_p.A154A|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000337604.5_Silent_p.A198A|MUC1_ENST00000368398.3_Silent_p.A155A|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000338684.5_Silent_p.A149A|MUC1_ENST00000343256.5_Silent_p.A128A|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Silent_p.A189A|MUC1_ENST00000457295.2_Silent_p.A189A|MUC1_ENST00000368390.3_Silent_p.A180A|MUC1_ENST00000342482.4_Silent_p.A91A NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1180 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CACTCACCAAGGCAATGAGAT 0.622000 T IGH@ B-NHL 10 67 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123369869 123369869 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:123369869C>T ENST00000275162.4 + 4 2002 c.667C>T c.(667-669)Cgg>Tgg p.R223W CLVS2_ENST00000368438.1_Missense_Mutation_p.R77W NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 223 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GGAGAAAACTCGGAAAAGGGT 0.378000 11 75 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39788363 39788363 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:39788363C>T ENST00000564288.1 + 32 4890 c.4113C>T c.(4111-4113)tcC>tcT p.S1371S MACF1_ENST00000567887.1_Silent_p.S1408S|MACF1_ENST00000539005.1_Silent_p.S1376S|MACF1_ENST00000372915.3_Silent_p.S1376S|MACF1_ENST00000545844.1_Silent_p.S1376S|MACF1_ENST00000361689.2_Silent_p.S1376S|MACF1_ENST00000317713.7_Silent_p.S1376S|MACF1_ENST00000476350.1_3'UTR Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1376 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCATGCTTTCCTCTTCAGATG 0.478000 21 67 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118657993 118657993 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:118657993C>T ENST00000336338.5 - 4 452 c.387G>A c.(385-387)ttG>ttA p.L129L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 129 Lys-rich. cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTGAAATTTCAAGAGTTTCC 0.378000 7 60 0 0 1 0 0 TOB1 10140 broad.mit.edu 37 17 48941183 48941183 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48941183G>A ENST00000499247.2 - 2 629 c.196C>T c.(196-198)Cca>Tca p.P66S TOB1_ENST00000268957.3_Missense_Mutation_p.P66S|TOB1_ENST00000509385.1_5'UTR NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 66 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCAATCACTGGGTCCACTTTC 0.433000 10 131 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44116454 44116454 + Silent SNP G G A rs139663254 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:44116454G>A ENST00000262419.6 - 9 2801 c.2331C>T c.(2329-2331)ccC>ccT p.P777P KANSL1_ENST00000572904.1_Silent_p.P777P|KANSL1_ENST00000432791.1_Silent_p.P777P|KANSL1_ENST00000393476.3_Intron|KANSL1_ENST00000575318.1_Intron|KANSL1_ENST00000574590.1_Silent_p.P777P NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 777 MLL1 complex protein binding GGTCATGCACGGGTGGTGGTG 0.582000 9 134 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23321935 23321935 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:23321935C>T ENST00000298032.5 + 18 2476 c.2392C>T c.(2392-2394)Cga>Tga p.R798* ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R535*|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R791* NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 798 binding p.R798*(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTTCTACCATCGAGCTTTGCT 0.363000 4 44 0 0 1 0 0 CLDN10 9071 broad.mit.edu 37 13 96229504 96229504 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:96229504C>T ENST00000376873.3 + 4 708 c.478C>T c.(478-480)Ctg>Ttg p.L160L CLDN10_ENST00000299339.2_Silent_p.L162L NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 162 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) AGGAGCCGCTCTGTTTATTGG 0.378000 5 37 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100192761 100192761 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100192761G>A ENST00000241071.6 + 7 1311 c.989G>A c.(988-990)gGg>gAg p.G330E FBXO24_ENST00000468962.1_Missense_Mutation_p.G318E|FBXO24_ENST00000465843.1_Intron|PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G368E|FBXO24_ENST00000360609.2_Intron NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 330 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CATACCCCAGGGGTGTATCGC 0.602000 21 74 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583685 10583685 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:10583685G>T ENST00000304501.1 - 2 808 c.730C>A c.(730-732)Ccg>Acg p.P244T SOX7_ENST00000554914.1_Missense_Mutation_p.P296T|SOX7_ENST00000553390.1_Missense_Mutation_p.P296T NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 244 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GCGTACTCCGGTGAGTACGGG 0.697000 9 49 0.000442599 0.000444838 1 1 0 XIST 7503 broad.mit.edu 37 X 73064710 73064710 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73064710C>T ENST00000429829.1 - 0 7878 NR_001564.2 CTTGACTGTCCAAATGTAAGG 0.502000 6 38 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100385644 100385644 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100385644C>T ENST00000542585.1 + 0 7258 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGGAGCCCCTCCTCGTGGAAG 0.552000 4 75 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537629 55537629 + Missense_Mutation SNP G G A rs141279458 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55537629G>A ENST00000220676.1 + 4 1335 c.1187G>A c.(1186-1188)cGa>cAa p.R396Q NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 396 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTATGGAGCGAAGCAGTAAT 0.433000 6 43 0 0 1 0 0 LIM2 3982 broad.mit.edu 37 19 51883792 51883792 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51883792C>T ENST00000221973.3 - 4 595 c.553G>A c.(553-555)Ggc>Agc p.G185S LIM2_ENST00000596399.1_Missense_Mutation_p.G143S NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 143 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) GCCACCCAGCCCAGGATGTAG 0.607000 28 189 0 0 1 0 0 CCSAP 126731 broad.mit.edu 37 1 229462600 229462600 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:229462600G>A ENST00000284617.2 - 3 645 c.521C>T c.(520-522)tCg>tTg p.S174L CCSAP_ENST00000366686.1_Missense_Mutation_p.S60L|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.S174L NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein TATTTTACTCGATGATCTTTG 0.463000 11 135 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48736792 48736792 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48736792G>A ENST00000544117.2 - 6 1989 c.1281C>T c.(1279-1281)ccC>ccT p.P427P ZNF641_ENST00000547026.1_Silent_p.P413P|ZNF641_ENST00000448928.3_Silent_p.P404P|ZNF641_ENST00000301042.3_Silent_p.P427P Q96N77 ZN641_HUMAN zinc finger protein 641 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 AGCTGTTCCGGGGACTTTGTC 0.552000 9 70 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431416 56431416 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56431416C>T ENST00000302969.2 + 1 279 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGGCTGACTTCCTAACAAATC 0.493000 32 158 0 0 1 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45567852 45567852 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:45567852C>T ENST00000256692.5 - 0 833 NR_037144.1 p.T99T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGCTCAACTCCGTTTGCCTTT 0.373000 9 55 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35122509 35122509 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:35122509C>T ENST00000381318.3 + 6 696 c.408C>T c.(406-408)tcC>tcT p.S136S AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Silent_p.S136S|ITSN1_ENST00000399349.1_Silent_p.S136S|ITSN1_ENST00000379960.5_Silent_p.S136S|ITSN1_ENST00000399355.2_Silent_p.S136S|ITSN1_ENST00000381291.4_Silent_p.S136S|ITSN1_ENST00000437442.2_Silent_p.S136S|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000399367.3_Silent_p.S136S|ITSN1_ENST00000399326.3_Silent_p.S136S|ITSN1_ENST00000381285.4_Silent_p.S136S|ITSN1_ENST00000399352.1_Silent_p.S136S NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 136 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CAATGGGATCCATTCCAGTTG 0.522000 3 43 0 0 1 0 0 AE000661.37 0 broad.mit.edu 37 14 22924275 22924275 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22924275G>A ENST00000514473.2 - 0 225 TRDJ4_ENST00000390474.1_RNA GAACCTATCTGGAGGTACAAC 0.418000 5 33 0 0 1 0 0 FAM20A 54757 broad.mit.edu 37 17 66538259 66538259 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:66538259C>T ENST00000592554.1 - 7 1698 c.976G>A c.(976-978)Gag>Aag p.E326K FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 326 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) ACAGCATACTCCGTCTTGCAC 0.607000 12 51 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975117 44975117 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:44975117G>A ENST00000340446.4 - 1 1365 c.1074C>T c.(1072-1074)tcC>tcT p.S358S NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 358 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTCTGAAGGGGACTCTTCAG 0.493000 40 100 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52775309 52775309 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:52775309C>T ENST00000257951.3 - 5 979 c.912_splice c.e5-1 p.E305_splice RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 305 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AACTGGATTTCCTGTGTTGGA 0.542000 6 97 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101706710 101706710 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:101706710A>G ENST00000409318.1 - 2 374 c.244T>C c.(244-246)Tta>Cta p.L82L TBC1D8_ENST00000376840.4_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 80 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CCATTCAGTAACTCACCACAT 0.478000 3 20 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47689679 47689679 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47689679C>T ENST00000371883.3 - 3 1120 c.544G>A c.(544-546)Gat>Aat p.D182N TAL1_ENST00000371884.2_Missense_Mutation_p.D180N|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.D180N P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 180 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GACTCACCATCAGTAATCTCC 0.567000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 11 194 0 0 1 0 0 EFTUD1 79631 broad.mit.edu 37 15 82443887 82443887 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:82443887G>A ENST00000268206.7 - 18 3076 c.2908C>T c.(2908-2910)Cgc>Tgc p.R970C EFTUD1_ENST00000359445.3_Missense_Mutation_p.R919C NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 970 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 AGTGCATAGCGACATGCTTCT 0.478000 23 102 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117180273 117180273 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:117180273G>A ENST00000003084.6 + 8 1121 c.989G>A c.(988-990)gGa>gAa p.G330E CFTR_ENST00000454343.1_Missense_Mutation_p.G330E NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 330 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTAATCAAAGGAATCATCCTC 0.463000 Cystic Fibrosis 15 68 0 0 1 0 0 HAUS5 23354 broad.mit.edu 37 19 36109359 36109359 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36109359C>T ENST00000203166.5 + 11 902 c.877C>T c.(877-879)Ctc>Ttc p.L293F HAUS5_ENST00000379045.2_Intron NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 293 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CATGGTTCATCTCATCCAGGT 0.627000 6 64 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82876171 82876171 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:82876171C>T ENST00000265077.3 + 15 10674 c.10109C>T c.(10108-10110)tCc>tTc p.S3370F VCAN_ENST00000343200.5_Missense_Mutation_p.S2383F|VCAN_ENST00000342785.4_Missense_Mutation_p.S1616F|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Missense_Mutation_p.S1568F|VCAN_ENST00000502527.2_Missense_Mutation_p.S629F NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3370 cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTAAAAATTCCTCATCAGCA 0.388000 3 32 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437145 120437145 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120437145C>T ENST00000369400.1 - 1 1973 c.1815G>A c.(1813-1815)atG>atA p.M605I NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 605 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CATCATTTATCATACCTAGGT 0.433000 11 134 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537115 5537115 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5537115G>A ENST00000380184.1 - 1 820 c.557C>T c.(556-558)tCc>tTc p.S186F HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 186 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTCCATGTTGGACAGAAGCCG 0.483000 8 97 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119054068 119054068 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:119054068C>T ENST00000409109.1 + 10 3435 c.2848C>T c.(2848-2850)Cct>Tct p.P950S NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000409991.1_Missense_Mutation_p.P950S|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.P950S|NLRX1_ENST00000525863.1_Intron Q86UT6 NLRX1_HUMAN NLR family member X1 950 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CACCCTTAATCCTTGGCGCAA 0.642000 8 62 0 0 1 0 0 CCM2L 140706 broad.mit.edu 37 20 30610518 30610518 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30610518G>A ENST00000300415.8 + 6 1002 c.989G>A c.(988-990)gGg>gAg p.G330E CCM2L_ENST00000262659.8_Missense_Mutation_p.G330E cerebral cavernous malformation 2-like ATCATCTACGGGGACCAGAGT 0.592000 7 81 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27536045 27536045 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:27536045C>T ENST00000574842.1 + 0 255 ACTCGGGTCTCCTAAAGATGA 0.403000 4 24 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55399627 55399627 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55399627C>T ENST00000355524.3 + 4 625 c.615C>T c.(613-615)tcC>tcT p.S205S FCAR_ENST00000482092.2_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000353758.4_Silent_p.S96S|FCAR_ENST00000469767.1_Silent_p.S205S|FCAR_ENST00000359272.4_Silent_p.S193S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000345937.4_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 205 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) ACCTGTGGTCCTTCCCCAGTA 0.597000 4 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499245 179499245 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179499245C>T ENST00000589042.1 - 230 42487 c.42263G>A c.(42262-42264)gGa>gAa p.G14088E TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5023E|TTN_ENST00000359218.5_Missense_Mutation_p.G5148E|TTN_ENST00000591111.1_Missense_Mutation_p.G12447E|TTN_ENST00000342175.6_Missense_Mutation_p.G5215E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11520E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12447 Fibronectin type-III 1. 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) TATATCAGGTCCTTTGGACCA 0.413000 4 78 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306202 54306202 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:54306202G>A ENST00000545554.1 + 1 1102 c.1102G>A c.(1102-1104)Gac>Aac p.D368N UNC13C_ENST00000260323.11_Missense_Mutation_p.D368N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D368N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 368 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) ACACCAGAGAGACTGCCCAAA 0.388000 5 56 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803561 185803561 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:185803561C>T ENST00000302277.6 + 4 4032 c.3438C>T c.(3436-3438)ctC>ctT p.L1146L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1146 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 TACCTCAGCTCTCAGTAGGAC 0.517000 15 101 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62724141 62724141 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62724141C>T ENST00000349451.3 + 4 480 c.68C>T c.(67-69)tCc>tTc p.S23F OPRL1_ENST00000336866.2_Missense_Mutation_p.S23F|OPRL1_ENST00000355631.4_Missense_Mutation_p.S23F NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 23 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GGCAACCTGTCCCTCCTGAGC 0.647000 16 109 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26179268 26179268 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:26179268G>A ENST00000264712.3 - 2 2170 c.1591C>T c.(1591-1593)Cac>Tac p.H531Y KIF3C_ENST00000405914.1_Missense_Mutation_p.H531Y NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 531 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCGTTGGTGTGATCCATGATG 0.587000 6 35 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032310 79032310 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:79032310C>T ENST00000446378.2 + 2 7753 c.7722C>T c.(7720-7722)atC>atT p.I2574I NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2574 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) AATCAGATATCTCTTTAGGTC 0.398000 3 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179490104 179490104 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179490104C>T ENST00000589042.1 - 241 44668 c.44444G>A c.(44443-44445)gGa>gAa p.G14815E TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5750E|TTN_ENST00000359218.5_Missense_Mutation_p.G5875E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13174E|TTN_ENST00000342175.6_Missense_Mutation_p.G5942E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12247E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13174 Fibronectin type-III 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G12247E(2)|p.G5875E(1)|p.G5750E(1)|p.G5942E(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) ATGAACTTTTCCTTCTGAACG 0.353000 11 142 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032779 74032779 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:74032779G>A ENST00000569673.1 - 3 1565 c.361C>T c.(361-363)Ccc>Tcc p.P121S C15orf59_ENST00000379822.4_Missense_Mutation_p.P121S|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 121 p.P121S(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGTCCGAGGGGGTAGAGACG 0.637000 17 126 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106139922 106139922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:106139922C>T ENST00000369704.3 + 9 1443 c.1309C>T c.(1309-1311)Cat>Tat p.H437Y CCDC147_ENST00000312902.5_Missense_Mutation_p.H59Y|CCDC147_ENST00000369703.1_Missense_Mutation_p.H59Y NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 437 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GATCATCTTTCATCTGGAAAA 0.493000 4 93 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46900704 46900704 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:46900704G>A ENST00000378623.1 - 21 3219 c.2977C>T c.(2977-2979)Cat>Tat p.H993Y NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 993 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TGGAAGACATGGATGTCCATT 0.612000 31 217 0 0 1 0 0 P2RX4 5025 broad.mit.edu 37 12 121659960 121659960 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:121659960C>T ENST00000337233.4 + 4 726 c.418C>T c.(418-420)Cac>Tac p.H140Y P2RX4_ENST00000543171.1_Missense_Mutation_p.H39Y|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000541532.1_Missense_Mutation_p.H140Y|P2RX4_ENST00000359949.7_Missense_Mutation_p.H156Y NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 140 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGCCGGCACCCACAGCAACGG 0.572000 6 100 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72673353 72673353 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:72673353G>A ENST00000373514.2 + 2 503 c.502_splice c.e2-1 p.G168_splice NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 168 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CTCCTAACAGGGAAAACCAGG 0.368000 3 15 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973377 29973377 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:29973377G>A ENST00000378993.1 + 11 2204 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E511K NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 511 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GATTCTAATTGAATGCAGTGA 0.448000 19 31 0 0 1 0 0 RNF32 140545 broad.mit.edu 37 7 156468501 156468501 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:156468501G>A ENST00000405335.1 + 9 1205 c.796G>A c.(796-798)Gaa>Aaa p.E266K AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.E266K|RNF32_ENST00000317955.5_Missense_Mutation_p.E266K|RNF32_ENST00000392743.2_Missense_Mutation_p.E266K|RNF32_ENST00000343665.4_Missense_Mutation_p.E242K|RNF32_ENST00000311822.8_Missense_Mutation_p.E266K Q9H0A6 RNF32_HUMAN ring finger protein 32 266 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) TCAGCAGTTGGAAGAAAAATG 0.493000 32 107 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004554 102004554 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:102004554C>T ENST00000372735.1 + 4 1216 c.631C>T c.(631-633)Ccc>Tcc p.P211S BHLHB9_ENST00000447531.1_Missense_Mutation_p.P211S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P211S|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P211S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P211S Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 211 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAAAAATAGGCCCAAGGACTG 0.468000 46 161 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137708471 137708471 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:137708471C>T ENST00000314358.5 + 2 501 c.301C>T c.(301-303)Cgt>Tgt p.R101C NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 101 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ATGGGCGCCCCGTGAGGACCC 0.522000 6 36 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155156308 155156308 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:155156308C>T ENST00000357232.3 - 25 8130 c.8131G>A c.(8131-8133)Gaa>Aaa p.E2711K NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2711 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E2711K(1) 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) TGATCTCCTTCCCCAAATGTT 0.532000 13 45 0 0 1 0 0 CENPL 91687 broad.mit.edu 37 1 173780289 173780289 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173780289G>A ENST00000356198.2 - 3 434 c.149C>T c.(148-150)cCc>cTc p.P50L CENPL_ENST00000367710.3_Missense_Mutation_p.P50L|CENPL_ENST00000345664.6_Missense_Mutation_p.P50L NM_001127181.2 NP_001120653.1 Q8N0S6 CENPL_HUMAN centromere protein L 50 mitotic prometaphase chromosome, centromeric region|cytosol|nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3) 11 CGAACACTGGGGAATTTTCCT 0.393000 7 115 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213183 9213183 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9213183G>A ENST00000305456.2 - 1 799 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GAGAACAATGGAGAGGTGAGA 0.463000 9 64 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080741 5080741 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5080741G>A ENST00000321522.2 - 1 116 c.117C>T c.(115-117)atC>atT p.I39I NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CTATGAGTGCGATCATGTACA 0.512000 11 34 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510298 26510298 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:26510298C>T ENST00000531191.1 + 8 1065 c.58C>T c.(58-60)Ccg>Tcg p.P20S CNKSR1_ENST00000374253.5_Missense_Mutation_p.P285S|CNKSR1_ENST00000361530.6_Missense_Mutation_p.P278S Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 285 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GAAGAAGATCCCGATACCGGA 0.657000 6 76 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582715 158582715 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158582715G>A ENST00000368148.3 - 51 7206 c.7026C>T c.(7024-7026)ttC>ttT p.F2342F SPTA1_ENST00000368147.3_Silent_p.F2339F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2342 EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGTCAATCAGGAAAGCAGTAT 0.458000 8 36 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097537 11097537 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:11097537G>A ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caacaagaacgaaactcACAG 0.557000 6 22 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982983 57982983 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57982983C>T ENST00000309433.6 + 1 767 c.767C>T c.(766-768)tCt>tTt p.S256F NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) ACTTGTGGCTCTCACCTGACA 0.483000 5 59 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349554 103349554 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:103349554G>A ENST00000357421.4 - 2 567 c.387C>T c.(385-387)gcC>gcT p.A129A NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 129 transport integral to membrane|mitochondrial inner membrane TGAGTGCCACGGCCTCCACCA 0.572000 29 92 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136969 40136969 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:40136969G>A ENST00000278198.2 - 2 2837 c.874C>T c.(874-876)Cat>Tat p.H292Y LRRC4C_ENST00000530763.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H292Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H292Y Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 292 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) CGCTCTAGATGATGCAAGGGA 0.468000 11 141 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33807119 33807119 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:33807119C>T ENST00000260908.7 - 2 227 c.110G>A c.(109-111)gGa>gAa p.G37E SLFN12L_ENST00000361112.4_Missense_Mutation_p.G66E|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G68E NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 69 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 AGTGACTCTTCCCACATTTAG 0.398000 3 20 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20994180 20994180 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20994180C>T ENST00000261383.3 - 49 7721 c.7722G>A c.(7720-7722)agG>agA p.R2574R DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2574 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCAGGCGGTTCCTGAAGGCAT 0.507000 16 76 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584699 82584699 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82584699G>A ENST00000423517.2 - 5 5907 c.5570C>T c.(5569-5571)tCt>tTt p.S1857F PCLO_ENST00000333891.8_Missense_Mutation_p.S1857F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1788 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGAATATTCAGAACAAGAAGA 0.408000 20 118 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995137 140995137 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140995137G>A ENST00000285879.4 + 4 2233 c.1947G>A c.(1945-1947)caG>caA p.Q649Q MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 649 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTTCTCAGAGTCCTCCTG 0.577000 HNSCC(15;0.026) 42 231 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51747049 51747049 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:51747049G>A ENST00000395052.3 + 3 1245 c.1011G>A c.(1009-1011)tgG>tgA p.W337* GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Nonsense_Mutation_p.W337* NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 337 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TGGACCCTTGGAACAACAGCC 0.627000 8 39 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149700081 149700081 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:149700081T>C ENST00000367456.1 + 4 1607 c.1030T>C c.(1030-1032)Tct>Cct p.S344P TAB2_ENST00000538427.1_Missense_Mutation_p.S344P|TAB2_ENST00000536230.1_Missense_Mutation_p.S312P|TAB2_ENST00000286332.5_Missense_Mutation_p.S344P|TAB2_ENST00000392282.1_Missense_Mutation_p.S344P Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 344 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ACTGCGTTCTTCTGGACCTCG 0.423000 18 53 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123514580 123514580 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:123514580C>T ENST00000422452.2 - 32 8068 c.8005G>A c.(8005-8007)Gaa>Aaa p.E2669K STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2662K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTTCTTTGTTCCTTAGTCCAG 0.547000 21 127 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984922 117984922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:117984922C>T ENST00000356554.3 + 6 1660 c.925C>T c.(925-927)Cct>Tct p.P309S NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 309 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TACTGGGATTCCTTGGGCAAT 0.333000 6 86 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128643239 128643239 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128643239C>T ENST00000368227.3 - 3 806 c.440G>A c.(439-441)aGa>aAa p.R147K PTPRK_ENST00000368213.5_Missense_Mutation_p.R147K|PTPRK_ENST00000525459.1_Missense_Mutation_p.R147K|PTPRK_ENST00000368215.3_Missense_Mutation_p.R147K|PTPRK_ENST00000368207.3_Missense_Mutation_p.R147K|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R147K|PTPRK_ENST00000368226.4_Missense_Mutation_p.R147K|PTPRK_ENST00000532331.1_Missense_Mutation_p.R147K Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 147 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AAGCCAATCTCTACCCGTGAA 0.433000 9 58 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70650417 70650417 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:70650417C>T ENST00000260126.3 - 5 1987 c.1281G>A c.(1279-1281)agG>agA p.R427R SLCO5A1_ENST00000524945.1_Silent_p.R427R|SLCO5A1_ENST00000530307.1_Intron NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 427 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGCTTAAGATCCTGACAGCTG 0.348000 11 58 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70049347 70049347 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70049347C>T ENST00000370598.1 + 26 4231 c.3410C>T c.(3409-3411)tCa>tTa p.S1137L BAI3_ENST00000546190.1_Missense_Mutation_p.S101L|BAI3_ENST00000238918.8_Missense_Mutation_p.S343L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1137 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTGTTTGATTCATTGCAAGGC 0.443000 21 117 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152841599 152841599 + Nonsense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152841599T>A ENST00000367255.5 - 6 905 c.304A>T c.(304-306)Aga>Tga p.R102* SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R102*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R102*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.R102*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.R102*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R102*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R102*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.R102*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.R102* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 102 Actin-binding.|CH 1. 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) CTTACCTTTCTTCCTTCGAGG 0.443000 HNSCC(10;0.0054) 12 113 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34145358 34145358 + Silent SNP C C T rs139800295 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:34145358C>T ENST00000257829.3 + 10 1170 c.964C>T c.(964-966)Ctg>Ttg p.L322L NAT10_ENST00000531159.2_Silent_p.L250L|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 322 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCTCCATACTCTGTTTGAATT 0.353000 4 69 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221852 118221852 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:118221852G>A ENST00000402510.2 - 11 3340 c.3341C>T c.(3340-3342)tCt>tTt p.S1114F NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1114 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CTGCTCCTTAGAAATGTCCTC 0.483000 33 124 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772522 4772522 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:4772522C>T ENST00000378191.4 + 2 973 c.592C>T c.(592-594)Ccg>Tcg p.P198S AJAP1_ENST00000378190.3_Missense_Mutation_p.P198S NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 198 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CAACACATTTCCGGGCGTTTA 0.652000 7 20 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144508147 144508147 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:144508147C>T ENST00000367568.4 + 2 566 c.383C>T c.(382-384)tCg>tTg p.S128L NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 128 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GCGCGCATTTCGCGGGCGCAG 0.672000 Familial Hemophagocytic Lymphohistiocytosis 7 23 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352634 92352634 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:92352634T>C ENST00000276609.3 + 8 1120 c.881T>C c.(880-882)aTt>aCt p.I294T SLC26A7_ENST00000309536.2_Missense_Mutation_p.I294T|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I294T NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 294 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) TTCCACAGAATTCCCTCACCT 0.448000 4 66 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87179319 87179319 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87179319C>T ENST00000265724.3 - 14 1819 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K ABCB1_ENST00000543898.1_Missense_Mutation_p.E404K NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 468 ABC transporter 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) CCAATGATTTCCCGTAGAAAC 0.408000 8 104 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48370683 48370683 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48370683G>A ENST00000395702.2 + 2 378 c.151G>A c.(151-153)Gag>Aag p.E51K ZNF488_ENST00000586537.1_5'UTR|ZNF488_ENST00000494156.1_Missense_Mutation_p.E51K Q96MN9 ZN488_HUMAN zinc finger protein 488 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 AGTGCTGCTCGAGAAGACGAA 0.677000 7 87 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10254580 10254580 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:10254580G>A ENST00000340748.4 - 28 3165 c.2930C>T c.(2929-2931)tCc>tTc p.S977F DNMT1_ENST00000359526.4_Missense_Mutation_p.S993F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S977F P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 977 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GATGTAGTCGGAGTATTTCCG 0.567000 22 245 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173503730 173503730 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173503730G>A ENST00000367714.3 - 16 2289 c.1867C>T c.(1867-1869)Cct>Tct p.P623S SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 623 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATTATCATAGGATAAATATAT 0.259000 5 26 0 0 1 0 0 AP4S1 11154 broad.mit.edu 37 14 31535417 31535417 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:31535417C>T ENST00000216366.4 + 2 223 c.15C>T c.(13-15)ttC>ttT p.F5F AP4S1_ENST00000334725.4_Silent_p.F5F|AP4S1_ENST00000542754.2_Silent_p.F5F|AP4S1_ENST00000554609.1_Silent_p.F5F|AP4S1_ENST00000554345.1_Silent_p.F5F|AP4S1_ENST00000313566.6_Silent_p.F5F NM_007077.4 NP_009008.2 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 subunit 5 coated pit|Golgi apparatus protein transporter activity lung(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) TAAAATTTTTCCTCATGGTGA 0.358000 13 93 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 169099049 169099049 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:169099049C>T ENST00000494292.1 - 2 398 c.301G>A c.(301-303)Gaa>Aaa p.E101K MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 101 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCACCTACTTCGATCTTCCTT 0.448000 17 107 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583576 7583576 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7583576A>G ENST00000379802.3 + 24 6422 c.6081A>G c.(6079-6081)gaA>gaG p.E2027E DSP_ENST00000418664.2_Silent_p.E1428E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2027 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCCTAAGGAAAAATACTCTT 0.468000 8 62 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683173 100683173 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100683173G>A ENST00000306151.4 + 3 8540 c.8476G>A c.(8476-8478)Gag>Aag p.E2826K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2826 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCAGTTCTGAGGCTGGCAC 0.488000 25 407 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493947 173493947 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173493947C>T ENST00000367714.3 - 20 2907 c.2485G>A c.(2485-2487)Gat>Aat p.D829N SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 829 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TCATGCTTATCAATAATGCCT 0.383000 7 77 0 0 1 0 0 TMEM50A 23585 broad.mit.edu 37 1 25679392 25679392 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:25679392C>T ENST00000374358.4 + 5 847 c.294C>T c.(292-294)ttC>ttT p.F98F TMEM50A_ENST00000480937.1_Intron NM_014313.3 NP_055128.1 O95807 TM50A_HUMAN transmembrane protein 50A 98 endoplasmic reticulum|integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) TTTGGCTTTTCGTTGGTTTCA 0.333000 13 66 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911629 107911629 + Missense_Mutation SNP G G A rs104886391 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107911629G>A ENST00000328300.6 + 41 3929 c.3685G>A c.(3685-3687)Ggt>Agt p.G1229S COL4A5_ENST00000361603.2_Missense_Mutation_p.G1229S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1229 Triple-helical region. G -> D (in APSX; adult type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGCTTTCACGGTTTCCCTGG 0.572000 Alport syndrome with Diffuse Leiomyomatosis 5 17 0 0 1 0 0 FAM86B2 653333 broad.mit.edu 37 8 12285145 12285145 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:12285145C>T ENST00000393715.3 - 3 463 c.229G>A c.(229-231)Ggg>Agg p.G77R FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000262365.4_Intron P0C5J1 F86B2_HUMAN family with sequence similarity 86, member B2 0 endometrium(1)|kidney(2) 3 CATGTAGGCCCGGGTGGGCGT 0.617000 11 74 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302035 128302035 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:128302035C>T ENST00000262462.4 + 1 1215 c.205C>T c.(205-207)Cgg>Tgg p.R69W SLC27A6_ENST00000395266.1_Missense_Mutation_p.R69W|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R69W Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 69 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AAGACAACCTCGGAAACCTTT 0.458000 8 75 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56473506 56473506 + Missense_Mutation SNP G G A rs148438060 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56473506G>A ENST00000291971.3 + 4 2187 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K NLRP8_ENST00000590542.1_Missense_Mutation_p.E706K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 706 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGATAAGCTGGAAGTCCTGAC 0.512000 12 99 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40359932 40359932 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:40359932C>T ENST00000338305.6 - 3 2662 c.2120G>A c.(2119-2121)aGg>aAg p.R707K NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 707 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GAGCAGGCTCCTGGCCCGGGC 0.736000 3 12 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84205903 84205903 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84205903C>T ENST00000378553.5 + 9 1690 c.1566C>T c.(1564-1566)ttC>ttT p.F522F DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 522 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding p.F522F(1) NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGGGTGTATTCGTTACAGAAC 0.448000 3 33 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40541067 40541067 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:40541067G>A ENST00000434248.1 - 5 1764 c.1699C>T c.(1699-1701)Cgt>Tgt p.R567C ZNF780B_ENST00000221355.6_Missense_Mutation_p.R419C NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAACCACGACGAAAGAATTTC 0.398000 4 108 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94039067 94039067 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:94039067C>T ENST00000297268.6 + 19 1440 c.969C>T c.(967-969)ctC>ctT p.L323L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 323 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTCCCGGCCTCCCTGGACCCC 0.582000 HNSCC(75;0.22) 5 75 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47099222 47099222 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:47099222G>A ENST00000377107.2 + 4 805 c.451G>A c.(451-453)Gtg>Atg p.V151M USP11_ENST00000218348.3_Missense_Mutation_p.V194M P51784 UBP11_HUMAN ubiquitin specific peptidase 11 194 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GAAGGTCGAAGTGTACCCAGT 0.498000 17 31 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35644078 35644078 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:35644078C>T ENST00000540320.1 + 9 1807 c.1273C>T c.(1273-1275)Cat>Tat p.H425Y NBEA_ENST00000310336.4_Missense_Mutation_p.H425Y|NBEA_ENST00000400445.3_Missense_Mutation_p.H425Y|NBEA_ENST00000379939.2_Missense_Mutation_p.H425Y Q8NFP9 NBEA_HUMAN neurobeachin 425 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GAGTGATATTCATTTGGCAGA 0.343000 6 17 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9032419 9032419 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:9032419C>T ENST00000383836.3 - 21 3090 c.2663G>A c.(2662-2664)cGg>cAg p.R888Q SRGAP3_ENST00000360413.3_Missense_Mutation_p.R864Q NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 888 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGCAGCAGCCCGGGGTGGTGT 0.701000 T RAF1 pilocytic astrocytoma 7 18 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175066578 175066578 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175066578G>A ENST00000239462.4 + 8 1727 c.1614G>A c.(1612-1614)gtG>gtA p.V538V NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 538 Fibronectin type-III 4. 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) CAAACCTGGTGACTGACCGGG 0.507000 6 26 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82937378 82937378 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:82937378G>A ENST00000274341.4 - 5 1852 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 334 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GGAAACCCACGAAGCGCACTG 0.522000 29 105 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307474 37307474 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:37307474A>G ENST00000373091.3 - 10 1409 c.1393T>C c.(1393-1395)Tac>Cac p.Y465H GRIK3_ENST00000373093.4_Missense_Mutation_p.Y465H NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 465 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TCGATGCAGTAGCCCTCGAAC 0.572000 41 135 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399091 179399091 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179399091A>G ENST00000589042.1 - 358 102475 c.102251T>C c.(102250-102252)gTt>gCt p.V34084A TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V25019A|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V25144A|TTN_ENST00000591111.1_Missense_Mutation_p.V32443A|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V25211A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V31516A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32443 Ig-like 151. 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) TGTTCTGATAACTTTAGTACT 0.473000 7 65 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217908 244217908 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:244217908C>T ENST00000358704.4 + 2 981 c.832C>T c.(832-834)Ctg>Ttg p.L278L NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 GAGAAGCAACCTGGTGCAGGT 0.468000 8 60 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74103141 74103141 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:74103141G>A ENST00000338820.3 - 3 691 c.542C>T c.(541-543)gCc>gTc p.A181V DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000444643.2_Missense_Mutation_p.A147V|DNAJB12_ENST00000394903.2_Missense_Mutation_p.A181V NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 147 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 GGCTTCAGTGGCACCAGGTGC 0.567000 3 12 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26527522 26527522 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:26527522G>A ENST00000456354.2 + 8 1256 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 397 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GATCCGAGATGAACTCAACAT 0.552000 16 68 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5465062 5465062 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:5465062C>T ENST00000296564.7 + 13 5837 c.5615C>T c.(5614-5616)cCa>cTa p.P1872L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1872 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAAAACCTCCCAGGGAACCTC 0.502000 8 18 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132681737 132681737 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:132681737G>A ENST00000328957.8 - 11 1726 c.1727C>T c.(1726-1728)gCc>gTc p.A576V GALNT9_ENST00000535228.1_Missense_Mutation_p.A327V|GALNT9_ENST00000397325.2_Missense_Mutation_p.A210V|GALNT9_ENST00000541995.1_Missense_Mutation_p.A210V NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) 576 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CCCAAAGTTGGCATCTTTGGA 0.632000 13 56 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084427 248084427 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248084427C>T ENST00000319968.4 + 1 108 c.108C>T c.(106-108)tcC>tcT p.S36S NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 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) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTTTGACCTCCCTGTTTGGCA 0.498000 10 53 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233350 43233350 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43233350C>T ENST00000327495.5 - 5 1352 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R PSG3_ENST00000595140.1_Missense_Mutation_p.G390R NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 390 Ig-like C2-type 3. defense response|female pregnancy extracellular region p.G390W(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCATAGAGCCCGCTATGCTTT 0.468000 16 259 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80623100 80623100 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:80623100T>A ENST00000458043.2 + 7 532 c.526T>A c.(526-528)Ttt>Att p.F176I OTOGL_ENST00000547103.1_Missense_Mutation_p.F176I NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAGCTTGTTCTTTTCAAACCA 0.358000 8 66 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70416268 70416268 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:70416268C>T ENST00000327305.6 - 10 2254 c.1597G>A c.(1597-1599)Gtc>Atc p.V533I NETO1_ENST00000583169.1_Missense_Mutation_p.V533I|NETO1_ENST00000299430.2_Missense_Mutation_p.V532I NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 533 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCTTTCTAGACCCTAGTTGTG 0.378000 10 55 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279168 47279168 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47279168G>A ENST00000271153.4 + 5 546 c.510G>A c.(508-510)gaG>gaA p.E170E CYP4B1_ENST00000371923.4_Silent_p.E170E|CYP4B1_ENST00000452782.2_Silent_p.E7E|CYP4B1_ENST00000371919.4_Silent_p.E155E P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 170 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGTGGGAAGAGAAAGCTCGGG 0.577000 7 36 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632707 158632707 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158632707G>A ENST00000368148.3 - 17 2429 c.2249C>T c.(2248-2250)gCt>gTt p.A750V SPTA1_ENST00000368147.3_Missense_Mutation_p.A750V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 750 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AAAATATGCAGCCAGGTCTGT 0.433000 11 42 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62984929 62984929 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:62984929G>A ENST00000403374.2 - 5 492 c.189C>T c.(187-189)ttC>ttT p.F63F SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.F229F|SLC22A10_ENST00000525620.1_Intron Q6T423 S22AP_HUMAN solute carrier family 22, member 25 229 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CCATGGCACAGAATTGGTGAG 0.423000 9 47 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39734772 39734772 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:39734772T>C ENST00000395670.3 - 15 2465 c.2046A>G c.(2044-2046)ctA>ctG p.L682L KIF21A_ENST00000361418.5_Silent_p.L682L|KIF21A_ENST00000361961.3_Silent_p.L669L|KIF21A_ENST00000544797.2_Silent_p.L669L|KIF21A_ENST00000541463.2_Silent_p.L669L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 682 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GCAGCATCATTAGCTTCTCTT 0.348000 9 23 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109773785 109773785 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:109773785G>A ENST00000368952.4 - 5 952 c.662C>T c.(661-663)cCc>cTc p.P221L MICAL1_ENST00000358807.3_Missense_Mutation_p.P202L|MICAL1_ENST00000358577.3_Missense_Mutation_p.P202L Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 202 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTGGGCAGGGGGGTTGGGTTG 0.552000 5 26 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919343 130919343 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:130919343G>A ENST00000261655.4 - 11 2301 c.2138C>T c.(2137-2139)cCa>cTa p.P713L RIMBP2_ENST00000535703.1_Missense_Mutation_p.P621L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P621L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 713 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CTTGAAGTCTGGAGAGTCATA 0.592000 15 112 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338393 103338393 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103338393G>A ENST00000424685.2 - 10 1209 c.1050C>T c.(1048-1050)atC>atT p.I350I RELN_ENST00000428762.1_Silent_p.I350I|RELN_ENST00000343529.5_Silent_p.I350I P78509 RELN_HUMAN reelin 350 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAATTGATGATCAAGATGT 0.463000 14 108 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86839375 86839375 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:86839375G>A ENST00000237455.4 - 3 1357 c.389C>T c.(388-390)cCc>cTc p.P130L AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 130 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GCCCACCAAGGGACTTCTGTC 0.373000 8 52 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19442124 19442124 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:19442124G>A ENST00000375267.2 - 74 10834 c.10831C>T c.(10831-10833)Cgc>Tgc p.R3611C UBR4_ENST00000375254.3_Missense_Mutation_p.R3611C|UBR4_ENST00000375217.2_Missense_Mutation_p.R3604C|UBR4_ENST00000375226.2_Missense_Mutation_p.R3587C|UBR4_ENST00000375218.3_Missense_Mutation_p.R26C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3611 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.R3611C(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTGCCAGCGAGCTGGCCTA 0.483000 32 129 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37543403 37543403 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:37543403C>A ENST00000379066.1 - 2 1027 c.265G>T c.(265-267)Gtg>Ttg p.V89L PRKD3_ENST00000234179.2_Missense_Mutation_p.V89L O94806 KPCD3_HUMAN protein kinase D3 89 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) ATGGAGCACACAAGATCCTTG 0.383000 19 137 1.96292e-10 1.9854e-10 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13793757 13793757 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13793757G>A ENST00000265104.4 - 49 8195 c.8091C>T c.(8089-8091)atC>atT p.I2697I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2697 AAA 3 (By similarity). 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) GGATGTCCACGATGCTGGTGA 0.448000 Kartagener syndrome 5 83 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399747 179399747 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179399747G>A ENST00000589042.1 - 358 101819 c.101595C>T c.(101593-101595)tcC>tcT p.S33865S TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Silent_p.S24800S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.S24925S|TTN_ENST00000591111.1_Silent_p.S32224S|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.S24992S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Silent_p.S31297S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32224 Ig-like 149. 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) TATTCAGAATGGAAATTTCCT 0.353000 12 72 0 0 1 0 0 APOBEC3F 200316 broad.mit.edu 37 22 39439041 39439041 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:39439041G>A ENST00000308521.5 + 2 474 c.117G>A c.(115-117)gtG>gtA p.V39V APOBEC3F_ENST00000381565.2_Silent_p.V39V|APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR NM_145298.5 NP_660341.2 Q9HC16 ABC3G_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 39 base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) GCTACGAAGTGAAAACAAAGG 0.502000 3 22 0 0 1 0 0 CTAGE6 340307 broad.mit.edu 37 7 143453526 143453526 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143453526C>T ENST00000470691.2 - 1 1263 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) TTCCTCTATTCGGTAATTTTC 0.373000 13 147 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685174 44685174 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:44685174G>A ENST00000454036.1 + 23 3226 c.3150G>A c.(3148-3150)gaG>gaA p.E1050E SLC12A5_ENST00000243964.3_Silent_p.E1027E NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1050 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TCTCCTCTGAGGGCATCAAGG 0.602000 8 34 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104048 53104048 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:53104048C>T ENST00000408890.4 + 1 700 c.684C>T c.(682-684)tcC>tcT p.S228S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 228 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGGTTGCTTCCTTCGTGCCCA 0.637000 7 78 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154069 5154069 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:5154069C>T ENST00000252321.3 + 1 985 c.756C>T c.(754-756)atC>atT p.I252I NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 252 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CGCGGGCCATCGCCATCGTCT 0.587000 13 158 0 0 1 0 0 CALHM1 255022 broad.mit.edu 37 10 105215117 105215117 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:105215117G>A ENST00000329905.5 - 2 1079 c.943C>T c.(943-945)Ctg>Ttg p.L315L RP11-225H22.4_ENST00000411906.1_RNA NM_001001412.3 NP_001001412.3 Q8IU99 CAHM1_HUMAN calcium homeostasis modulator 1 315 endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel activity|identical protein binding large_intestine(2)|liver(1)|lung(5)|ovary(1) 9 TCCTGGCCCAGCCGCAGAGGC 0.647000 4 37 0 0 1 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29957506 29957506 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:29957506A>G ENST00000216121.7 - 6 822 c.568T>C c.(568-570)Tac>Cac p.Y190H NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 190 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 TTGAGCTTGTATGTCCTCAGC 0.577000 26 91 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158236 139158236 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:139158236C>T ENST00000395297.1 - 15 3676 c.3506G>A c.(3505-3507)gGa>gAa p.G1169E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1169 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCCAGTTTTCCTCCAGGGAG 0.453000 HNSCC(54;0.14) 13 49 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14029259 14029259 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:14029259G>A ENST00000311895.7 + 8 1479 c.1470G>A c.(1468-1470)cgG>cgA p.R490R CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 490 R -> Q (in XP-F). double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AGAAAAAACGGAAGTTGACCT 0.408000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 39 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551666 1551666 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:1551666C>T ENST00000381605.4 - 4 933 c.869G>A c.(868-870)gGa>gAa p.G290E RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 290 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGACACATTTCCATTCTCCAA 0.552000 17 85 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 362274 362274 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:362274G>A ENST00000342640.4 - 8 1108 c.1066C>T c.(1066-1068)Ccc>Tcc p.P356S THEG_ENST00000346878.2_Missense_Mutation_p.P332S NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 356 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GAGGCGAGGGGACGCCTGTCG 0.602000 8 114 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186081 101186081 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:101186081G>A ENST00000294728.2 + 2 215 c.114G>A c.(112-114)caG>caA p.Q38Q VCAM1_ENST00000370115.1_Silent_p.Q38Q|VCAM1_ENST00000347652.2_Silent_p.Q38Q|VCAM1_ENST00000370119.4_Silent_p.Q38Q NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 38 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATCTTGCTCAGATTGGTGACT 0.433000 21 75 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4536766 4536766 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:4536766C>T ENST00000570836.1 - 10 1287 c.1191G>A c.(1189-1191)ctG>ctA p.L397L ALOX15_ENST00000574640.1_Silent_p.L358L|ALOX15_ENST00000545513.1_Silent_p.L419L|ALOX15_ENST00000293761.3_Silent_p.L397L P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 397 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CGTTAATTTCCAGGGTGTATC 0.522000 20 84 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2967740 2967740 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:2967740C>T ENST00000520002.1 - 44 7106 c.6551G>A c.(6550-6552)gGa>gAa p.G2184E CSMD1_ENST00000602723.1_Missense_Mutation_p.G2184E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2183E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2184E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2183E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2184E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2184 CUB 13. 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) GATGTAAACTCCGTGCCCTGG 0.468000 3 13 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960341 73960341 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73960341G>A ENST00000373468.1 - 3 4702 c.4051C>T c.(4051-4053)Ccc>Tcc p.P1351S KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1351S Q5QGS0 K2022_HUMAN KIAA2022 1351 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AATATGTTGGGATCCCCATGG 0.458000 17 30 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181689390 181689390 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:181689390G>A ENST00000526775.1 + 14 1965 c.1800G>A c.(1798-1800)atG>atA p.M600I CACNA1E_ENST00000367567.4_Missense_Mutation_p.M207I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M551I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M551I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.M600I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.M600I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M600I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 600 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 TGAGCTCAATGAAGTCTATCA 0.468000 5 32 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13621514 13621514 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:13621514C>T ENST00000361306.1 + 5 736 c.479C>T c.(478-480)tCc>tTc p.S160F EGFL6_ENST00000380602.3_Missense_Mutation_p.S160F NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 160 EGF-like 3. cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CTGTGTCCATCCTCAGGACTC 0.498000 8 28 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:20683155C>T ENST00000404938.2 + 7 1230 c.578C>T c.(577-579)tCg>tTg p.S193L NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 379 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 p.S193L(1)|p.S193*(1) 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 TCTACTTTTTCGATTGGCCTG 0.423000 7 81 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 110222993 110222993 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:110222993C>T ENST00000399132.1 - 2 713 c.183G>A c.(181-183)gcG>gcA p.A61A COL25A1_ENST00000399126.1_Silent_p.A61A|COL25A1_ENST00000399127.1_Silent_p.A61A NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 61 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CGGCGATCCTCGCCTGGAGGT 0.617000 15 94 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132036382 132036382 + Nonsense_Mutation SNP C C T rs149109145 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:132036382C>T ENST00000336375.5 + 1 172 c.82C>T c.(82-84)Cga>Tga p.R28* ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R28*|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R28* NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 28 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CTGGCTAGACCGAAGTGTACT 0.463000 6 26 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866047 139866047 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:139866047C>T ENST00000370532.2 - 1 676 c.485G>A c.(484-486)aGa>aAa p.R162K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 162 6 X 6 AA approximate repeats. p.R162I(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CAATCCAAGTCTTCCGGATAA 0.448000 34 147 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50209533 50209533 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50209533G>A ENST00000392518.4 + 12 1578 c.1206G>A c.(1204-1206)gcG>gcA p.A402A CPT1C_ENST00000598293.1_Silent_p.A402A|CPT1C_ENST00000405931.2_Silent_p.A391A|CPT1C_ENST00000323446.5_Silent_p.A402A|CPT1C_ENST00000354199.5_Silent_p.A402A NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 402 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CCCAGGCAGCGGAGGCCCTGG 0.701000 5 14 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104116472 104116472 + Missense_Mutation SNP C C T rs140826288 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104116472C>T ENST00000361355.4 + 6 1272 c.656C>T c.(655-657)cCt>cTt p.P219L AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 219 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CACATGTGGCCTGGAGACATA 0.413000 46 371 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247618 56247618 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:56247618C>T ENST00000545221.1 + 1 602 c.602C>T c.(601-603)tCc>tTc p.S201F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CTCAAGATCTCCAACAGTGGG 0.512000 22 62 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 166958682 166958682 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:166958682G>A ENST00000392766.2 - 21 2642 c.2302C>T c.(2302-2304)Cag>Tag p.Q768* ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q768*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q807*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q807*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q739* NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 768 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AGCAAAGACTGAATTTTGGTA 0.378000 12 66 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592428 38592428 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:38592428G>A ENST00000413689.1 - 28 5628 c.5435C>T c.(5434-5436)tCg>tTg p.S1812L SCN5A_ENST00000425664.1_Missense_Mutation_p.S1794L|SCN5A_ENST00000333535.4_Missense_Mutation_p.S1812L|SCN5A_ENST00000414099.2_Missense_Mutation_p.S1794L|SCN5A_ENST00000455624.2_Missense_Mutation_p.S1779L|SCN5A_ENST00000450102.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000449557.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000443581.1_Missense_Mutation_p.S1811L|SCN5A_ENST00000451551.2_Missense_Mutation_p.S1758L|SCN5A_ENST00000423572.2_Missense_Mutation_p.S1811L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1812 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGACAGGACCGAATACTCAAT 0.537000 7 43 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121966960 121966960 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:121966960G>A ENST00000379692.4 - 2 559 c.33C>T c.(31-33)ctC>ctT p.L11L NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 11 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GTGGAAACAGGAGCCACAGCA 0.502000 3 34 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364552 29364552 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29364552T>A ENST00000383555.2 + 1 137 c.76T>A c.(76-78)Ttc>Atc p.F26I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 GCCTTTTCTCTTCGTGGTTTT 0.428000 28 130 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027575 161027575 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161027575C>T ENST00000447678.1 - 18 2839 c.2719G>A c.(2719-2721)Gaa>Aaa p.E907K LPA_ENST00000316300.5_Missense_Mutation_p.E907K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3415 Kringle 8. 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) GCAGTCCCTTCTGCGTCTGAG 0.542000 21 134 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47299718 47299718 + Silent SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:47299718G>T ENST00000342922.4 + 6 1455 c.1098G>T c.(1096-1098)ctG>ctT p.L366L MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Silent_p.L366L|MADD_ENST00000406482.1_Silent_p.L366L|MADD_ENST00000395336.3_Silent_p.L366L|MADD_ENST00000395344.3_Silent_p.L366L|MADD_ENST00000407859.3_Silent_p.L366L|MADD_ENST00000349238.3_Silent_p.L366L|MADD_ENST00000402192.2_Silent_p.L366L|MADD_ENST00000402799.1_Silent_p.L366L NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 366 DENN. 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) TTCCACAGCTGCTGTTGGCTC 0.433000 20 157 2.70639e-06 2.72986e-06 1 1 0 KCNMA1 3778 broad.mit.edu 37 10 78870098 78870098 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:78870098C>T ENST00000286627.5 - 8 1916 c.964G>A c.(964-966)Gag>Aag p.E322K KCNMA1_ENST00000404857.1_Missense_Mutation_p.E322K|KCNMA1_ENST00000286628.8_Missense_Mutation_p.E322K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E322K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E322K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E322K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.E322K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E322K NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 322 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CCTGAATTCTCCACCTAAAGC 0.453000 19 185 0 0 1 0 0 FGL1 2267 broad.mit.edu 37 8 17731949 17731949 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:17731949G>A ENST00000398056.2 - 6 1141 c.326C>T c.(325-327)tCt>tTt p.S109F FGL1_ENST00000522444.1_Missense_Mutation_p.S109F|FGL1_ENST00000427924.1_Missense_Mutation_p.S109F|FGL1_ENST00000518650.1_Missense_Mutation_p.S109F|FGL1_ENST00000381840.2_Missense_Mutation_p.S109F|FGL1_ENST00000398054.1_Missense_Mutation_p.S109F|FGL1_ENST00000381841.2_Missense_Mutation_p.S109F Q08830 FGL1_HUMAN fibrinogen-like 1 109 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) ACAATAAACAGAAAATTCTGC 0.378000 6 78 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105937241 105937241 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105937241G>A ENST00000324342.3 + 1 174 c.9G>A c.(7-9)caG>caA p.Q3Q NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CAATGAACCAGGAGAATAGGT 0.353000 4 19 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71872432 71872432 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:71872432C>T ENST00000373545.3 - 12 1645 c.1207G>A c.(1207-1209)Ggt>Agt p.G403S PHKA1_ENST00000373539.3_Missense_Mutation_p.G403S|PHKA1_ENST00000373542.4_Missense_Mutation_p.G403S|PHKA1_ENST00000541944.1_Missense_Mutation_p.G403S|PHKA1_ENST00000339490.3_Missense_Mutation_p.G403S P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 403 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AGAGACTGACCCCACATGTGA 0.443000 11 12 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23428990 23428990 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:23428990C>T ENST00000519973.1 + 4 837 c.639C>T c.(637-639)tcC>tcT p.S213S NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 213 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CCTTCCAGTCCATCCACTTCA 0.627000 17 43 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53233127 53233127 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53233127C>T ENST00000359499.4 - 9 1014 c.1003G>A c.(1003-1005)Gga>Aga p.G335R KRT78_ENST00000304620.4_Missense_Mutation_p.G445R Q8N1N4 K2C78_HUMAN keratin 78 445 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCAACTCCTCCAGACATGACA 0.612000 3 22 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227872792 227872792 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:227872792G>A ENST00000396625.3 - 47 4958 c.4751C>T c.(4750-4752)tCc>tTc p.S1584F COL4A4_ENST00000329662.7_Missense_Mutation_p.S1581F NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1584 Collagen IV NC1. 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) TGGGGGGATGGACTGGTCCTG 0.617000 4 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179595880 179595880 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179595880C>T ENST00000589042.1 - 60 17736 c.17512G>A c.(17512-17514)Gac>Aac p.D5838N TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5521N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4594N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5521 Ig-like 39. 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) GTGGCTGGGTCTCCTTGGGTG 0.438000 22 156 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364110 5364110 + Silent SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5364110G>T ENST00000300773.2 - 1 699 c.645C>A c.(643-645)tcC>tcA p.S215S HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAACACATAGGAGATGAAGA 0.463000 7 112 2.0095e-06 2.02735e-06 1 1 0 XDH 7498 broad.mit.edu 37 2 31637491 31637491 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:31637491C>T ENST00000379416.3 - 1 90 c.42_splice c.e1+1 p.K14_splice NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 14 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCCTACTTACCTTTCTGCCAT 0.507000 11 139 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85961661 85961661 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:85961661C>T ENST00000372117.3 + 7 727 c.624C>T c.(622-624)atC>atT p.I208I CDHR1_ENST00000332904.3_Silent_p.I208I|CDHR1_ENST00000440770.2_5'UTR NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 208 Cadherin 2. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CCCACTACATCACCGTGGTCG 0.617000 6 20 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423185 56423185 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56423185C>T ENST00000588751.1 - 5 2022 c.1998G>A c.(1996-1998)ttG>ttA p.L666L NLRP13_ENST00000342929.3_Silent_p.L666L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 666 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTTCGTCCTCCAAAATATTAA 0.408000 14 125 0 0 1 0 0 OR10H4 126541 broad.mit.edu 37 19 16060228 16060228 + Missense_Mutation SNP G G A rs150172076 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:16060228G>A ENST00000322107.1 + 1 411 c.411G>A c.(409-411)atG>atA p.M137I NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 ATGTGCTCATGAGCCCCCGTG 0.537000 13 123 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34091495 34091495 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:34091495C>T ENST00000297161.2 + 9 1073 c.699C>T c.(697-699)ctC>ctT p.L233L BMPER_ENST00000426693.1_Silent_p.L233L|BMPER_ENST00000494786.1_3'UTR NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 233 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 TGTTTGACCTCCCTTTTGGGA 0.458000 13 67 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55208504 55208504 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:55208504C>A ENST00000201031.2 + 4 925 c.682C>A c.(682-684)Cct>Act p.P228T TFAP2C_ENST00000544508.1_Missense_Mutation_p.P59T NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 228 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) CTGCTCAGTCCCTGGAAGATT 0.532000 5 76 0.014758 0.0147921 1 1 0 OPTN 10133 broad.mit.edu 37 10 13167428 13167428 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:13167428C>T ENST00000378748.3 + 11 1371 c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F OPTN_ENST00000378764.2_Missense_Mutation_p.L331F|OPTN_ENST00000378752.3_Missense_Mutation_p.L331F|OPTN_ENST00000378757.2_Missense_Mutation_p.L337F|OPTN_ENST00000263036.5_Missense_Mutation_p.L337F|OPTN_ENST00000378747.3_Missense_Mutation_p.L337F NM_001008211.1|NM_001008213.1 NP_001008212.1|NP_001008214.1 Q96CV9 OPTN_HUMAN optineurin 337 cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GTGTCAGGCCCTTGAAAGGAA 0.373000 6 61 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248917 20248917 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20248917G>A ENST00000315957.4 + 1 517 c.436G>A c.(436-438)Gct>Act p.A146T NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATCCTGGTGGCTCTCTCCTG 0.502000 16 402 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600810 29600810 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:29600810G>A ENST00000431530.3 + 1 2063 c.2005G>A c.(2005-2007)Gac>Aac p.D669N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 659 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGGCCAGGTGGACGCCTCGCT 0.587000 9 21 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119876 142119876 + RNA SNP C C T rs143496004 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142119876C>T ENST00000390377.1 - 0 290 TGCGCTGAATCGTCAGAGTGG 0.537000 4 78 0 0 1 0 0 UTS2 10911 broad.mit.edu 37 1 7912983 7912983 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:7912983C>T ENST00000054668.5 - 2 125 c.125_splice c.e2-1 p.L42_splice UTS2_ENST00000361696.5_Silent_p.R27R|UTS2_ENST00000377516.2_Silent_p.R27R NM_021995.2 NP_068835.1 O95399 UTS2_HUMAN urotensin 2 27 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) AGGATATTTCCCTGGAGTCAA 0.378000 9 115 0 0 1 0 0 DRGX 644168 broad.mit.edu 37 10 50574211 50574211 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50574211C>T ENST00000374139.2 - 6 752 c.742G>A c.(742-744)Gaa>Aaa p.E248K DRGX_ENST00000434016.1_Missense_Mutation_p.E253K C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 253 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GAGGTCTTTTCCTGGCTGCCA 0.672000 16 79 0 0 1 0 0 C8orf47 203111 broad.mit.edu 37 8 99102183 99102183 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:99102183G>A ENST00000318528.3 + 2 1297 c.938G>A c.(937-939)cGa>cAa p.R313Q C8orf47_ENST00000545282.1_Intron NM_173549.2 NP_775820.2 Q6P6B1 CH047_HUMAN chromosome 8 open reading frame 47 313 Glu-rich. p.R313Q(2) kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CATCCAGCACGAAATGTAGAG 0.438000 8 67 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34150116 34150116 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:34150116G>A ENST00000389232.4 + 99 14212 c.e99+1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 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) CATGATGACGGTGAGAGCCCA 0.582000 8 25 0 0 1 0 0 TMEM182 130827 broad.mit.edu 37 2 103378691 103378691 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103378691C>T ENST00000412401.2 + 1 220 c.15C>T c.(13-15)atC>atT p.I5I TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 5 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 GACTAAATATCGCTATCTTCT 0.358000 8 27 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58639467 58639467 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:58639467G>A ENST00000598312.1 - 4 1637 c.1404C>T c.(1402-1404)tcC>tcT p.S468S ZNF329_ENST00000358067.4_Silent_p.S468S NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S468S(1) NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TGGTCAGACAGGAGCTGTCCC 0.498000 7 72 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50954832 50954832 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50954832C>T ENST00000374103.4 - 10 1345 c.1260G>A c.(1258-1260)acG>acA p.T420T OGDHL_ENST00000419399.1_Silent_p.T363T|OGDHL_ENST00000432695.1_Silent_p.T211T NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 420 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TACCATTGGTCGTGTAGGAGG 0.607000 5 45 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126746118 126746118 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:126746118C>T ENST00000274473.6 + 10 1222 c.955C>T c.(955-957)Ctc>Ttc p.L319F MEGF10_ENST00000508365.1_Missense_Mutation_p.L319F|MEGF10_ENST00000418761.2_Missense_Mutation_p.L319F|MEGF10_ENST00000503335.2_Missense_Mutation_p.L319F NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 319 EGF-like 6.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTATGGCGTTCTCTGTGCTGA 0.537000 4 30 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768239 31768239 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:31768239G>A ENST00000240587.4 - 2 2787 c.2460C>T c.(2458-2460)tcC>tcT p.S820S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 820 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTGTCACCGTGGATGAGGAGG 0.522000 4 57 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118997831 118997831 + Missense_Mutation SNP C C T rs150565427 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:118997831C>T ENST00000328252.3 + 7 3016 c.2647C>T c.(2647-2649)Ccc>Tcc p.P883S PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 883 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.P883S(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACAGTGTAAGCCCCTGAAGTA 0.512000 11 52 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614724 179614724 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179614724G>A ENST00000360870.5 - 46 12625 c.12403C>T c.(12403-12405)Cct>Tct p.P4135S TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3483 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) TGATCTTGAGGCATTGCTTTA 0.378000 11 43 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607406 84607406 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:84607406C>T ENST00000344803.2 + 4 2068 c.2021C>T c.(2020-2022)cCt>cTt p.P674L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCCATCATTCCTGGAGATTTT 0.498000 7 101 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160806044 160806044 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160806044C>T ENST00000368034.4 - 6 1012 c.834_splice c.e6-1 p.E279_splice CD244_ENST00000368032.2_Splice_Site_p.E279_splice|CD244_ENST00000322302.7_Splice_Site_p.E187_splice|CD244_ENST00000368033.3_Splice_Site_p.E284_splice|CD244_ENST00000481677.1_Intron NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 284 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGCTCCTGCTCCTGCACAAGA 0.493000 3 18 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119968707 119968707 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:119968707G>A ENST00000327554.2 + 13 1855 c.1390G>A c.(1390-1392)Gag>Aag p.E464K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 464 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CAAACTGCCAGAGGATCTAAA 0.493000 4 54 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181816 140181816 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140181816A>C ENST00000522353.2 + 1 1034 c.1034A>C c.(1033-1035)gAt>gCt p.D345A PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D345A NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACATCAATGATAATGTACCT 0.428000 7 59 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27056151 27056151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27056151C>T ENST00000324856.7 + 2 1518 c.1147C>T c.(1147-1149)Cca>Tca p.P383S ARID1A_ENST00000457599.2_Missense_Mutation_p.P383S|ARID1A_ENST00000374152.2_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 383 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCATCCAGTCCAATGGATCA 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 21 110 0 0 1 0 0 MKRN3 7681 broad.mit.edu 37 15 23811339 23811339 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:23811339C>T ENST00000314520.3 + 1 886 c.410C>T c.(409-411)gCc>gTc p.A137V MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 137 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) CCGCCTGGGGCCTCTGCAGGT 0.637000 5 52 0 0 1 0 0 RAD9B 144715 broad.mit.edu 37 12 110957715 110957715 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:110957715G>A ENST00000409246.1 + 9 993 c.668G>A c.(667-669)cGa>cAa p.R223Q RAD9B_ENST00000409425.1_Missense_Mutation_p.R223Q|RAD9B_ENST00000409778.3_Missense_Mutation_p.R226Q|RAD9B_ENST00000409300.1_Missense_Mutation_p.R295Q|RAD9B_ENST00000392672.4_Missense_Mutation_p.R295Q Q6WBX8 RAD9B_HUMAN RAD9 homolog B (S. pombe) 292 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 7 TCACAGAAACGAAAAAGGTAA 0.338000 4 11 0 0 1 0 0 TRBV6-7 28600 broad.mit.edu 37 7 142144045 142144045 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142144045G>A ENST00000390373.2 - 0 39 CCTGCCCACAGGAGAGAAAAG 0.607000 8 159 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736238 7736238 + Missense_Mutation SNP C C T rs144664374 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7736238C>T ENST00000572933.1 + 84 14430 c.12970C>T c.(12970-12972)Ccc>Tcc p.P4324S DNAH2_ENST00000389173.2_Missense_Mutation_p.P4324S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4324 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTAGTGTATCCCCCCAAGGT 0.542000 47 156 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211436 78211436 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:78211436C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA AGCATCTCCTCCTGCTCTCGG 0.567000 31 147 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35640208 35640208 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:35640208G>A ENST00000353139.5 - 5 1051 c.570C>T c.(568-570)ttC>ttT p.F190F ACACA_ENST00000360679.3_Silent_p.F95F|ACACA_ENST00000394406.2_Silent_p.F153F|ACACA_ENST00000335166.5_Silent_p.F75F NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 153 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCATGACAACGAATCTAATTG 0.413000 4 40 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73163756 73163756 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:73163756C>T ENST00000545377.1 + 19 2384 c.2208C>T c.(2206-2208)tcC>tcT p.S736S ARHGEF28_ENST00000296799.4_Silent_p.S423S|ARHGEF28_ENST00000513042.2_Silent_p.S736S|ARHGEF28_ENST00000426542.2_Silent_p.S736S|ARHGEF28_ENST00000437974.1_Silent_p.S736S|ARHGEF28_ENST00000287898.5_Silent_p.S736S|ARHGEF28_ENST00000296794.6_Silent_p.S736S NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CTTCTTCCTCCGTGCCTGTTG 0.512000 5 32 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4422787 4422787 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4422787C>T ENST00000301280.5 + 5 1343 c.1242C>T c.(1240-1242)gcC>gcT p.A414A NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 414 Arg/Glu/Lys-rich. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GACAGGAAGCCCTGGAGTGAG 0.612000 Chromatin Structure 4 40 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61932753 61932753 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61932753C>T ENST00000280772.1 - 20 2478 c.2287G>A c.(2287-2289)Ggg>Agg p.G763R ANK3_ENST00000373827.2_Missense_Mutation_p.G757R|ANK3_ENST00000503366.1_Missense_Mutation_p.G746R NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 763 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGCGTATACCCATTCTGTAGA 0.398000 3 35 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836735 23836735 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:23836735G>A ENST00000359788.4 - 4 1168 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 334 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TCTCCAGTATGAATTCTCTTA 0.368000 6 39 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209780 10209780 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10209780T>C ENST00000418404.3 - 36 5625 c.5462A>G c.(5461-5463)aAc>aGc p.N1821S MYH13_ENST00000570743.1_Missense_Mutation_p.N1821S|MYH13_ENST00000252172.4_Missense_Mutation_p.N1821S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1821 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTCTACCCGGTTCTCCAGTTT 0.522000 35 142 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55148452 55148452 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55148452C>T ENST00000414150.2 + 14 2783 c.2505C>T c.(2503-2505)tcC>tcT p.S835S MROH7_ENST00000339553.5_Silent_p.S835S|MROH7_ENST00000409996.1_Silent_p.S403S|MROH7_ENST00000395690.2_Silent_p.S835S|MROH7_ENST00000421030.2_Silent_p.S835S|MROH7_ENST00000545244.1_Silent_p.S403S|MROH7_ENST00000454855.2_Silent_p.S353S maestro heat-like repeat family member 7 GCCGGGCTTCCATCGTGCCCC 0.632000 8 37 0 0 1 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 8 111 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8670788 8670788 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:8670788G>A ENST00000299665.2 + 3 343 c.150G>A c.(148-150)aaG>aaA p.K50K NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 50 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) CACGCTGTAAGAGAGGCACAG 0.398000 3 16 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138442337 138442337 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:138442337C>T ENST00000344876.4 - 4 3640 c.3254G>A c.(3253-3255)tGg>tAg p.W1085* PCDH18_ENST00000511115.1_Nonsense_Mutation_p.W265*|PCDH18_ENST00000510305.1_Nonsense_Mutation_p.W296*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.W1084*|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.W864* NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1085 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGCTGGCAGCCATTTTGAAGA 0.512000 4 28 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410050 130410050 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130410050G>A ENST00000370904.1 - 21 3664 c.2754C>T c.(2752-2754)ttC>ttT p.F918F IGSF1_ENST00000361420.3_Silent_p.F927F|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Silent_p.F932F|IGSF1_ENST00000370910.1_Silent_p.F918F Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 927 Ig-like C2-type 9. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TGTGGAGAAGGAAGTCAGCTG 0.522000 16 39 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28883641 28883641 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:28883641C>T ENST00000337120.5 + 6 4935 c.1644C>T c.(1642-1644)tcC>tcT p.S548S SH2B1_ENST00000545570.1_Silent_p.S238S|SH2B1_ENST00000395532.4_Silent_p.S548S|SH2B1_ENST00000538342.1_Silent_p.S212S|SH2B1_ENST00000359285.5_Silent_p.S548S|SH2B1_ENST00000322610.8_Silent_p.S548S|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 548 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GCACTGGCTCCCACGGTGTCT 0.627000 7 51 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481812 38481812 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38481812G>A ENST00000263409.4 - 20 3341 c.3179C>T c.(3178-3180)cCa>cTa p.P1060L LIFR_ENST00000453190.2_Missense_Mutation_p.P1060L NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1060 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AATGGAGCATGGACTTCCAAA 0.408000 T PLAG1 salivary adenoma 10 129 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107408188 107408188 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107408188C>T ENST00000334504.7 - 39 4122 c.3889G>A c.(3889-3891)Gga>Aga p.G1297R COL4A6_ENST00000538570.1_Missense_Mutation_p.G1273R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1273R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1298R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1298R NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1298 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAGGAATTCCAGGGAAGCCA 0.617000 Alport syndrome with Diffuse Leiomyomatosis 13 20 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108152553 108152553 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:108152553C>T ENST00000370056.4 - 22 2289 c.2015_splice c.e22+1 p.W672_splice VAV3_ENST00000544443.1_Splice_Site_p.W76_splice|VAV3_ENST00000415432.2_Splice_Site_p.W112_splice|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Splice_Site_p.W672_splice NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 672 SH2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TAATACTTACCAGGGTTGGCA 0.348000 9 60 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227953439 227953439 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:227953439C>T ENST00000396625.3 - 22 1760 c.1553G>A c.(1552-1554)gGg>gAg p.G518E COL4A4_ENST00000329662.7_Missense_Mutation_p.G518E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 518 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) GCCAGGGAGCCCCAAGTCTCC 0.597000 11 102 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50893818 50893818 + Silent SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:50893818C>G ENST00000380817.2 - 33 4572 c.4389G>C c.(4387-4389)ctG>ctC p.L1463L SBF1_ENST00000390679.3_Silent_p.L1437L|SBF1_ENST00000348911.6_Silent_p.L1438L NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1437 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGTCTGAGAGCAGCTGCACCA 0.672000 8 55 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220936323 220936323 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:220936323G>A ENST00000366913.3 + 4 879 c.681G>A c.(679-681)atG>atA p.M227I MARC2_ENST00000359316.2_Missense_Mutation_p.M227I NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 227 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding ATACCAGGATGGAGAAGAAAA 0.498000 10 52 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716623 13716623 + Silent SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:13716623C>G ENST00000279593.3 - 13 3758 c.3549G>C c.(3547-3549)acG>acC p.T1183T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1183 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) GTTTGTCGCCCGTCCCGTGCT 0.617000 15 66 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38143911 38143911 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:38143911C>T ENST00000379747.4 - 20 2434 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K POSTN_ENST00000541179.1_Missense_Mutation_p.E746K|POSTN_ENST00000379743.4_Missense_Mutation_p.E746K|POSTN_ENST00000379749.4_Missense_Mutation_p.E773K|POSTN_ENST00000541481.1_Missense_Mutation_p.E686K|POSTN_ENST00000379742.4_Missense_Mutation_p.E716K|POSTN_ENST00000497145.1_5'UTR NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 773 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AGAGTTTCTTCTGTTTCTCCA 0.338000 5 53 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28878032 28878032 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:28878032C>T ENST00000337120.5 + 1 3908 c.617C>T c.(616-618)gCt>gTt p.A206V SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.A206V|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A206V|SH2B1_ENST00000322610.8_Missense_Mutation_p.A206V|SH2B1_ENST00000563674.1_Intron NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 206 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TCTGGCGGGGCTGGGACCGTT 0.652000 4 58 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76506982 76506982 + Missense_Mutation SNP C C T rs141065796 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76506982C>T ENST00000527881.1 + 2 1348 c.322C>T c.(322-324)Cgc>Tgc p.R108C TSKU_ENST00000333090.4_Missense_Mutation_p.R108C Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 108 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) CTCCCGCCTTCGCTACCTGGA 0.627000 9 40 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778752 111778752 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:111778752G>A ENST00000445067.2 + 9 1483 c.712G>A c.(712-714)Ggg>Agg p.G238R CHI3L2_ENST00000369748.4_Missense_Mutation_p.G238R|CHI3L2_ENST00000524472.1_Missense_Mutation_p.G159R|CHI3L2_ENST00000466741.1_Missense_Mutation_p.G159R|CHI3L2_ENST00000369744.2_Missense_Mutation_p.G228R Q15782 CH3L2_HUMAN chitinase 3-like 2 238 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) GCAGGACAGAGGGCCAAGCTC 0.577000 11 50 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766404 57766404 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57766404C>T ENST00000371030.2 + 1 330 c.330C>T c.(328-330)gcC>gcT p.A110A NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 110 Pro-rich. 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) AGCCGGCGGCCCCTACGCTGA 0.687000 6 22 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369482 86369482 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:86369482T>G ENST00000400286.2 - 2 1760 c.1162A>C c.(1162-1164)Act>Cct p.T388P NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 388 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) ATTTCCAAAGTGAAATATTCC 0.358000 5 39 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151789714 151789714 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:151789714G>A ENST00000356728.6 - 2 204 c.50C>T c.(49-51)tCg>tTg p.S17L RORC_ENST00000392697.3_Missense_Mutation_p.S92L|RORC_ENST00000318247.6_Missense_Mutation_p.S38L NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 38 Modulating (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GATCCCAGACGACTTGTCCCC 0.517000 7 49 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24209527 24209527 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:24209527G>A ENST00000265769.4 + 21 2316 c.2206G>A c.(2206-2208)Gat>Aat p.D736N RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.*484*|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 736 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCATGTGTATGATCTGCCAGT 0.378000 18 39 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35084685 35084685 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:35084685C>T ENST00000290378.4 - 4 1195 c.540G>A c.(538-540)ctG>ctA p.L180L RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 180 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CAGCCAGATCCAGACGCATGA 0.552000 16 72 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86697494 86697494 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:86697494G>A ENST00000409556.1 + 12 2052 c.1687G>A c.(1687-1689)Gac>Aac p.D563N KDM3A_ENST00000542128.1_Missense_Mutation_p.D511N|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Missense_Mutation_p.D563N|KDM3A_ENST00000312912.5_Missense_Mutation_p.D563N Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 563 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 GCAACAGAAGGACTCACCTGT 0.473000 10 41 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113785692 113785692 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:113785692C>T ENST00000327407.2 - 5 369 c.261_splice c.e5-1 p.E88_splice IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 88 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 ATATTTTTTTCCTGGGGGTGG 0.468000 11 57 0 0 1 0 0 P2RY6 5031 broad.mit.edu 37 11 73008283 73008283 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:73008283G>A ENST00000393590.2 + 2 1019 c.720G>A c.(718-720)atG>atA p.M240I P2RY6_ENST00000540124.1_Missense_Mutation_p.M240I|P2RY6_ENST00000540342.1_Missense_Mutation_p.M240I|P2RY6_ENST00000393591.1_Missense_Mutation_p.M240I|P2RY6_ENST00000393592.2_Missense_Mutation_p.M240I|P2RY6_ENST00000538328.1_Missense_Mutation_p.M240I|P2RY6_ENST00000349767.2_Missense_Mutation_p.M240I|P2RY6_ENST00000542092.1_Missense_Mutation_p.M240I NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 240 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 CGGCCCGCATGGCCGTGGTGG 0.692000 11 114 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54350166 54350166 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54350166C>T ENST00000243103.3 + 2 761 c.665C>T c.(664-666)tCg>tTg p.S222L NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 222 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 AAGCCCTATTCGAAGTTGCAA 0.582000 18 125 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4907323 4907323 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:4907323C>T ENST00000320785.5 + 11 1252 c.895C>T c.(895-897)Ccc>Tcc p.P299S NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 299 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGATTTTATCCCCTACAGGGA 0.517000 22 101 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768684 31768684 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:31768684C>T ENST00000240587.4 - 2 2342 c.2015G>A c.(2014-2016)aGc>aAc p.S672N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 672 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCGCGGGGGGCTGGGGCTGTT 0.657000 4 44 0 0 1 0 0 CCL2 6347 broad.mit.edu 37 17 32583287 32583287 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:32583287G>A ENST00000225831.4 + 2 188 c.123G>A c.(121-123)agG>agA p.R41R CCL2_ENST00000580907.1_Silent_p.R41R NM_002982.3 NP_002973.1 P13500 CCL2_HUMAN chemokine (C-C motif) ligand 2 41 Involved in GAG binding. angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 6 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) TCACCAATAGGAAGATCTCAG 0.448000 8 89 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107840617 107840617 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107840617G>A ENST00000328300.6 + 24 1842 c.1598G>A c.(1597-1599)gGa>gAa p.G533E COL4A5_ENST00000361603.2_Missense_Mutation_p.G533E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 533 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCATTCCAGGAGCTCCAGGT 0.403000 Alport syndrome with Diffuse Leiomyomatosis 6 35 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40940194 40940194 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40940194C>T ENST00000246914.5 + 9 1931 c.1910C>T c.(1909-1911)tCc>tTc p.S637F WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 637 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGTGACTTTTCCCCCGGGGAC 0.537000 23 190 0 0 1 0 0 MARCH3 115123 broad.mit.edu 37 5 126250785 126250785 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:126250785C>T ENST00000308660.5 - 3 744 c.230G>A c.(229-231)gGc>gAc p.G77D MARCH3_ENST00000515241.1_Missense_Mutation_p.G77D|MARCH3_ENST00000502289.1_5'UTR NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 77 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) TTGGCTGCTGCCCTCGTGGCA 0.582000 8 30 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49459655 49459655 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:49459655G>A ENST00000374201.3 - 2 407 c.105C>T c.(103-105)tcC>tcT p.S35S FRMPD2_ENST00000407470.4_Silent_p.S26S|FRMPD2_ENST00000305531.3_Silent_p.S33S NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 35 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGAACAGGAGGGACCAGATTT 0.557000 11 43 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306726 54306726 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:54306726C>T ENST00000545554.1 + 1 1626 c.1626C>T c.(1624-1626)ttC>ttT p.F542F UNC13C_ENST00000260323.11_Silent_p.F542F|UNC13C_ENST00000537900.1_Silent_p.F542F Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 542 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) GTGATTTTTTCACTGCTAAAC 0.373000 5 27 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809495 48809495 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:48809495C>T ENST00000309835.3 + 1 1733 c.1723C>T c.(1723-1725)Cca>Tca p.P575S STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575S|STON1_ENST00000406226.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575S|STON1_ENST00000404752.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTTTCCTGTCCCATCGCAGTG 0.498000 4 72 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87726037 87726037 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:87726037C>T ENST00000305344.4 + 2 1688 c.985C>T c.(985-987)Ctg>Ttg p.L329L HTR1E_ENST00000369584.1_Silent_p.L329L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 329 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) GGCCGACTTTCTGACGTGGCT 0.443000 25 135 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4470635 4470635 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4470635G>A ENST00000325719.4 + 1 111 c.66G>A c.(64-66)ctG>ctA p.L22L NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCCAGGCCTGGAACACCTGC 0.507000 8 70 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540426 169540426 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:169540426C>T ENST00000340806.6 + 1 717 c.717C>T c.(715-717)ctC>ctT p.L239L NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 239 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TGTCGGTGCTCGATTTATCCC 0.577000 10 53 0 0 1 0 0 ANG 283 broad.mit.edu 37 14 21162093 21162093 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:21162093T>C ENST00000336811.6 + 2 970 c.370T>C c.(370-372)Ttc>Ctc p.F124L ANG_ENST00000397990.4_Missense_Mutation_p.F124L|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000554073.1_Intron|AL163636.6_ENST00000553909.1_RNA NM_001145.4 NP_001136.1 P03950 ANGI_HUMAN angiogenin, ribonuclease, RNase A family, 5 124 actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1) 5 all_cancers(95;0.00387) all_cancers(140;0.196)|all_epithelial(140;0.156) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07) CACAGCGGGGTTCAGAAACGT 0.522000 12 73 0 0 1 0 0 FAM213A 84293 broad.mit.edu 37 10 82187231 82187231 + Silent SNP C C T rs150904688 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:82187231C>T ENST00000372181.1 + 4 1025 c.555C>T c.(553-555)ttC>ttT p.F185F FAM213A_ENST00000372185.1_Silent_p.F174F|FAM213A_ENST00000372188.1_Silent_p.F185F|FAM213A_ENST00000372187.5_Silent_p.F185F NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 185 extracellular region GGGGAGTTTTCGTGGTGGGAT 0.522000 4 62 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103782 53103782 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:53103782G>A ENST00000408890.4 + 1 434 c.418G>A c.(418-420)Ggg>Agg p.G140R NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 140 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGTGACCATCGGGATCGCGCC 0.716000 7 49 0 0 1 0 0 CLCA3P 9629 broad.mit.edu 37 1 87102522 87102522 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:87102522G>A ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA CTCCGGTGGGGAGTATTTGAT 0.368000 21 93 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49407878 49407878 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:49407878G>A ENST00000299191.3 + 1 145 c.28G>A c.(28-30)Gat>Aat p.D10N NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 10 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GGACCTGAAGGATTTAATGCC 0.532000 4 99 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30329731 30329731 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:30329731G>A ENST00000361371.4 - 15 2965 c.2815C>T c.(2815-2817)Ctt>Ttt p.L939F LTN1_ENST00000389194.2_Missense_Mutation_p.L985F NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 939 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ACTCCCATAAGATAAGAATCT 0.378000 5 44 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88265139 88265139 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:88265139C>T ENST00000369536.5 - 5 427 c.382G>A c.(382-384)Gtg>Atg p.V128M NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 128 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) AATTCAACCACAATCTTCTTC 0.388000 5 33 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21414932 21414932 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:21414932G>A ENST00000534331.1 - 2 338 c.288C>T c.(286-288)ttC>ttT p.F96F C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Silent_p.F86F|NEBL_ENST00000417816.2_Intron NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 96 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TGTAGAGACTGAAGCTGACTC 0.607000 10 54 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70098769 70098769 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70098769C>T ENST00000370598.1 + 32 5376 c.4555C>T c.(4555-4557)Caa>Taa p.Q1519* BAI3_ENST00000546190.1_Nonsense_Mutation_p.Q483*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.Q725* NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1519 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGGTGACTTTCAAACAGAAGT 0.423000 6 34 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7551075 7551075 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7551075C>T ENST00000313599.3 - 7 1571 c.1514G>A c.(1513-1515)tGg>tAg p.W505* CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W505*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W515* Q9NR16 C163B_HUMAN CD163 molecule-like 1 505 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCTTGTGCTCCATCTGTCATG 0.468000 8 71 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956018 18956018 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:18956018G>A ENST00000302797.3 - 1 538 c.314C>T c.(313-315)tCc>tTc p.S105F MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 105 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGCAAAGTAGGAAAACATCAT 0.547000 18 112 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42200588 42200588 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42200588G>A ENST00000541110.1 - 17 3737 c.3169C>T c.(3169-3171)Cac>Tac p.H1057Y TRERF1_ENST00000372917.4_Missense_Mutation_p.H966Y|TRERF1_ENST00000372922.4_Missense_Mutation_p.H1037Y|TRERF1_ENST00000354325.2_Missense_Mutation_p.H954Y|TRERF1_ENST00000340840.2_Missense_Mutation_p.H966Y Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1037 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGCCCCCGTGGATGCGGGCA 0.572000 5 8 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117677906 117677906 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117677906C>T ENST00000368508.3 - 25 4225 c.4027G>A c.(4027-4029)Gat>Aat p.D1343N GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.D1338N NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1343 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) TTAGAGGTATCAATAGCCATT 0.413000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 68 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82453651 82453651 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82453651C>T ENST00000423517.2 - 19 14834 c.14497G>A c.(14497-14499)Gat>Aat p.D4833N PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.D4833N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4695 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGCCATGATCAATGCTTTCA 0.438000 4 37 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216235053 216235053 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:216235053T>C ENST00000354785.4 - 41 7186 c.6817A>G c.(6817-6819)Aag>Gag p.K2273E FN1_ENST00000432072.2_Missense_Mutation_p.K2063E|FN1_ENST00000323926.6_Missense_Mutation_p.K2242E|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.K2151E|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.K2092E|FN1_ENST00000421182.1_Missense_Mutation_p.K2036E|FN1_ENST00000346544.3_Missense_Mutation_p.K2062E|FN1_ENST00000357867.4_Missense_Mutation_p.K1972E|FN1_ENST00000446046.1_Missense_Mutation_p.K2126E|FN1_ENST00000359671.1_Missense_Mutation_p.K2182E|FN1_ENST00000443816.1_Missense_Mutation_p.K2061E P02751 FINC_HUMAN fibronectin 1 2182 Fibrin-binding 2.|Fibronectin type-I 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCCGAACCTTATGCCTCTGC 0.527000 6 69 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101490340 101490340 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:101490340G>A ENST00000392979.3 + 18 2021 c.1660G>A c.(1660-1662)Gag>Aag p.E554K ANO4_ENST00000392977.3_Missense_Mutation_p.E589K|ANO4_ENST00000550015.1_Missense_Mutation_p.E109K|ANO4_ENST00000299222.9_Missense_Mutation_p.E109K NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 589 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GTCTGAGTGGGAGAACAGCTT 0.478000 HNSCC(74;0.22) 6 70 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42689028 42689028 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:42689028C>T ENST00000230882.4 + 4 363 c.173C>T c.(172-174)tCa>tTa p.S58L GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Missense_Mutation_p.S36L NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 58 S -> L (in LARS). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGTGCCGTTCACCTGAGCGA 0.443000 27 149 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25718621 25718621 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:25718621G>A ENST00000520164.1 - 13 1823 c.1286C>T c.(1285-1287)tCc>tTc p.S429F EBF2_ENST00000408929.3_Missense_Mutation_p.S281F|EBF2_ENST00000535548.1_Missense_Mutation_p.S160F NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 429 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCTGCCATAGGAGTTGATTCC 0.493000 16 77 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157505554 157505554 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:157505554C>T ENST00000346085.5 + 13 3536 c.3535C>T c.(3535-3537)Cag>Tag p.Q1179* ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1219*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1166*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1161* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1166 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) GCCCAAGCTCCAGCCGCCATC 0.617000 8 37 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9064904 9064904 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:9064904G>A ENST00000400906.1 - 11 1226 c.1227C>T c.(1225-1227)ttC>ttT p.F409F NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 409 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGACTGCAGGAAGATCTCGG 0.647000 16 41 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30325549 30325549 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:30325549A>C ENST00000361371.4 - 17 3379 c.3229T>G c.(3229-3231)Tta>Gta p.L1077V LTN1_ENST00000389194.2_Missense_Mutation_p.L1123V NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1077 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CTGTTAAATAACAGCTGCAAA 0.328000 6 27 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4700391 4700391 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:4700391C>T ENST00000399577.5 + 2 207 c.114C>T c.(112-114)ttC>ttT p.F38F MGRN1_ENST00000586183.1_Silent_p.F38F|MGRN1_ENST00000415496.1_Silent_p.F38F|MGRN1_ENST00000262370.7_Silent_p.F38F|MGRN1_ENST00000588994.1_Silent_p.F38F NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 38 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CGCACTTTTTCATGGGAGGAG 0.453000 19 115 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50712953 50712953 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:50712953G>A ENST00000008391.3 + 6 1245 c.1017G>A c.(1015-1017)ctG>ctA p.L339L TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 339 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AGATGATCCTGGCGACCAAGT 0.408000 14 73 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33587611 33587611 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:33587611G>A ENST00000262873.7 + 36 4901 c.4809G>A c.(4807-4809)gaG>gaA p.E1603E NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1561 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGGAGCTGGAGGAGACCAAGA 0.642000 4 37 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32267680 32267680 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:32267680G>A ENST00000343380.5 - 3 592 c.453C>T c.(451-453)gtC>gtT p.V151V NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 151 apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 AGTTCAGGTCGACGACACCGT 0.582000 9 37 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98606041 98606041 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:98606041G>A ENST00000359863.4 + 69 10962 c.10753G>A c.(10753-10755)Gag>Aag p.E3585K TRRAP_ENST00000446306.3_Missense_Mutation_p.E3574K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3556K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3585 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCGCCTCGTGGAGGACAACCC 0.612000 13 166 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53203178 53203178 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53203178G>A ENST00000551956.1 - 4 1315 c.823C>T c.(823-825)Ctc>Ttc p.L275F KRT4_ENST00000458244.2_Missense_Mutation_p.L255F|KRT4_ENST00000293774.4_Missense_Mutation_p.L349F B4DRS2 B4DRS2_HUMAN keratin 4 275 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GCATCATAGAGGACCTTCAGG 0.537000 5 68 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181726085 181726085 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:181726085G>A ENST00000526775.1 + 29 4260 c.4095G>A c.(4093-4095)gtG>gtA p.V1365V CACNA1E_ENST00000367567.4_Silent_p.V991V|CACNA1E_ENST00000357570.5_Silent_p.V1335V|CACNA1E_ENST00000358338.5_Silent_p.V1316V|CACNA1E_ENST00000367573.2_Silent_p.V1384V|CACNA1E_ENST00000360108.3_Silent_p.V1365V|CACNA1E_ENST00000367570.1_Silent_p.V1384V NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1384 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 CTGTAGATGTGACAGAGGAAG 0.473000 12 71 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55357683 55357683 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55357683G>A ENST00000524622.1 - 6 745 c.84C>T c.(82-84)ttC>ttT p.F28F TESPA1_ENST00000316577.8_Silent_p.F166F|TESPA1_ENST00000531122.1_Silent_p.F28F|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Silent_p.F28F|TESPA1_ENST00000449076.1_Silent_p.F166F NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 166 AGCCCAGACTGAAGAGGACAT 0.483000 7 100 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21045351 21045351 + Silent SNP G G A rs143127393 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21045351G>A ENST00000261383.3 - 36 5141 c.5142C>T c.(5140-5142)ggC>ggT p.G1714G DNAH3_ENST00000415178.1_Silent_p.G1714G NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1714 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGTCTTGCCGCCCATGGGGT 0.498000 4 44 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167040008 167040008 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:167040008C>T ENST00000392766.2 - 12 1220 c.880G>A c.(880-882)Gaa>Aaa p.E294K ZBBX_ENST00000392767.2_Missense_Mutation_p.E294K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E294K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E294K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E265K|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 294 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GTCTGTACTTCGCATTCTTCC 0.289000 8 34 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766195 13766195 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13766195G>A ENST00000265104.4 - 59 10095 c.9991C>T c.(9991-9993)Caa>Taa p.Q3331* DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3331 Stalk (By similarity). 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) ACTTTCCTTTGAAACAGCAGC 0.517000 Kartagener syndrome 9 123 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14819254 14819254 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:14819254C>T ENST00000380881.4 - 15 3342 c.2527G>A c.(2527-2529)Gat>Aat p.D843N FREM1_ENST00000422223.2_Missense_Mutation_p.D842N|FREM1_ENST00000380880.3_Missense_Mutation_p.D842N Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 842 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GTATGGAGATCGCCCCAAGAA 0.423000 3 31 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69114916 69114916 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:69114916G>A ENST00000229179.4 + 15 1602 c.1270G>A c.(1270-1272)Gag>Aag p.E424K NUP107_ENST00000378905.2_Missense_Mutation_p.E273K|NUP107_ENST00000539906.1_Missense_Mutation_p.E395K NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 424 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TAATAGATACGAGAGAGCAAT 0.269000 6 73 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89895100 89895100 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:89895100C>T ENST00000435811.1 - 6 1128 c.674G>A c.(673-675)cGg>cAg p.R225Q GABRR1_ENST00000369451.3_Missense_Mutation_p.R155Q|GABRR1_ENST00000454853.2_Missense_Mutation_p.R242Q NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 242 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GAGTGAGATCCGTTCATCTGT 0.483000 11 92 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14303158 14303158 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:14303158G>A ENST00000545643.1 - 5 848 c.535C>T c.(535-537)Cgg>Tgg p.R179W RRAS2_ENST00000534746.1_Missense_Mutation_p.R96W|RRAS2_ENST00000537760.1_Missense_Mutation_p.R138W|RRAS2_ENST00000532814.1_Missense_Mutation_p.R96W|RRAS2_ENST00000526063.1_Missense_Mutation_p.R96W|RRAS2_ENST00000529237.1_Missense_Mutation_p.R96W|RRAS2_ENST00000414023.2_Missense_Mutation_p.R96W|RRAS2_ENST00000256196.4_Missense_Mutation_p.R173W NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 173 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) CTGATAACCCGGACAAGTTCA 0.353000 11 60 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70983763 70983763 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70983763G>A ENST00000357250.6 - 12 1210 c.1052C>T c.(1051-1053)tCg>tTg p.S351L COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.S108L|COL9A1_ENST00000320755.7_Missense_Mutation_p.S108L NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 351 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AAATCCACGCGATCCAGGCAC 0.294000 3 17 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113533172 113533172 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:113533172G>A ENST00000257600.3 + 8 2094 c.1591G>A c.(1591-1593)Gga>Aga p.G531R DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 531 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CACCGCAAGAGGATTCCCTCG 0.612000 7 67 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84634157 84634157 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:84634157G>A ENST00000398309.2 - 1 476 c.6C>T c.(4-6)ttC>ttT p.F2F DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Silent_p.F2F|DLG2_ENST00000524982.1_Silent_p.F2F NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 2 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AACATGCAAAGAACATTGCAG 0.488000 5 40 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50705382 50705382 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:50705382G>A ENST00000442544.2 + 9 2085 c.1469G>A c.(1468-1470)gGa>gAa p.G490E DCC_ENST00000412726.1_Missense_Mutation_p.G338E|DCC_ENST00000581580.1_Missense_Mutation_p.G145E NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 490 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTCACTGTGGGAAACCTGAAG 0.478000 7 36 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57925811 57925811 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:57925811G>A ENST00000574161.1 + 8 924 c.804_splice c.e8-1 p.E269_splice GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 269 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TCTTTTGCAGGAAGAAACCAA 0.463000 7 75 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759924 196759924 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196759924C>T ENST00000312428.6 - 30 4772 c.4672G>A c.(4672-4674)Ggg>Agg p.G1558R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1558 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATTTTACCCCAGGAAACAAA 0.308000 5 44 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48782181 48782181 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:48782181G>A ENST00000316623.5 - 25 3404 c.2949C>T c.(2947-2949)tcC>tcT p.S983S NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 983 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTGCCCCGACGGAGCAGCAGC 0.602000 13 60 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7818040 7818040 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:7818040G>A ENST00000329434.2 - 1 480 c.450C>T c.(448-450)ctC>ctT p.L150L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGACAGCAATGAGAAAACCAG 0.393000 10 49 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251172 43251172 + Silent SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43251172G>T ENST00000259750.4 + 14 2777 c.2694G>T c.(2692-2694)ccG>ccT p.P898P NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 898 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCAAGCCCCCGGGGCCTGGGG 0.672000 12 24 0.00010058 0.000101216 1 1 0 TMF1 7110 broad.mit.edu 37 3 69097669 69097669 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:69097669C>T ENST00000543976.1 - 2 433 c.187G>A c.(187-189)Ggg>Agg p.G63R TMF1_ENST00000398559.2_Missense_Mutation_p.G63R|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 63 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GATTTCAACCCCCAGGTTGAA 0.378000 14 65 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208729 100208729 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:100208729G>A ENST00000209668.2 - 2 225 c.112C>T c.(112-114)Cgt>Tgt p.R38C ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 38 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACCTTAATACGAACTTCATGG 0.348000 6 35 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172357743 172357743 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:172357743G>A ENST00000358155.4 + 20 2492 c.2316G>A c.(2314-2316)agG>agA p.R772R DNM3_ENST00000355305.5_Silent_p.R778R|DNM3_ENST00000367731.1_Silent_p.R768R NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 778 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CAACCCAAAGGAGGCCAACAC 0.542000 6 24 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557778 149557778 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:149557778C>T ENST00000223210.4 + 7 1774 c.1529C>T c.(1528-1530)cCt>cTt p.P510L NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 TACACGGGGCCTTTTAAAGTG 0.463000 7 95 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8176715 8176715 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:8176715G>A ENST00000520004.1 - 6 3434 c.3170C>T c.(3169-3171)cCg>cTg p.P1057L SGK223_ENST00000330777.4_Missense_Mutation_p.P1057L Q86YV5 SG223_HUMAN 1057 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity CATGCTGGACGGCACCGAGGC 0.662000 18 79 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761987 130761987 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:130761987C>T ENST00000392429.1 + 2 2798 c.420C>T c.(418-420)ttC>ttT p.F140F TMEM200A_ENST00000545622.1_Silent_p.F140F|TMEM200A_ENST00000296978.3_Silent_p.F140F NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 140 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) TTTTCATTTTCATTTGTGCTA 0.413000 11 69 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196749533 196749533 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196749533C>T ENST00000312428.6 - 35 5639 c.5538_splice c.e35-1 p.G1847_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1847 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGAAAAATGCCCTGCATTGGA 0.348000 5 32 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137707786 137707786 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:137707786A>T ENST00000371817.3 + 52 4488 c.4074A>T c.(4072-4074)caA>caT p.Q1358H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1358 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CATAGGGTCAAGATGGTCCCC 0.567000 5 43 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035977 37035977 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:37035977T>G ENST00000379242.3 + 15 2054 c.1752T>G c.(1750-1752)agT>agG p.S584R VIT_ENST00000497382.1_Missense_Mutation_p.S238R|VIT_ENST00000404084.1_Missense_Mutation_p.S521R|VIT_ENST00000389975.3_Missense_Mutation_p.S569R|VIT_ENST00000379241.3_Missense_Mutation_p.S547R|VIT_ENST00000401530.1_Missense_Mutation_p.S548R NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 569 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GCTACTGGAGTGGTGGCACCA 0.567000 9 39 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367055 367055 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:367055C>T ENST00000240499.7 + 4 978 c.829C>T c.(829-831)Cat>Tat p.H277Y ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 277 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 TAAGAGAATTCATGCTGGAGA 0.358000 6 56 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32628082 32628082 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:32628082G>A ENST00000373625.3 + 9 961 c.868G>A c.(868-870)Gtc>Atc p.V290I KPNA6_ENST00000545542.1_Missense_Mutation_p.V295I|KPNA6_ENST00000537234.1_Missense_Mutation_p.V287I NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 290 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GATCCAGGCAGTCATAGACTC 0.542000 13 111 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983291 140983291 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140983291G>A ENST00000298296.1 + 6 1069 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000443323.2_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 357 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGACAGGAAGATGGCCG 0.592000 8 24 0 0 1 0 0 IAPP 3375 broad.mit.edu 37 12 21531332 21531332 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:21531332G>A ENST00000240652.3 + 3 378 c.242G>A c.(241-243)aGa>aAa p.R81K IAPP_ENST00000539393.1_Missense_Mutation_p.R81K|SLCO1A2_ENST00000307378.6_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR NM_000415.2 NP_000406.1 P10997 IAPP_HUMAN islet amyloid polypeptide 81 apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction extracellular region|soluble fraction hormone activity lung(3) 3 Perindopril(DB00790) GTTTTAAAGAGAGAGCCACTG 0.378000 6 75 0 0 1 0 0 UBE2N 7334 broad.mit.edu 37 12 93804643 93804643 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:93804643C>T ENST00000318066.2 - 3 662 c.285G>A c.(283-285)tgG>tgA p.W95* UBE2N_ENST00000549833.1_Nonsense_Mutation_p.W32*|UBE2N_ENST00000552442.1_Intron|UBE2N_ENST00000550657.1_3'UTR NM_003348.3 NP_003339.1 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 95 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity endometrium(3)|liver(2)|lung(5) 10 GTGCTGGGGACCACTTATCTA 0.483000 Direct reversal of damage;Rad6 pathway 6 63 0 0 1 0 0 RHOU 58480 broad.mit.edu 37 1 228879032 228879032 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228879032G>A ENST00000366691.3 + 3 988 c.321_splice c.e3-1 p.D108_splice NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 108 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) TTGGTTGCAGGATGAATTTGA 0.448000 34 180 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635236 200635236 + Silent SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:200635236A>T ENST00000447706.2 - 2 784 c.633T>A c.(631-633)ccT>ccA p.P211P DDX59_ENST00000331314.6_Silent_p.P211P|DDX59_ENST00000367348.3_Silent_p.P211P Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 211 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 TTAAGACCTCAGGGAGACTAC 0.433000 26 150 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28913685 28913685 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:28913685C>T ENST00000257192.4 + 7 1030 c.819_splice c.e7+1 p.S273_splice NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 273 Cadherin 3. 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) GAACAGTCTTCAGTAAGTATT 0.373000 9 39 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622457 234622457 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234622457G>A ENST00000373414.3 + 1 820 c.820G>A c.(820-822)Gtc>Atc p.V274I UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GCCCAACATGGTCTTCATTGG 0.498000 6 75 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71748699 71748699 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:71748699A>G ENST00000567016.1 - 2 119 c.105T>C c.(103-105)aaT>aaC p.N35N PHLPP2_ENST00000568954.1_5'UTR|PHLPP2_ENST00000356272.3_5'UTR|PHLPP2_ENST00000393524.2_5'UTR|PHLPP2_ENST00000360429.3_5'UTR Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 0 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGCGTTTCATATTTCTCTAAA 0.383000 3 17 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94032908 94032908 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94032908G>A ENST00000370244.1 - 13 2515 c.2227C>T c.(2227-2229)Cat>Tat p.H743Y BCAR3_ENST00000539242.1_Missense_Mutation_p.H419Y|BCAR3_ENST00000260502.6_Missense_Mutation_p.H743Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.H743Y|BCAR3_ENST00000370247.3_Missense_Mutation_p.H652Y NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 743 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GTTGCCAAATGGTTCAGCATG 0.512000 4 59 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291766 141291766 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:141291766G>A ENST00000247452.3 - 3 355 c.8C>T c.(7-9)cCc>cTc p.P3L NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 3 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GCCTGGAACGGGAGGCATGAC 0.522000 HNSCC(46;0.14) 20 65 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056159 48056159 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:48056159C>T ENST00000316364.5 + 10 1299 c.860C>T c.(859-861)cCt>cTt p.P287L SEMA6D_ENST00000536845.2_Missense_Mutation_p.P287L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P287L|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P287L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P287L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P287L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P287L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P287L NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 287 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGTTCTGTCCCTGGAGATTCG 0.493000 13 73 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206023511 206023511 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:206023511C>T ENST00000406610.2 + 11 1707 c.1500C>T c.(1498-1500)ccC>ccT p.P500P PARD3B_ENST00000462231.1_Silent_p.P500P|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.P500P|PARD3B_ENST00000351153.1_Silent_p.P500P NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 500 PDZ 3. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TTGAGATCCCCCTGAATGATT 0.468000 20 93 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103270444 103270444 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103270444G>A ENST00000424685.2 - 20 2804 c.2645C>T c.(2644-2646)tCt>tTt p.S882F RELN_ENST00000428762.1_Missense_Mutation_p.S882F|RELN_ENST00000343529.5_Missense_Mutation_p.S882F P78509 RELN_HUMAN reelin 882 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAATCCCAGAGACTGAGTGAC 0.413000 37 88 0 0 1 0 0 PSCA 8000 broad.mit.edu 37 8 143763496 143763496 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:143763496C>T ENST00000301258.4 + 3 374 c.291C>T c.(289-291)atC>atT p.I97I NM_005672.4 NP_005663.2 D3DWI6 D3DWI6_HUMAN prostate stem cell antigen 97 endometrium(1)|large_intestine(1) 2 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGCTGCCATCCTTGCGCTGC 0.672000 4 35 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656677 40656677 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40656677G>A ENST00000406785.1 - 2 933 c.744C>T c.(742-744)ttC>ttT p.F248F SLC8A1_ENST00000408028.2_Silent_p.F248F|SLC8A1_ENST00000406391.2_Silent_p.F248F|SLC8A1_ENST00000405901.3_Silent_p.F248F|SLC8A1_ENST00000405269.1_Silent_p.F248F|SLC8A1_ENST00000403092.1_Silent_p.F248F|SLC8A1_ENST00000402441.1_Silent_p.F248F|SLC8A1_ENST00000332839.4_Silent_p.F248F|SLC8A1_ENST00000542756.1_Silent_p.F248F|SLC8A1_ENST00000542024.1_Silent_p.F248F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 248 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.F248F(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTACCCAAGCGAACACAACAC 0.443000 10 91 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582559 55582559 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:55582559C>T ENST00000361849.3 - 34 5327 c.4933G>A c.(4933-4935)Gaa>Aaa p.E1645K PCDH15_ENST00000395430.1_Missense_Mutation_p.E1640K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1620K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1603K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1643K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1574K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1643 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATCAGTGTTTCACCTTGCCTT 0.408000 HNSCC(58;0.16) 18 82 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172725267 172725267 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:172725267C>T ENST00000422440.2 - 3 170 c.133G>A c.(133-135)Gga>Aga p.G45R SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_5'UTR NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 45 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TTATACAGTCCAAGATAGCGC 0.388000 6 51 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143747 56143747 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56143747C>T ENST00000302270.1 + 1 648 c.648C>T c.(646-648)gtC>gtT p.V216V NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TTGTCTTTGTCTCCTACATGT 0.493000 12 64 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995950 140995950 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140995950C>T ENST00000285879.4 + 4 3046 c.2760C>T c.(2758-2760)ctC>ctT p.L920L MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 920 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGTTTCTTCTCCTCAAATATC 0.488000 HNSCC(15;0.026) 47 150 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121454175 121454175 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:121454175C>T ENST00000260197.7 + 26 3718 c.3589C>T c.(3589-3591)Cac>Tac p.H1197Y SORL1_ENST00000534286.1_Missense_Mutation_p.H107Y|SORL1_ENST00000532694.1_Missense_Mutation_p.H43Y|SORL1_ENST00000525532.1_Missense_Mutation_p.H141Y NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1197 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AGCCATCTATCACACCTGTGA 0.582000 5 27 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45938899 45938899 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:45938899G>A ENST00000374391.2 + 11 1540 c.1487G>A c.(1486-1488)gGc>gAc p.G496D ALOX5_ENST00000542434.1_Missense_Mutation_p.G496D NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 496 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TACTACGAGGGCGACCAGGTG 0.692000 5 15 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186338392 186338392 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:186338392C>T ENST00000411641.2 + 7 996 c.777C>T c.(775-777)ccC>ccT p.P259P AHSG_ENST00000273784.5_Silent_p.P260P P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 259 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCTCACAGCCCCAACCAGAAG 0.612000 29 116 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833207 43833207 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:43833207C>T ENST00000319294.6 + 4 460 c.429C>T c.(427-429)ccC>ccT p.P143P UBASH3A_ENST00000398367.1_Silent_p.P143P|UBASH3A_ENST00000291535.6_Silent_p.P143P NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 143 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GCTCCTTCCCCACGGCCGTGC 0.612000 25 95 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162864441 162864441 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:162864441G>A ENST00000366898.1 - 2 174 c.72C>T c.(70-72)ttC>ttT p.F24F PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Silent_p.F24F|PARK2_ENST00000366896.1_Silent_p.F24F|PARK2_ENST00000366892.1_Silent_p.F24F|PARK2_ENST00000366894.1_5'UTR NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 24 Ubiquitin-like. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CCTTGAGCTGGAAGATGCTGG 0.532000 17 86 0 0 1 0 0 TMEM104 54868 broad.mit.edu 37 17 72832787 72832787 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72832787C>T ENST00000335464.5 + 10 1614 c.1452C>T c.(1450-1452)ttC>ttT p.F484F TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.F484F NM_017728.3 NP_060198.3 Q8NE00 TM104_HUMAN transmembrane protein 104 484 integral to membrane NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) GCTTCATTTTCGTCACGGCCA 0.612000 4 51 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995324 36995324 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36995324C>T ENST00000274963.8 + 15 1896 c.1725C>T c.(1723-1725)ctC>ctT p.L575L NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 575 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ATGACCCCCTCGTGCTCTATG 0.667000 15 89 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872633 51872633 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51872633C>T ENST00000371497.5 + 2 3523 c.2636C>T c.(2635-2637)cCa>cTa p.P879L TSHZ2_ENST00000603338.2_Missense_Mutation_p.P876L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P876L|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 879 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GATCTGGGCCCACAAGAGCGT 0.512000 8 84 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129905216 129905216 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:129905216A>C ENST00000368149.2 - 13 1843 c.1755T>G c.(1753-1755)caT>caG p.H585Q ARHGAP18_ENST00000463225.1_5'UTR NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 585 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) CTTTCGAAAGATGGGGAGCTT 0.473000 7 41 0 0 1 0 0 IGKV2D-29 28882 broad.mit.edu 37 2 89987011 89987011 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:89987011C>T ENST00000491977.1 + 0 322 AGATTTCACACTGAAAATCAG 0.522000 13 86 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117156629 117156629 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:117156629G>A ENST00000369486.3 - 4 1355 c.590C>T c.(589-591)tCc>tTc p.S197F IGSF3_ENST00000369483.1_Missense_Mutation_p.S197F|IGSF3_ENST00000318837.6_Missense_Mutation_p.S197F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 197 Ig-like C2-type 2. 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) TCGGCTCAGGGAGATGACCTC 0.617000 7 92 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24114042 24114042 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:24114042G>A ENST00000250383.6 + 8 1158 c.682G>A c.(682-684)Ggg>Agg p.G228R DHRS2_ENST00000344777.7_Missense_Mutation_p.M231I NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 206 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CCAGTTTCATGGGAATGAGTC 0.537000 8 47 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35644863 35644863 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:35644863A>T ENST00000540320.1 + 10 1979 c.1445A>T c.(1444-1446)aAa>aTa p.K482I NBEA_ENST00000310336.4_Missense_Mutation_p.K482I|NBEA_ENST00000400445.3_Missense_Mutation_p.K482I|NBEA_ENST00000379939.2_Missense_Mutation_p.K482I Q8NFP9 NBEA_HUMAN neurobeachin 482 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGGATGTGAAAGCGATAGTA 0.303000 5 51 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84269855 84269855 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:84269855G>A ENST00000428679.2 - 28 3192 c.2599C>T c.(2599-2601)Ccc>Tcc p.P867S SNAP91_ENST00000195649.6_Missense_Mutation_p.P862S|SNAP91_ENST00000520213.1_Missense_Mutation_p.P560S|SNAP91_ENST00000439399.2_Missense_Mutation_p.P867S|SNAP91_ENST00000520302.1_Missense_Mutation_p.P837S|SNAP91_ENST00000437520.1_Missense_Mutation_p.P560S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P867S|SNAP91_ENST00000521743.1_Missense_Mutation_p.P867S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P862S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 867 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GCTCCAAAGGGGGGCCTCATC 0.517000 13 69 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52797594 52797594 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:52797594A>G ENST00000233027.5 - 5 915 c.713T>C c.(712-714)aTa>aCa p.I238T NEK4_ENST00000535191.1_Missense_Mutation_p.I149T|NEK4_ENST00000383721.4_Missense_Mutation_p.I238T NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 238 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) CATTGTTCTTATCAGTTCTGC 0.428000 28 110 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101714379 101714379 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:101714379C>T ENST00000251127.6 - 41 4777 c.4696G>A c.(4696-4698)Gag>Aag p.E1566K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1566 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGGCCACCTCCTCCTCTATG 0.602000 7 62 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18646617 18646617 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:18646617C>T ENST00000379989.3 + 19 2908 c.2623C>T c.(2623-2625)Cgg>Tgg p.R875W CDKL5_ENST00000379996.3_Missense_Mutation_p.R875W NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 875 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding p.R875W(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CTCAGAAATTCGGATTCACCC 0.577000 33 82 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13920635 13920635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13920635C>T ENST00000265104.4 - 6 856 c.752G>A c.(751-753)gGa>gAa p.G251E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 251 Stem (By similarity). 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) CTCTATTTTTCCCAAAGTCTC 0.393000 Kartagener syndrome 14 80 0 0 1 0 0 ABO 28 broad.mit.edu 37 9 136131695 136131695 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:136131695G>A ENST00000453660.2 - 0 433 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GGCCCACCATGAAGTGCTTCT 0.687000 14 58 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31927091 31927091 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31927091C>T ENST00000375394.2 + 2 153 c.40C>T c.(40-42)Ccc>Tcc p.P14S SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 14 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CCCTCCAGATCCCCTGGACCT 0.592000 92 343 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79458176 79458176 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:79458176G>A ENST00000264895.6 + 72 11560 c.11120G>A c.(11119-11121)tGg>tAg p.W3707* NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3702 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 CGAGTACTTTGGAATCCAGAA 0.383000 15 87 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053729 94053729 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:94053729G>A ENST00000297268.6 + 41 3118 c.2647G>A c.(2647-2649)Ggt>Agt p.G883S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 883 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGGTGAACGTGGTCTACCAGG 0.478000 HNSCC(75;0.22) 28 75 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84639263 84639263 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:84639263C>T ENST00000286744.5 + 20 2742 c.2518C>T c.(2518-2520)Cag>Tag p.Q840* ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q840*|ADAMTSL3_ENST00000567716.1_3'UTR NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 840 TSP type-1 7. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTTGGAATCCAGAGAAGAAA 0.522000 11 97 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175375835 175375835 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175375835C>T ENST00000367674.1 - 3 724 c.16G>A c.(16-18)Gaa>Aaa p.E6K TNR_ENST00000263525.2_Missense_Mutation_p.E6K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 6 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) ACCACTGTTTCCCCATCTGCC 0.532000 16 88 0 0 1 0 0 HOXA3 3200 broad.mit.edu 37 7 27147966 27147966 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:27147966G>A ENST00000396352.4 - 3 1099 c.900C>T c.(898-900)ccC>ccT p.P300P HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P300P NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 300 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TACCCTGGGGGGGCTTGGAGA 0.716000 10 28 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5096961 5096961 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:5096961C>T ENST00000396912.1 + 3 570 c.51C>T c.(49-51)ttC>ttT p.F17F RBAK_ENST00000407184.1_Silent_p.F17F|RBAK_ENST00000396904.2_Silent_p.F17F|RBAK_ENST00000353796.3_Silent_p.F17F NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 17 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CTGTGGATTTCACCCAGGAGG 0.463000 15 139 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692126 116692126 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:116692126C>T ENST00000357780.3 - 3 762 c.648G>A c.(646-648)gtG>gtA p.V216V NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GCAGCTCCTCCACGGTCTGGT 0.592000 14 156 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41076944 41076944 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:41076944G>A ENST00000373198.3 - 9 1711 c.1476C>T c.(1474-1476)tcC>tcT p.S492S PTPRT_ENST00000373190.1_Silent_p.S492S|PTPRT_ENST00000373193.3_Silent_p.S492S|PTPRT_ENST00000373187.1_Silent_p.S492S|PTPRT_ENST00000373184.1_Silent_p.S492S|PTPRT_ENST00000356100.2_Silent_p.S492S|PTPRT_ENST00000373201.1_Silent_p.S492S NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 492 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCCTTGGATGGATTCTAGAG 0.507000 23 121 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604460 90604460 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:90604460C>T ENST00000369352.1 + 1 273 c.273C>T c.(271-273)gtC>gtT p.V91V NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 91 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CTTCTTTGGTCTATATGGGCC 0.438000 8 33 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39504114 39504114 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:39504114G>A ENST00000518318.2 + 10 1839 c.1797G>A c.(1795-1797)caG>caA p.Q599Q POU6F2_ENST00000403058.1_Silent_p.Q635Q|POU6F2_ENST00000559001.1_Silent_p.Q580Q P78424 PO6F2_HUMAN POU class 6 homeobox 2 635 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 CTTCTGGGCAGGAAATGACCG 0.493000 5 21 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61458119 61458119 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:61458119G>A ENST00000343916.3 + 15 742 c.738_splice c.e15-1 p.G247_splice NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 247 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TCCTCTGCAGGGTCCCATTGG 0.677000 8 36 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68312408 68312408 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68312408C>T ENST00000393799.2 + 4 597 c.330C>T c.(328-330)ctC>ctT p.L110L PPP6R3_ENST00000393800.2_Silent_p.L110L|PPP6R3_ENST00000524904.1_Silent_p.L110L|PPP6R3_ENST00000524845.1_Silent_p.L110L|PPP6R3_ENST00000534534.1_Silent_p.L19L|PPP6R3_ENST00000527403.2_Silent_p.L110L|PPP6R3_ENST00000529710.1_Silent_p.L110L|PPP6R3_ENST00000393801.3_Silent_p.L110L|PPP6R3_ENST00000265637.4_Silent_p.L110L|PPP6R3_ENST00000265636.5_Silent_p.L110L Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 110 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 ATAGCTTCCTCCTAAACGATT 0.383000 6 57 0 0 1 0 0 TFPI 7035 broad.mit.edu 37 2 188361702 188361702 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:188361702G>A ENST00000233156.3 - 3 519 c.225C>T c.(223-225)ttC>ttT p.F75F AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.F75F|TFPI_ENST00000339091.4_Silent_p.F75F|TFPI_ENST00000409676.1_Silent_p.F75F NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 75 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) ACTGTCGAGTGAAAATATTGA 0.388000 4 43 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56081814 56081814 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56081814G>A ENST00000257880.7 - 25 3475 c.3256C>T c.(3256-3258)Ctc>Ttc p.L1086F ITGA7_ENST00000555728.1_Missense_Mutation_p.L1086F|ITGA7_ENST00000452168.2_Missense_Mutation_p.L949F|ITGA7_ENST00000394229.2_Missense_Mutation_p.L1042F|ITGA7_ENST00000394230.2_Missense_Mutation_p.L1046F|ITGA7_ENST00000553804.1_Missense_Mutation_p.L1046F|ITGA7_ENST00000347027.6_Missense_Mutation_p.L1036F|ITGA7_ENST00000257879.6_Missense_Mutation_p.L1042F Q13683 ITA7_HUMAN integrin, alpha 7 1086 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ACAGCCAGGAGGATGACCCAC 0.612000 14 119 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103237429 103237429 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:103237429T>A ENST00000553106.1 - 11 1666 c.1194A>T c.(1192-1194)aaA>aaT p.K398N PAH_ENST00000307000.2_Missense_Mutation_p.K393N NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 398 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTCACCTTACTTTCTCCTTGG 0.542000 5 36 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40392048 40392048 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40392048G>A ENST00000406785.1 - 5 2196 c.2007C>T c.(2005-2007)atC>atT p.I669I SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I697I|SLC8A1_ENST00000406391.2_Silent_p.I669I|SLC8A1_ENST00000405901.3_Silent_p.I700I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.I669I|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.I705I|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.I669I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I705I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.I700I|SLC8A1_ENST00000542024.1_Silent_p.I669I|SLC8A1-AS1_ENST00000444629.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 705 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCTCTCCCAGGATGGGGCGCC 0.512000 12 98 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48312729 48312729 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:48312729G>A ENST00000435803.1 + 17 3490 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1156 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AATGTGGACTGAAATCTGGGA 0.363000 6 46 0 0 1 0 0 MMP21 118856 broad.mit.edu 37 10 127460919 127460919 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:127460919G>A ENST00000368808.3 - 4 846 c.847C>T c.(847-849)Cat>Tat p.H283Y NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 283 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) CCAATTTCATGGACGGCCACC 0.567000 5 50 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16295247 16295247 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:16295247G>A ENST00000259727.4 + 9 982 c.868G>A c.(868-870)Ggt>Agt p.G290S GMPR_ENST00000544145.1_3'UTR NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 290 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) AGCCTCTGAGGGTAAGACTGT 0.498000 16 33 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161479 8161479 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:8161479C>T ENST00000419822.2 - 2 421 c.386G>A c.(385-387)tGa>tAa p.*129* RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000309737.6_Intron Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 0 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ATTAGATTTTCATTGATGTAA 0.279000 4 20 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422810 64422810 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:64422810C>T ENST00000262043.3 + 16 5666 c.5326C>T c.(5326-5328)Cct>Tct p.P1776S PHF3_ENST00000393387.1_Missense_Mutation_p.P1776S Q92576 PHF3_HUMAN PHD finger protein 3 1776 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ATCAGAATTTCCTTCTAAAAG 0.423000 13 116 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48429259 48429259 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48429259G>A ENST00000224605.2 - 2 892 c.627C>T c.(625-627)atC>atT p.I209I NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 209 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CCGCCTTGACGATGGGGGAGA 0.736000 11 40 0 0 1 0 0 C10orf107 219621 broad.mit.edu 37 10 63450376 63450376 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:63450376T>G ENST00000330194.2 + 4 590 c.285T>G c.(283-285)acT>acG p.T95T NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 95 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) TGATAGGAACTGAGGTAAGTA 0.348000 4 43 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059696 9059696 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9059696G>A ENST00000397910.4 - 3 27953 c.27750C>T c.(27748-27750)gcC>gcT p.A9250A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9252 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGAAGATGTGGCCTTTGTTG 0.453000 8 73 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116593759 116593759 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:116593759G>A ENST00000410059.1 + 22 2457 c.1977G>A c.(1975-1977)atG>atA p.M659I DPP10_ENST00000310323.8_Missense_Mutation_p.M652I|DPP10_ENST00000409163.1_Missense_Mutation_p.M609I|DPP10_ENST00000393147.2_Missense_Mutation_p.M663I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 659 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TTGCATCAATGATCTTAAAAT 0.353000 5 21 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721432 160721432 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:160721432C>T ENST00000274547.2 - 11 1412 c.1195G>A c.(1195-1197)Gac>Aac p.D399N GABRB2_ENST00000517547.1_Missense_Mutation_p.D201N|GABRB2_ENST00000393959.1_Missense_Mutation_p.D399N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D361N|GABRB2_ENST00000353437.6_Missense_Mutation_p.D361N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D298N NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 399 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCATGGGGGTCCATCTGCAAG 0.448000 4 58 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124692605 124692605 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:124692605G>A ENST00000311127.4 - 16 4033 c.3966C>T c.(3964-3966)aaC>aaT p.N1322N NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1322 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TCTGGAGGAGGTTTTTGGTAC 0.478000 4 47 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336563 126336563 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:126336563G>A ENST00000394329.3 + 5 6458 c.6445G>A c.(6445-6447)Gat>Aat p.D2149N FAT4_ENST00000335110.5_Missense_Mutation_p.D447N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2149 Cadherin 20. 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 TGACATCAATGATAACAACCC 0.378000 12 50 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777278 123777278 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123777278C>T ENST00000321355.2 + 1 170 c.140C>T c.(139-141)tCa>tTa p.S47L NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AGCATGATCTCAATTATTAGG 0.408000 11 98 0 0 1 0 0 GLUL 2752 broad.mit.edu 37 1 182357711 182357711 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:182357711C>T ENST00000311223.5 - 3 1058 c.162G>A c.(160-162)gtG>gtA p.V54V GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Silent_p.V54V|GLUL_ENST00000339526.4_Silent_p.V54V|GLUL_ENST00000331872.6_Silent_p.V54V NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 54 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TCTCACCTTCCACACACTTGG 0.567000 9 56 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270127 36270127 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36270127C>T ENST00000394571.2 + 6 1265 c.1265C>T c.(1264-1266)tCa>tTa p.S422L PNPLA1_ENST00000388715.3_Missense_Mutation_p.S327L|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S336L NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 422 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 GCACCCACTTCACCCAGGCCA 0.602000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 107 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81751997 81751997 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81751997C>T ENST00000550584.2 - 15 1933 c.e15-1 PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TAGATGAGTTCTGGAAAAAAG 0.373000 3 8 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38925311 38925311 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:38925311C>T ENST00000335552.4 - 6 1055 c.1007G>A c.(1006-1008)gGa>gAa p.G336E NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 336 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GCAGTAATTTCCTTCAGTCTC 0.413000 6 31 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 614007 614007 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:614007G>A ENST00000251287.2 + 7 2034 c.1981G>A c.(1981-1983)Gac>Aac p.D661N NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 661 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CGACCGCCTGGACCGCATCGG 0.701000 7 33 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10312264 10312264 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:10312264A>G ENST00000287652.4 + 4 2449 c.1398A>G c.(1396-1398)caA>caG p.Q466Q RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.Q466Q NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 466 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GAACATTCCAAGAGGAGATGC 0.532000 6 35 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428871 10428871 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10428871C>T ENST00000245503.5 - 32 4818 c.4434G>A c.(4432-4434)aaG>aaA p.K1478K MYH2_ENST00000397183.2_Silent_p.K1478K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1478 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AACGGGCCTCCTTCTGGGAGG 0.468000 6 47 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155212013 155212013 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:155212013C>T ENST00000460012.1 - 17 2366 c.2009G>A c.(2008-2010)gGa>gAa p.G670E PLCH1_ENST00000414191.1_Missense_Mutation_p.G670E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G670E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G688E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G688E|PLCH1_ENST00000447496.2_Missense_Mutation_p.G688E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 688 PI-PLC Y-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATCATTCGTCCTTCAGATTG 0.428000 8 56 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750118 234750118 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234750118G>A ENST00000411486.2 - 8 1373 c.1308C>T c.(1306-1308)atC>atT p.I436I HJURP_ENST00000432087.1_Silent_p.I382I|HJURP_ENST00000441687.1_Silent_p.I351I NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 436 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GATCAAATCGGATTTCAATCT 0.488000 14 91 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 92979436 92979436 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:92979436G>A ENST00000370331.1 - 18 2219 c.2210C>T c.(2209-2211)tCa>tTa p.S737L EVI5_ENST00000543509.1_Missense_Mutation_p.S748L|EVI5_ENST00000540033.1_Missense_Mutation_p.S737L NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 737 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GGAATGGAATGATTCATCATC 0.428000 5 47 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56370434 56370434 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56370434G>A ENST00000301295.6 + 3 2097 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K NLRP4_ENST00000346986.5_Missense_Mutation_p.E559K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E484K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 559 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTGTCTCTTTGAAATGCAGGA 0.473000 18 58 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641013 57641013 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57641013C>T ENST00000254181.4 + 4 1424 c.970C>T c.(970-972)Ccc>Tcc p.P324S USP29_ENST00000598197.1_Missense_Mutation_p.P324S NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 324 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAATATATTCCCTTTGAGGC 0.383000 12 52 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41410701 41410701 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:41410701T>A ENST00000551295.2 + 19 2519 c.2402T>A c.(2401-2403)aTt>aAt p.I801N CNTN1_ENST00000347616.1_Missense_Mutation_p.I801N|CNTN1_ENST00000348761.2_Missense_Mutation_p.I790N|CNTN1_ENST00000550305.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 801 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GTAGCAGTCATTAATTCAGCA 0.428000 4 54 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95658439 95658439 + Missense_Mutation SNP G G A rs34810012 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:95658439G>A ENST00000433389.2 + 4 609 c.419G>A c.(418-420)cGa>cAa p.R140Q ESRP1_ENST00000358397.5_Missense_Mutation_p.R140Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R140Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R140Q NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 140 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 TTTGATCTTCGAAAAGAATTC 0.358000 6 66 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018150 103018150 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103018150C>T ENST00000306312.3 - 18 2143 c.1882G>A c.(1882-1884)Gaa>Aaa p.E628K SLC26A5_ENST00000354356.4_Missense_Mutation_p.E61K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E591K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E596K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E628K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E596K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E598K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E630K NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 628 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CTTTGCATTTCCTCAGGAAAT 0.423000 4 66 0 0 1 0 0 FABP2 2169 broad.mit.edu 37 4 120240735 120240735 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:120240735C>T ENST00000274024.3 - 3 591 c.304G>A c.(304-306)Gaa>Aaa p.E102K NM_000134.3 NP_000125.2 P12104 FABPI_HUMAN fatty acid binding protein 2, intestinal 102 fatty acid binding p.E102K(1) breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 8 GTATTCAGTTCGTTTCCATTG 0.308000 6 39 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53580519 53580519 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:53580519G>A ENST00000371494.4 - 3 469 c.342C>T c.(340-342)atC>atT p.I114I RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.I114I NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 114 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) TGCCTGGGTGGATGATGGAGA 0.602000 11 28 0 0 1 0 0 SLC16A2 6567 broad.mit.edu 37 X 73740949 73740949 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73740949C>T ENST00000276033.5 + 2 943 c.777C>T c.(775-777)ctC>ctT p.L259L SLC16A2_ENST00000587091.1_Silent_p.L185L P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 185 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TCATTGGCCTCCATACCAGCT 0.498000 11 30 0 0 1 0 0 HGD 3081 broad.mit.edu 37 3 120369647 120369647 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:120369647G>A ENST00000283871.5 - 6 867 c.408C>T c.(406-408)ttC>ttT p.F136F NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 136 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TATTGCAGAGGAAAATGTGGA 0.483000 20 145 0 0 1 0 0 POTED 317754 broad.mit.edu 37 21 14983063 14983063 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:14983063G>A ENST00000299443.5 + 1 566 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 172 E -> Q. plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GAGGGACAAGGAAAAGAGGTA 0.577000 7 78 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332487 144332487 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144332487C>T ENST00000330701.4 + 2 843 c.474C>T c.(472-474)ctC>ctT p.L158L ZFP41_ENST00000522452.1_Silent_p.L158L|ZFP41_ENST00000520584.1_Silent_p.L158L NM_173832.3 NP_776193.1 Q8N8Y5 ZFP41_HUMAN ZFP41 zinc finger protein 158 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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) GCTCCAATCTCCTGAAACATC 0.562000 13 121 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113786564 113786564 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:113786564G>A ENST00000259213.4 - 4 320 c.213C>T c.(211-213)ctC>ctT p.L71L IL36B_ENST00000327407.2_Silent_p.L71L NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 71 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 AGAAGAGACAGAGATCTTTTC 0.413000 7 75 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69456258 69456258 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:69456258C>T ENST00000227507.2 + 1 404 c.177C>T c.(175-177)atC>atT p.I59I CCND1_ENST00000536559.1_Silent_p.I59I NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 59 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TGCGGAAGATCGTCGCCACCT 0.622000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 9 70 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63901459 63901459 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:63901459C>T ENST00000443617.2 - 78 14494 c.14407G>A c.(14407-14409)Gac>Aac p.D4803N NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4803 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGCAGACTGTCGTAAGGCTGT 0.607000 5 19 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26509198 26509198 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:26509198C>T ENST00000244513.6 + 7 1443 c.1377C>T c.(1375-1377)ttC>ttT p.F459F NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 459 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TCCGGCCCTTCTTTTGCCTAT 0.478000 10 72 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74936846 74936846 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:74936846C>T ENST00000569840.2 + 15 2338 c.1764C>T c.(1762-1764)ttC>ttT p.F588F MGAT5B_ENST00000301618.4_Silent_p.F586F|MGAT5B_ENST00000428789.2_Silent_p.F597F NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 588 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGGAGAACTTCATCGGCAAGC 0.552000 12 60 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65372892 65372892 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:65372892G>A ENST00000330909.8 - 15 2425 c.2426C>T c.(2425-2427)cCt>cTt p.P809L MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.P809L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 809 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CGCAGGTGAAGGTGACATAGC 0.378000 9 43 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21247841 21247841 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21247841C>T ENST00000233242.1 - 16 2527 c.2400G>A c.(2398-2400)ctG>ctA p.L800L APOB_ENST00000399256.4_Silent_p.L800L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 800 LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGGCACCCATCAGAAGCAGCT 0.582000 5 73 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96022469 96022469 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:96022469G>A ENST00000260766.3 + 14 4667 c.4033G>A c.(4033-4035)Gaa>Aaa p.E1345K PLCE1_ENST00000371375.1_Missense_Mutation_p.E1037K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1037K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E1345K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1345 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CACTTATGATGAAATCCTCAG 0.438000 17 80 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563715 140563715 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140563715C>T ENST00000361016.2 + 1 2736 c.1581C>T c.(1579-1581)ttC>ttT p.F527F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 527 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGGGAGTTCGAGTTCCGCG 0.687000 15 119 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394514 86394514 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:86394514G>A ENST00000361669.2 + 2 1152 c.53G>A c.(52-54)gGa>gAa p.G18E GRM3_ENST00000439827.1_Missense_Mutation_p.G18E|GRM3_ENST00000394720.2_Missense_Mutation_p.G16E|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 18 synaptic transmission integral to plasma membrane p.G18E(1) 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) TTTTCAAAGGGATTTTTACTC 0.398000 16 89 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159799774 159799774 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:159799774C>T ENST00000289707.5 + 2 308 c.159C>T c.(157-159)ctC>ctT p.L53L SLAMF8_ENST00000368104.4_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 53 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) GGCGATCTCTCTGGCCTTCAG 0.617000 20 224 0 0 1 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036565 13036565 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:13036565G>A ENST00000376187.1 + 2 637 c.637G>A c.(637-639)Gaa>Aaa p.E213K PRAMEF6_ENST00000376192.5_Intron NM_001100631.1 NP_001094101.1 A3QJZ6 PRA22_HUMAN PRAME family member 22 213 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 CCAAGTGTTGGAAATTTGGAA 0.423000 26 143 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754490 140754490 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140754490C>T ENST00000517434.1 + 1 840 c.840C>T c.(838-840)tcC>tcT p.S280S PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACTTATTCCTTTGTGAAGA 0.433000 6 28 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34517351 34517351 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:34517351G>A ENST00000242317.4 + 19 2058 c.1887G>A c.(1885-1887)aaG>aaA p.K629K NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 629 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CGGCCAAAAAGAACAGGCTCA 0.542000 Kartagener syndrome 3 23 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401369 34401369 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34401369G>A ENST00000373381.4 - 4 880 c.704C>T c.(703-705)tCc>tTc p.S235F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 195 CUB 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCTCTGCAGGAAGGCAGGGG 0.627000 12 24 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246729 7246729 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7246729G>A ENST00000158762.3 + 6 582 c.376G>A c.(376-378)Gat>Aat p.D126N ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 126 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GGCTCGCCGGGATTTCTGGCG 0.632000 12 84 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70954536 70954536 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:70954536C>T ENST00000393567.2 - 46 7893 c.7743G>A c.(7741-7743)tgG>tgA p.W2581* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2581 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGGCCTGCTTCCAGCTCAAGC 0.587000 4 31 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119149244 119149244 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:119149244T>A ENST00000264033.4 + 9 1628 c.1252T>A c.(1252-1254)Ttc>Atc p.F418I NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 418 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.G397_I429del(1)|p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GGGCTGTCCTTTCTGCCGATG 0.433000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 6 114 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179634791 179634791 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179634791C>T ENST00000589042.1 - 36 8861 c.8637G>A c.(8635-8637)gtG>gtA p.V2879V TTN_ENST00000460472.2_Silent_p.V2833V|TTN_ENST00000359218.5_Silent_p.V2833V|TTN_ENST00000591111.1_Silent_p.V2879V|TTN_ENST00000360870.5_Silent_p.V2879V|TTN_ENST00000342175.6_Silent_p.V2833V|TTN_ENST00000342992.6_Silent_p.V2879V|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2617 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) ACTTACTCTCCACAAACAGTT 0.438000 15 114 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948600 82948600 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:82948600C>T ENST00000274341.4 - 3 994 c.144G>A c.(142-144)aaG>aaA p.K48K HAPLN1_ENST00000514416.1_Silent_p.K48K NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 48 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GTGAAAACACCTTGGCTTGCT 0.363000 6 46 0 0 1 0 0 FKBP1B 2281 broad.mit.edu 37 2 24285927 24285927 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:24285927C>T ENST00000380991.4 + 4 386 c.237C>T c.(235-237)ccC>ccT p.P79P FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron P68106 FKB1B_HUMAN FK506 binding protein 1B, 12.6 kDa 0 PPIase FKBP-type. 'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state calcium channel complex|sarcoplasmic reticulum membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding lung(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCCCATCCCTGCTAGATGA 0.537000 4 38 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40255814 40255814 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40255814G>A ENST00000251642.3 - 12 1788 c.1566C>T c.(1564-1566)atC>atT p.I522I NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 522 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCAGATCCCGGATCTGGGGTG 0.602000 16 50 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24864927 24864927 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:24864927C>T ENST00000424834.2 + 11 3458 c.2985C>T c.(2983-2985)atC>atT p.I995I SPATA13_ENST00000382095.4_Silent_p.I370I|SPATA13_ENST00000399949.2_Silent_p.I292I|SPATA13_ENST00000382108.3_Silent_p.I995I|SPATA13_ENST00000343003.6_Silent_p.I314I|SPATA13_ENST00000409126.1_Silent_p.I230I Q96N96 SPT13_HUMAN spermatogenesis associated 13 370 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGATTGACATCGCCATCGACG 0.582000 8 49 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831036 61831036 + Silent SNP G G C rs150889156 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61831036G>C ENST00000280772.1 - 37 9794 c.9603C>G c.(9601-9603)ccC>ccG p.P3201P ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3201 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CAGAAACCTCGGGAATTGGGC 0.488000 10 63 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77808177 77808177 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:77808177G>A ENST00000216468.7 - 6 970 c.915C>T c.(913-915)ttC>ttT p.F305F NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 305 GOLD. transport integral to membrane p.F305F(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) AGGAGTTGTCGAACTTGAGCA 0.587000 13 66 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20805297 20805297 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:20805297G>A ENST00000298925.5 + 4 493 c.340G>A c.(340-342)Gaa>Aaa p.E114K NELL1_ENST00000532434.1_Missense_Mutation_p.E86K|NELL1_ENST00000357134.5_Missense_Mutation_p.E86K|NELL1_ENST00000325319.5_Missense_Mutation_p.E86K Q92832 NELL1_HUMAN NEL-like 1 (chicken) 86 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.E86*(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GAACAAGAGTGAATTCACCAT 0.443000 11 53 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115258669 115258669 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115258669A>G ENST00000369535.4 - 2 365 c.e2+1 NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTGGGCCTCACCTCTATGGT 0.463000 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 12 49 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902703 4902703 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4902703C>T ENST00000381781.2 - 1 176 c.177G>A c.(175-177)gtG>gtA p.V59V NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 59 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) AACCCCTTCCCACGAGCTCCA 0.507000 14 149 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102493494 102493494 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:102493494G>T ENST00000413150.2 + 23 2636 c.2581G>T c.(2581-2583)Ggc>Tgc p.G861C MAP4K4_ENST00000350198.4_Missense_Mutation_p.G865C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.G1027C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.G946C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.G979C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.G749C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.G986C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.G745C NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 946 Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TACAGAGAGTGGCCTGATGCT 0.468000 7 34 0.000673444 0.000676422 1 1 0 OR10J3 441911 broad.mit.edu 37 1 159283797 159283797 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:159283797G>A ENST00000332217.5 - 1 652 c.653C>T c.(652-654)tCc>tTc p.S218F NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 218 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) GAGGACATAGGAGATAAAGAC 0.502000 4 87 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510406 56510406 + Silent SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56510406G>C ENST00000302957.3 - 1 881 c.882C>G c.(880-882)acC>acG p.T294T NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GGTTGATCACGGTGTAGAACA 0.438000 5 72 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48692794 48692794 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:48692794G>A ENST00000544264.1 - 5 5055 c.4775C>T c.(4774-4776)cCa>cTa p.P1592L CELSR3_ENST00000164024.4_Missense_Mutation_p.P1592L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1592 Laminin G-like 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAAGCCCCCTGGAACTGTGGG 0.577000 6 41 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110439090 110439090 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:110439090C>T ENST00000519681.1 + 16 1636 c.1194C>T c.(1192-1194)ttC>ttT p.F398F PAK3_ENST00000372010.1_Silent_p.F392F|PAK3_ENST00000417227.1_Silent_p.F398F|PAK3_ENST00000262836.4_Silent_p.F392F|PAK3_ENST00000360648.4_Silent_p.F413F|PAK3_ENST00000372007.4_Silent_p.F377F|PAK3_ENST00000518291.1_Silent_p.F413F|PAK3_ENST00000446737.1_Silent_p.F377F|PAK3_ENST00000425146.1_Silent_p.F377F O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 392 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 CTTTGGATTTCCTGCACTCAA 0.323000 TSP Lung(19;0.15) 24 78 0 0 1 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289639 98289639 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:98289639G>A ENST00000322128.3 - 1 537 c.434C>T c.(433-435)gCc>gTc p.A145V NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 145 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) CTTCTTCCCGGCAGGGCCACG 0.662000 4 69 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123985890 123985890 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123985890G>A ENST00000369005.1 + 13 7958 c.7618G>A c.(7618-7620)Gat>Aat p.D2540N TACC2_ENST00000513429.1_Missense_Mutation_p.D686N|TACC2_ENST00000358010.1_Missense_Mutation_p.D686N|TACC2_ENST00000369000.1_Missense_Mutation_p.D240N|TACC2_ENST00000360561.3_Missense_Mutation_p.D618N|TACC2_ENST00000368999.1_Missense_Mutation_p.D630N|TACC2_ENST00000453444.2_Missense_Mutation_p.D2544N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2540N|TACC2_ENST00000260733.3_Missense_Mutation_p.D618N|TACC2_ENST00000369004.3_Missense_Mutation_p.D630N|TACC2_ENST00000515273.1_Missense_Mutation_p.D2544N|TACC2_ENST00000515603.1_Missense_Mutation_p.D2495N|TACC2_ENST00000369001.1_Missense_Mutation_p.D244N NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2540 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GCAGGACGACGATGCCCCGAA 0.532000 7 13 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416469 48416469 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48416469G>A ENST00000249598.1 - 1 384 c.225C>T c.(223-225)gtC>gtT p.V75V NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 75 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity p.V75V(1) breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CCTGCGAAGGGACCCCACTCA 0.562000 5 60 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45877286 45877286 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45877286C>T ENST00000291592.4 + 2 1076 c.759C>T c.(757-759)atC>atT p.I253I NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 253 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) AGGACCCCATCGGCCCGGGGC 0.642000 5 63 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864514 13864514 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13864514C>T ENST00000265104.4 - 28 4692 c.4588G>A c.(4588-4590)Gaa>Aaa p.E1530K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1530 Stem (By similarity). 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) ACCTCTATTTCCTCTTTATAT 0.383000 Kartagener syndrome 15 46 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72205040 72205040 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:72205040A>G ENST00000555818.1 + 21 5617 c.5269A>G c.(5269-5271)Aag>Gag p.K1757E SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K1735E|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K1736E|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.K1210E NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1757 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AGATTTGAAGAAGGTAAACAT 0.433000 3 43 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 114009649 114009649 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:114009649G>A ENST00000375430.4 - 3 375 c.329C>T c.(328-330)gCc>gTc p.A110V GRTP1_ENST00000326039.3_Missense_Mutation_p.A32V|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1_ENST00000375431.4_Missense_Mutation_p.A110V|GRTP1-AS1_ENST00000423246.1_RNA Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 110 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) TGTCCTGATGGCGTCCTCCAG 0.662000 18 72 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880368 74880368 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:74880368G>A ENST00000289575.5 + 5 994 c.599G>A c.(598-600)gGc>gAc p.G200D SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G56D|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G84D|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G178D NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 200 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) ACCCTGCTGGGCGTGGGCGGG 0.607000 4 63 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15508582 15508582 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:15508582C>T ENST00000341776.2 + 12 2987 c.2743C>T c.(2743-2745)Ccc>Tcc p.P915S JARID2_ENST00000397311.3_Missense_Mutation_p.P743S|JARID2_ENST00000541660.1_Missense_Mutation_p.P877S|JARID2_ENST00000474854.1_3'UTR NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 915 JmjC. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGTGACTATTCCCTGGCTAAA 0.408000 3 50 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5939209 5939209 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:5939209A>T ENST00000378896.3 + 7 1003 c.626A>T c.(625-627)aAt>aTt p.N209I MCM8_ENST00000265187.4_Missense_Mutation_p.N209I|MCM8_ENST00000378886.2_Missense_Mutation_p.N209I|MCM8_ENST00000378883.1_Missense_Mutation_p.N209I NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 209 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CAGCTCAAGAATGTCAGAGCA 0.358000 6 48 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68156101 68156101 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:68156101C>T ENST00000349223.5 + 2 539 c.315C>T c.(313-315)ccC>ccT p.P105P NFATC3_ENST00000575270.1_Silent_p.P105P|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.P105P|NFATC3_ENST00000329524.4_Silent_p.P105P NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 105 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GTCCCAAACCCTTTGAGTGCC 0.403000 4 73 0 0 1 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119222391 119222391 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:119222391C>T ENST00000494664.1 + 3 575 c.373C>T c.(373-375)Cgt>Tgt p.R125C TIMMDC1_ENST00000493694.1_Intron NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 125 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 ATCTGCACATCGTGCTGCCAC 0.413000 7 10 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20177352 20177352 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:20177352G>A ENST00000245957.5 + 16 1805 c.1729G>A c.(1729-1731)Gag>Aag p.E577K C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 577 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTTTCTGAAGGAGATCCTGCG 0.473000 5 56 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683851 71683851 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:71683851G>A ENST00000393524.2 - 17 3446 c.2713C>T c.(2713-2715)Ccg>Tcg p.P905S PHLPP2_ENST00000567016.1_Missense_Mutation_p.P1007S|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.P972S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.P972S|PHLPP2_ENST00000360429.3_Intron Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 972 PP2C-like. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 ATGGTCAGCGGAGTGGAAGAT 0.498000 8 65 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76374858 76374858 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:76374858G>A ENST00000357063.3 + 8 1917 c.657G>A c.(655-657)agG>agA p.R219R LMO7_ENST00000377534.3_Silent_p.R219R|LMO7_ENST00000526202.1_Silent_p.R128R|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Silent_p.R219R Q8WWI1 LMO7_HUMAN LIM domain 7 219 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) GAAGTGGCAGGGACAGTGGCT 0.403000 10 98 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169492555 169492555 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:169492555G>A ENST00000367796.3 - 21 6144 c.5943C>T c.(5941-5943)atC>atT p.I1981I F5_ENST00000367797.3_Silent_p.I1976I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1976 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTTGGGTCTGGATCCCTGTGA 0.448000 13 45 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577629 179577629 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179577629G>A ENST00000589042.1 - 94 27347 c.27123C>T c.(27121-27123)atC>atT p.I9041I TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.I8724I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.I7797I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8724 Ig-like 73. 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) TTCCTTTTACGATACTTGTGA 0.413000 4 21 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135279382 135279382 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:135279382C>T ENST00000285968.6 + 13 1944 c.1918C>T c.(1918-1920)Cct>Tct p.P640S NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 640 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CAGTATTCCCCCTGTCCTAAA 0.488000 7 77 0 0 1 0 0 PYROXD2 84795 broad.mit.edu 37 10 100152213 100152213 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:100152213G>A ENST00000370575.4 - 10 1086 c.1038C>T c.(1036-1038)atC>atT p.I346I PYROXD2_ENST00000483923.1_5'UTR NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 346 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 TCAGGAAGGTGATCTGCGGTG 0.542000 12 49 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836232 12836232 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12836232C>T ENST00000357726.4 + 2 861 c.834C>T c.(832-834)ttC>ttT p.F278F NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 278 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCTCTTTCCTCGAAGGCC 0.502000 33 126 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175649825 175649825 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:175649825G>A ENST00000274093.3 - 4 794 c.292C>T c.(292-294)Cgt>Tgt p.R98C GLRA3_ENST00000340217.5_Missense_Mutation_p.R98C|GLRA3_ENST00000436738.1_5'UTR NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 98 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.R98C(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CATTTCTGACGAAGAAAGATA 0.383000 7 26 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540336 55540336 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55540336C>T ENST00000220676.1 + 4 4042 c.3894C>T c.(3892-3894)ttC>ttT p.F1298F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1298 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGGCTTGTTTCCTAGGAGAGG 0.413000 16 130 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 5 71 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983821 51983821 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51983821G>A ENST00000396477.4 + 2 308 c.287G>A c.(286-288)aGa>aAa p.R96K CEACAM18_ENST00000451626.1_Missense_Mutation_p.R157K NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 157 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGAGTGAACAGAGAAGGCAGC 0.562000 5 59 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323742 41323742 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:41323742C>T ENST00000551295.2 + 7 758 c.641C>T c.(640-642)tCc>tTc p.S214F CNTN1_ENST00000547702.1_Missense_Mutation_p.S214F|CNTN1_ENST00000347616.1_Missense_Mutation_p.S214F|CNTN1_ENST00000348761.2_Missense_Mutation_p.S203F|CNTN1_ENST00000547849.1_Missense_Mutation_p.S214F|CNTN1_ENST00000360099.3_Missense_Mutation_p.S214F NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 214 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGCTTTGTTTCCAGTCCTTCT 0.393000 13 133 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15742453 15742453 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:15742453C>T ENST00000281171.4 + 25 3805 c.3475C>T c.(3475-3477)Cat>Tat p.H1159Y PTPRO_ENST00000348962.2_Missense_Mutation_p.H1131Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H320Y|PTPRO_ENST00000442921.2_Missense_Mutation_p.H348Y|PTPRO_ENST00000542557.1_Missense_Mutation_p.H320Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H348Y NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1159 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CATTCGGGATCATGAGTTTGT 0.443000 6 88 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140223159 140223159 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:140223159C>T ENST00000275884.6 - 16 3030 c.2613G>A c.(2611-2613)caG>caA p.Q871Q DENND2A_ENST00000537639.1_Silent_p.Q871Q|DENND2A_ENST00000496613.1_Silent_p.Q871Q Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 871 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GCTCGTTCCTCTGTTCCAGAA 0.597000 5 91 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155203356 155203356 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:155203356C>T ENST00000460012.1 - 22 3030 c.2673G>A c.(2671-2673)agG>agA p.R891R PLCH1_ENST00000414191.1_Silent_p.R891R|PLCH1_ENST00000334686.6_Silent_p.R891R|PLCH1_ENST00000494598.1_Silent_p.R909R|PLCH1_ENST00000340059.7_Silent_p.R929R|PLCH1_ENST00000447496.2_Silent_p.R929R Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 929 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGCTCTTTTTCCTGCCTTTGG 0.498000 19 69 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35046335 35046335 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:35046335G>A ENST00000360359.3 + 14 2323 c.2184_splice c.e14-1 p.G729_splice ANKS1A_ENST00000535627.1_Intron|ANKS1A_ENST00000470698.1_3'UTR NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 729 SAM 1. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGCTCTCAGGGGTCTAATGT 0.637000 16 121 0 0 1 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671009 51671009 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51671009C>T ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA CTCGGTGATCCCTCAAGGAAC 0.522000 4 25 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436605 10436605 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10436605C>T ENST00000245503.5 - 21 2822 c.2438G>A c.(2437-2439)aGa>aAa p.R813K MYH2_ENST00000397183.2_Missense_Mutation_p.R813K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 813 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTATACCTTCTCTCCACCAT 0.433000 10 65 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188430 152188430 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152188430C>T ENST00000368801.2 - 3 5750 c.5675G>A c.(5674-5676)gGt>gAt p.G1892D FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1892 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGGAGTGACCTGAGCCAGA 0.537000 42 601 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120876795 120876795 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:120876795G>A ENST00000310396.5 + 17 2550 c.2083G>A c.(2083-2085)Gaa>Aaa p.E695K CPED1_ENST00000423795.1_Missense_Mutation_p.E475K|CPED1_ENST00000450913.2_Missense_Mutation_p.E695K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TCATCCAGAGGAAACCTGTGG 0.333000 13 61 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66937343 66937343 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:66937343G>A ENST00000374690.3 + 5 2721 c.2197G>A c.(2197-2199)Gac>Aac p.D733N AR_ENST00000396043.2_Missense_Mutation_p.D201N|AR_ENST00000396044.3_Intron NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 732 Interaction with MYST2.|Ligand-binding. Q -> H (in PAIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ACACGTGGACGACCAGATGGC 0.557000 Androgen Insensitivity Syndrome 6 29 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148712107 148712107 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:148712107G>A ENST00000286091.4 - 4 735 c.503C>T c.(502-504)tCc>tTc p.S168F NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 168 Thioredoxin 1.|Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GTCGGGCTGGGAGACTTCTCT 0.493000 5 45 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21260045 21260045 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21260045C>A ENST00000233242.1 - 6 747 c.620G>T c.(619-621)aGa>aTa p.R207I APOB_ENST00000399256.4_Missense_Mutation_p.R207I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 207 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCCAGGTCTCTTTCAGTGGA 0.517000 3 23 0.004672 0.0046897 1 1 0 EFCAB6 64800 broad.mit.edu 37 22 44004410 44004410 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:44004410C>T ENST00000262726.7 - 22 2886 c.2633G>A c.(2632-2634)gGt>gAt p.G878D EFCAB6_ENST00000396231.2_Missense_Mutation_p.G726D NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 878 EF-hand 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AATATCAAAACCGTACAGTGC 0.448000 4 41 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72827914 72827914 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:72827914C>T ENST00000268489.5 - 9 9339 c.8667G>A c.(8665-8667)cgG>cgA p.R2889R ZFHX3_ENST00000397992.5_Silent_p.R1975R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2889 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CAGATGACAACCGATCTTCAT 0.493000 14 40 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132516578 132516578 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:132516578C>T ENST00000333577.4 + 31 6052 c.5943C>T c.(5941-5943)aaC>aaT p.N1981N EP400_ENST00000389561.2_Silent_p.N1945N|EP400_ENST00000389562.2_Silent_p.N1944N|EP400_ENST00000332482.4_Silent_p.N1908N|EP400_ENST00000330386.6_Silent_p.N1864N Q96L91 EP400_HUMAN E1A binding protein p400 1981 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGGTATAAACCTTGTAGAGG 0.473000 21 120 0 0 1 0 0 DEFB115 245929 broad.mit.edu 37 20 29847306 29847306 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:29847306G>A ENST00000400552.1 + 2 138 c.138G>A c.(136-138)agG>agA p.R46R NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 46 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) GCAGATGCAGGAAATCATGCA 0.328000 8 31 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53009963 53009963 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53009963C>T ENST00000305748.3 - 2 683 c.649G>A c.(649-651)Gac>Aac p.D217N NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 217 Coil 1B.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TTCTTGTAGTCCTCCACCACT 0.627000 14 84 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57333108 57333108 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57333108C>T ENST00000326441.9 - 7 943 c.580G>A c.(580-582)Gat>Aat p.D194N ZIM2_ENST00000391708.3_Missense_Mutation_p.D69N|ZIM2_ENST00000221722.5_Missense_Mutation_p.D69N|PEG3_ENST00000598410.1_Missense_Mutation_p.D69N|PEG3_ENST00000593695.1_Missense_Mutation_p.D68N|ZIM2_ENST00000593711.1_Missense_Mutation_p.D69N|PEG3_ENST00000423103.2_Missense_Mutation_p.D194N|ZIM2_ENST00000599935.1_Missense_Mutation_p.D69N|ZIM2_ENST00000601070.1_Missense_Mutation_p.D69N NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 194 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) AGGGAAAGATCCCGCGGAGGC 0.547000 14 140 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30627832 30627832 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30627832G>A ENST00000376442.3 - 10 1927 c.1732C>T c.(1732-1734)Cct>Tct p.P578S DHX16_ENST00000376437.5_Missense_Mutation_p.P97S|DHX16_ENST00000480966.1_5'UTR NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 578 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 ATGTCCACAGGAAACCTGCGT 0.552000 8 164 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411015 5411015 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5411015G>A ENST00000328611.3 + 1 409 c.387G>A c.(385-387)atG>atA p.M129I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 129 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTCCTCATGATGTCCTTTG 0.488000 42 234 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121838367 121838367 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121838367G>A ENST00000330540.2 + 7 1092 c.976G>A c.(976-978)Gat>Aat p.D326N CD86_ENST00000493101.1_Missense_Mutation_p.D214N|CD86_ENST00000393627.2_Missense_Mutation_p.D320N|CD86_ENST00000264468.5_Missense_Mutation_p.D113N|CD86_ENST00000469710.1_Missense_Mutation_p.D244N NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 326 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding p.D326N(1) breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CGACAAAAGTGATACATGTTT 0.343000 11 36 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731165 92731165 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92731165G>A ENST00000379958.2 - 3 4515 c.4246C>T c.(4246-4248)Cga>Tga p.R1416* NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1416 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AAGACTTCTCGAAGCTGATCT 0.373000 9 145 0 0 1 0 0 RAPSN 5913 broad.mit.edu 37 11 47470502 47470502 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:47470502C>T ENST00000298854.2 - 1 228 c.15G>A c.(13-15)caG>caA p.Q5Q RAPSN_ENST00000352508.3_Silent_p.Q5Q|RAPSN_ENST00000529341.1_Silent_p.Q5Q|RAPSN_ENST00000524487.1_Silent_p.Q5Q NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 5 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 GCTGCTTGGTCTGGTCCTGCC 0.612000 15 109 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091592 16091592 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16091592G>A ENST00000375766.3 + 3 754 c.114G>A c.(112-114)cgG>cgA p.R38R FBLIM1_ENST00000441801.2_Silent_p.R38R|FBLIM1_ENST00000375771.1_Silent_p.R38R|FBLIM1_ENST00000400773.1_Silent_p.R38R|FBLIM1_ENST00000332305.5_Silent_p.R38R NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 38 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) GTGAGGCCCGGCGTGGCCGCC 0.692000 21 63 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34513170 34513170 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:34513170A>T ENST00000242317.4 + 16 1721 c.1550A>T c.(1549-1551)gAg>gTg p.E517V NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 517 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GTGGGCACAGAGGAGGGAAAA 0.527000 Kartagener syndrome 8 85 0 0 1 0 0 FOXI1 2299 broad.mit.edu 37 5 169535378 169535378 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:169535378C>T ENST00000449804.2 + 2 660 c.615C>T c.(613-615)gtC>gtT p.V205V FOXI1_ENST00000306268.6_Silent_p.V300V NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 300 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCCCTTGGTCACACCAGGAC 0.627000 Pendred syndrome 7 51 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370109 126370109 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:126370109C>T ENST00000394329.3 + 9 7951 c.7938C>T c.(7936-7938)ttC>ttT p.F2646F FAT4_ENST00000335110.5_Silent_p.F944F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2646 Cadherin 25. 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 acggtggtttccctcctttct 0.368000 4 39 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67748493 67748493 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:67748493G>A ENST00000433211.1 - 16 2396 c.2222C>T c.(2221-2223)tCa>tTa p.S741L CTNNA3_ENST00000373735.1_Missense_Mutation_p.S80L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S741L NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 741 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CCTTGATCCTGATTCTGATAT 0.388000 6 71 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733682 152733682 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152733682G>A ENST00000368773.1 + 2 1676 c.1618G>A c.(1618-1620)Gag>Aag p.E540K KPRP_ENST00000606109.1_Missense_Mutation_p.E540K NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 540 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGGGGCAAGAGAGTGGTGC 0.577000 11 57 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100211879 100211879 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:100211879C>T ENST00000524871.1 + 23 3262 c.2972C>T c.(2971-2973)tCt>tTt p.S991F CNTN5_ENST00000418526.2_Missense_Mutation_p.S917F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S991F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S991F|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 991 Fibronectin type-III 4. 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) TCTCAGGTTTCTCTGGGCTGG 0.448000 31 79 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404270 197404270 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197404270C>T ENST00000367397.1 + 5 2278 c.1420C>T c.(1420-1422)Ctg>Ttg p.L474L CRB1_ENST00000535699.1_Silent_p.L1069L|CRB1_ENST00000367400.3_Silent_p.L1093L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.L574L|CRB1_ENST00000367399.2_Silent_p.L981L P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1093 EGF-like 11. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TATAAAGGGCCTGCAAGGGTG 0.373000 6 49 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255101 9255101 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:9255101C>T ENST00000383440.2 + 8 2024 c.1767C>T c.(1765-1767)ttC>ttT p.F589F ANKRD12_ENST00000400020.3_Silent_p.F589F|ANKRD12_ENST00000262126.3_Silent_p.F612F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 612 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AGAAAGATTTCCACTTAGAAT 0.308000 11 34 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183020 140183020 + Silent SNP G G A rs150112751 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140183020G>A ENST00000522353.2 + 1 2238 c.2238G>A c.(2236-2238)ggG>ggA p.G746G PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.G746G NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGTGGGGAGCTGGTCAT 0.637000 8 96 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34076690 34076690 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34076690G>A ENST00000373381.4 - 41 6470 c.6294C>T c.(6292-6294)ttC>ttT p.F2098F CSMD2_ENST00000373380.1_Silent_p.F971F|CSMD2_ENST00000373388.2_Silent_p.F197F|CSMD2_ENST00000373377.1_Silent_p.F197F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2058 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTCGCTGTGGAAATACACGG 0.557000 3 34 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67356917 67356917 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:67356917C>T ENST00000396623.3 + 5 318 c.287C>T c.(286-288)tCc>tTc p.S96F ADHFE1_ENST00000379385.4_Missense_Mutation_p.S96F|ADHFE1_ENST00000415254.1_Missense_Mutation_p.S48F|ADHFE1_ENST00000496501.1_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 96 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCTATGGATTCCCTAGTGAAG 0.403000 17 181 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105765477 105765477 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:105765477C>T ENST00000374798.3 + 3 182 c.112C>T c.(112-114)Ccc>Tcc p.P38S CYLC2_ENST00000487798.1_Missense_Mutation_p.P38S NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 38 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CCTGTTATTTCCCAAACCACA 0.368000 6 55 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322528 134322528 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:134322528C>T ENST00000508956.1 - 10 1873 c.1816G>A c.(1816-1818)Gga>Aga p.G606R KY_ENST00000423778.2_Missense_Mutation_p.G627R|KY_ENST00000503669.1_3'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 0 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 CTGCAGCTTCCCTCCCAGTAG 0.517000 28 98 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119941127 119941127 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:119941127C>T ENST00000297350.4 - 3 820 c.442G>A c.(442-444)Ggg>Agg p.G148R NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 148 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GAGAAGAACCCATCTGGACAT 0.428000 10 59 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186848 47186848 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:47186848G>A ENST00000447411.1 - 2 213 c.7C>T c.(7-9)Ccc>Tcc p.P3S SLC38A4_ENST00000266579.4_Missense_Mutation_p.P3S NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 3 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) AGTTCCATGGGATCCATTTGA 0.443000 8 89 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71417914 71417914 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:71417914C>T ENST00000302628.4 + 7 596 c.519C>T c.(517-519)ctC>ctT p.L173L CALB2_ENST00000349553.5_Silent_p.L173L NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 173 EF-hand 4. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) AATTGGGCCTCTCAGAGATGT 0.527000 10 96 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115348067 115348067 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:115348067C>T ENST00000351270.3 + 13 1718 c.1622C>T c.(1621-1623)aCc>aTc p.T541I HABP2_ENST00000542051.1_Missense_Mutation_p.T515I NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 541 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GGGGTCTACACCCAAGTTACC 0.542000 6 71 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64165346 64165346 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:64165346G>A ENST00000247225.6 - 2 809 c.715C>T c.(715-717)Ccc>Tcc p.P239S NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 239 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) CACCAGCAGGGAATAAGAATC 0.289000 7 36 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84525026 84525026 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:84525026G>A ENST00000360700.4 + 9 2006 c.1120G>A c.(1120-1122)Gca>Aca p.A374T ZNF711_ENST00000542798.1_Missense_Mutation_p.A170T|ZNF711_ENST00000276123.3_Missense_Mutation_p.A328T|ZNF711_ENST00000373165.3_Missense_Mutation_p.A328T|ZNF711_ENST00000395402.1_Missense_Mutation_p.A336T Q9Y462 ZN711_HUMAN zinc finger protein 711 328 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TTTGGACTCAGCATTAGAAAG 0.318000 4 41 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40979842 40979842 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:40979842A>G ENST00000313164.9 + 17 2540 c.2181A>G c.(2179-2181)gtA>gtG p.V727V C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 727 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CCTTGGATGTATGTGCTCAAG 0.393000 5 42 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95680313 95680313 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:95680313G>A ENST00000433389.2 + 10 1258 c.1068G>A c.(1066-1068)aaG>aaA p.K356K ESRP1_ENST00000358397.5_Silent_p.K356K|ESRP1_ENST00000423620.2_Silent_p.K356K|ESRP1_ENST00000454170.2_Silent_p.K356K NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 356 RRM 2. 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 CTGGGGGAAAGGAAGGCATCC 0.527000 11 73 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144944962 144944962 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144944962G>A ENST00000525985.1 - 2 2531 c.2460C>T c.(2458-2460)tcC>tcT p.S820S P58107 EPIPL_HUMAN epiplakin 1 820 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CATACTTCACGGAGAGCAGCA 0.647000 3 26 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814458 123814458 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123814458C>T ENST00000321252.2 - 1 122 c.88G>A c.(88-90)Ggg>Agg p.G30R NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 30 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) ACCATTAACCCCAGGAACACC 0.483000 19 99 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971566 79971566 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:79971566G>A ENST00000466387.1 + 7 880 c.156G>A c.(154-156)ggG>ggA p.G52G CTNNA2_ENST00000402739.4_Silent_p.G52G|CTNNA2_ENST00000540488.1_Silent_p.G52G|CTNNA2_ENST00000361291.4_Silent_p.G86G|CTNNA2_ENST00000496558.1_Silent_p.G52G|CTNNA2_ENST00000541047.1_Silent_p.G52G P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 52 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 AAAAGAAAGGGAGGTCAAAGA 0.413000 7 39 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712524 121712524 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121712524G>A ENST00000273691.3 - 6 1045 c.940C>T c.(940-942)Ccc>Tcc p.P314S ILDR1_ENST00000344209.5_Missense_Mutation_p.P358S|ILDR1_ENST00000393631.1_Missense_Mutation_p.P269S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.P326S NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 358 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GGCCTGGAGGGAATTGGGGTG 0.602000 5 52 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031971 26031971 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:26031971C>T ENST00000244661.2 - 1 317 c.318G>A c.(316-318)gaG>gaA p.E106E NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GGTTTGTGTCCTCAAAGAGCC 0.532000 19 69 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956392 128956392 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:128956392G>A ENST00000274487.4 + 9 1687 c.1542G>A c.(1540-1542)caG>caA p.Q514Q CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 514 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TTAAAGGACAGAATCTTGGTG 0.393000 13 102 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37534656 37534656 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:37534656C>T ENST00000299824.1 + 7 930 c.741C>T c.(739-741)ctC>ctT p.L247L PPP1R16B_ENST00000373331.2_Intron NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 247 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAGCTGAGCTCCTCCTGGACC 0.597000 7 68 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69772846 69772846 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:69772846C>T ENST00000370598.1 + 16 3175 c.2354C>T c.(2353-2355)tCc>tTc p.S785F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 785 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GTCATTAATTCCAAAATCATC 0.358000 7 36 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36636769 36636769 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:36636769C>T ENST00000316156.4 + 2 697 c.244C>T c.(244-246)Ccg>Tcg p.P82S MAP7D1_ENST00000373150.4_Missense_Mutation_p.P82S|MAP7D1_ENST00000373151.2_Missense_Mutation_p.P82S Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 82 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCAGCCCCCCCGCAGGAAGA 0.657000 36 99 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114823345 114823345 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:114823345G>A ENST00000310346.4 - 7 1357 c.691C>T c.(691-693)Ccc>Tcc p.P231S TBX5_ENST00000405440.2_Missense_Mutation_p.P231S|TBX5_ENST00000526441.1_Missense_Mutation_p.P231S|TBX5_ENST00000349716.5_Missense_Mutation_p.P181S NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 231 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTGGCAAAGGGATTATTCTCA 0.453000 4 36 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183635329 183635329 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:183635329G>A ENST00000511685.1 + 13 2434 c.2311G>A c.(2311-2313)Gca>Aca p.A771T TENM3_ENST00000406950.2_Missense_Mutation_p.A771T|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 ATGGAGAGGAGCAGGCTGTGA 0.517000 5 34 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179415913 179415913 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179415913C>T ENST00000589042.1 - 336 91569 c.91345G>A c.(91345-91347)Gat>Aat p.D30449N TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21384N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21509N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D28808N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21576N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27881N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28808 Ig-like 137. 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) CTGCCTCCATCACGCAATGGT 0.453000 7 31 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50701519 50701519 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:50701519G>A ENST00000361387.2 - 9 1575 c.1515C>T c.(1513-1515)tcC>tcT p.S505S ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.S286S NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CGGCCGCGCTGGAGCAGGAGT 0.672000 14 85 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711611 155711611 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:155711611G>A ENST00000295101.2 + 3 1769 c.1292G>A c.(1291-1293)gGa>gAa p.G431E NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 431 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) TACAGCTTGGGAGACTTGCCC 0.408000 14 85 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833289 168833289 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:168833289G>A ENST00000464456.1 - 7 3007 c.1807C>T c.(1807-1809)Cct>Tct p.P603S MECOM_ENST00000494292.1_Missense_Mutation_p.P791S|MECOM_ENST00000460814.1_Missense_Mutation_p.P603S|MECOM_ENST00000392736.3_Missense_Mutation_p.P603S|MECOM_ENST00000264674.3_Missense_Mutation_p.P668S|MECOM_ENST00000472280.1_Missense_Mutation_p.P604S|MECOM_ENST00000468789.1_Missense_Mutation_p.P603S|MECOM_ENST00000433243.2_Missense_Mutation_p.P604S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 12 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTTTTTCGAGGCTCAGTCAGC 0.527000 7 49 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278137 36278137 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36278137C>T ENST00000007510.4 + 21 2814 c.2670C>T c.(2668-2670)ccC>ccT p.P890P ARHGAP33_ENST00000314737.5_Silent_p.P729P|ARHGAP33_ENST00000378944.5_Silent_p.P754P O14559 RHG33_HUMAN Rho GTPase activating protein 33 890 Poly-Pro. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GTGCCCCACCCCCGCCCCCTA 0.662000 11 42 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1264431 1264431 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:1264431G>A ENST00000264335.8 - 4 800 c.533C>T c.(532-534)tCc>tTc p.S178F YWHAE_ENST00000571732.1_Missense_Mutation_p.S156F|YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000573026.1_Intron NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 178 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) GTAGAATACGGAAAAATTGAG 0.483000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 14 82 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264085 1264085 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1264085G>A ENST00000447027.1 + 31 6042 c.5984G>A c.(5983-5985)tGg>tAg p.W1995* RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.W1992* Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1992 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|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) GGCACCACCTGGACCCGCCTA 0.637000 14 275 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88583119 88583119 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:88583119G>A ENST00000418177.2 - 3 1233 c.866C>T c.(865-867)gCc>gTc p.A289V GRM5_ENST00000455756.2_Missense_Mutation_p.A289V|GRM5_ENST00000305447.4_Missense_Mutation_p.A289V|GRM5_ENST00000305432.5_Missense_Mutation_p.A289V|GRM5_ENST00000393297.1_Missense_Mutation_p.A289V P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 289 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCGCCTCATGGCCATCAGCAG 0.517000 8 51 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74524979 74524979 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:74524979G>A ENST00000422840.2 - 8 1368 c.1369C>T c.(1369-1371)Cga>Tga p.R457* GLG1_ENST00000447066.2_Nonsense_Mutation_p.R446*|GLG1_ENST00000205061.5_Nonsense_Mutation_p.R457* NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 457 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CGCCCTTTTCGATGTAATCCG 0.507000 9 83 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440872 124440872 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124440872C>T ENST00000284287.3 + 1 980 c.908C>T c.(907-909)cCc>cTc p.P303L NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ATGTTGAATCCCCTAATCTAC 0.443000 9 40 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518068 113518068 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:113518068C>T ENST00000284601.3 - 4 3147 c.3079G>A c.(3079-3081)Gaa>Aaa p.E1027K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1027 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCTTCATTTTCATGCCTTGCT 0.398000 10 161 0 0 1 0 0 KAAG1 353219 broad.mit.edu 37 6 24358098 24358098 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:24358098G>A ENST00000274766.1 + 1 968 c.231G>A c.(229-231)acG>acA p.T77T DCDC2_ENST00000378454.3_5'UTR NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 77 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 AGAAACTGACGAATCCACAGG 0.617000 3 34 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066818 18066818 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:18066818C>T ENST00000506618.2 - 1 668 c.588G>A c.(586-588)cgG>cgA p.R196R NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 196 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) TGGCCTTCTTCCGTTCTTTAT 0.448000 12 79 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39550277 39550277 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39550277G>A ENST00000251645.2 - 7 1294 c.1242C>T c.(1240-1242)ttC>ttT p.F414F NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 414 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TCTAGCGCACGAAGGAATTGC 0.612000 11 43 0 0 1 0 0 C1orf111 284680 broad.mit.edu 37 1 162345159 162345159 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:162345159G>A ENST00000367935.4 - 2 217 c.138C>T c.(136-138)tcC>tcT p.S46S C1orf111_ENST00000493255.1_Intron|RP11-565P22.6_ENST00000431696.1_Intron NM_182581.3 NP_872387.2 Q5T0L3 CA111_HUMAN chromosome 1 open reading frame 111 46 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) GAGCTGGGCTGGATGCCTCAG 0.542000 15 81 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88703313 88703313 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:88703313C>T ENST00000372027.4 - 6 1301 c.1228G>A c.(1228-1230)Gat>Aat p.D410N NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 410 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TTGATCTCATCCACGTGCCGG 0.602000 9 70 0 0 1 0 0 ALG5 29880 broad.mit.edu 37 13 37569619 37569619 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:37569619C>G ENST00000239891.3 - 2 247 c.181G>C c.(181-183)Gac>Cac p.D61H ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000413537.2_Missense_Mutation_p.D61H|ALG5_ENST00000443765.1_Missense_Mutation_p.D61H NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 61 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) GTAGGTGAGTCCCATATGCTG 0.388000 12 59 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73070128 73070128 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73070128G>A ENST00000429829.1 - 0 2460 NR_001564.2 AAAGGTTAAGGAATTTGTAAT 0.264000 3 8 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849040 73849040 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:73849040G>A ENST00000523207.1 + 3 2038 c.1450G>A c.(1450-1452)Gat>Aat p.D484N NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 484 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) CTCCGCCGACGATAATCACCT 0.512000 8 99 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42711403 42711403 + Missense_Mutation SNP G G A rs45590635 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:42711403G>A ENST00000230882.4 + 7 903 c.713G>A c.(712-714)gGa>gAa p.G238E GHR_ENST00000537449.1_Missense_Mutation_p.G51E|GHR_ENST00000357703.3_Missense_Mutation_p.G216E NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 238 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CGAAACTCTGGAAATTATGGC 0.373000 11 135 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190569915 190569915 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:190569915G>A ENST00000520309.1 + 8 1963 c.1875G>A c.(1873-1875)aaG>aaA p.K625K ANKAR_ENST00000431575.2_Silent_p.K554K|ANKAR_ENST00000281412.6_Silent_p.K389K|ANKAR_ENST00000438402.2_Silent_p.K625K|ANKAR_ENST00000313581.4_Silent_p.K625K NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 625 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) TCTGTAGGAAGGATCCTAGTT 0.398000 12 90 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826148 43826148 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:43826148C>T ENST00000389420.3 - 21 3054 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E1019K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E173K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1019 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CAGGAAAATTCATTGCAATTC 0.403000 8 39 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35658311 35658311 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:35658311C>T ENST00000357214.5 - 1 438 c.340G>A c.(340-342)Gga>Aga p.G114R NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 114 Gln/Glu/Pro-rich. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGGCCGGGTCCCTGAGCAACG 0.761000 T TFE3 papillary renal cell 4 7 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117239222 117239222 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117239222C>T ENST00000332958.2 + 10 1011 c.995C>T c.(994-996)cCt>cTt p.P332L RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 332 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GTACTCATTCCTGCAACAATG 0.289000 7 63 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30058624 30058624 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:30058624G>A ENST00000222803.5 - 3 640 c.465C>T c.(463-465)ctC>ctT p.L155L AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 155 EF-hand 1. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 CATCTTTAGAGAGTTTCCAGT 0.348000 6 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063570 9063570 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9063570C>T ENST00000397910.4 - 3 24079 c.23876G>A c.(23875-23877)tGg>tAg p.W7959* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7961 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGCTCATCCATGATACATC 0.458000 11 34 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121743988 121743988 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:121743988G>A ENST00000452319.1 + 13 2151 c.2091G>A c.(2089-2091)ctG>ctA p.L697L GLI2_ENST00000361492.4_Silent_p.L697L|GLI2_ENST00000314490.11_Silent_p.L369L|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 697 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGACGGCACTGGATGACACAC 0.692000 5 36 0 0 1 0 0 TNNC1 7134 broad.mit.edu 37 3 52485318 52485318 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:52485318G>A ENST00000232975.3 - 6 513 c.459C>T c.(457-459)ttC>ttT p.F153F NM_003280.2 NP_003271.1 P63316 TNNC1_HUMAN troponin C type 1 (slow) 153 EF-hand 4. cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) TGAACTCCAGGAACTCTGTGG 0.607000 6 40 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532136 42532136 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:42532136G>A ENST00000282030.5 + 4 3127 c.2831G>A c.(2830-2832)aGc>aAc p.S944N NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 944 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAACGGAAAAGCCTGCAAAAC 0.512000 Schinzel-Giedion syndrome 9 47 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120979942 120979942 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:120979942C>T ENST00000392793.1 + 4 492 c.221C>T c.(220-222)tCc>tTc p.S74F TECTA_ENST00000264037.2_Missense_Mutation_p.S74F O75443 TECTA_HUMAN tectorin alpha 74 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGAGTTGTTTCCTTCAATGTG 0.458000 3 31 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157997882 157997882 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:157997882C>T ENST00000389413.3 - 4 464 c.361G>A c.(361-363)Gaa>Aaa p.E121K PTPRN2_ENST00000409483.1_Missense_Mutation_p.E83K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E121K|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E144K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E104K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 121 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGGATGCTTCAGGACGCCTC 0.488000 21 34 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167802322 167802322 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:167802322G>A ENST00000367848.1 - 25 3717 c.3220C>T c.(3220-3222)Cct>Tct p.P1074S ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013S|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1166 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAGTTGTAAGGAAAGATTCGG 0.478000 22 249 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809573 5809573 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5809573A>G ENST00000317078.1 - 1 473 c.474T>C c.(472-474)gtT>gtC p.V158V TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGGAAGGGATAACAAGCATCA 0.502000 5 40 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054151 67054151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:67054151C>T ENST00000295568.4 + 3 813 c.682C>T c.(682-684)Cca>Tca p.P228S KBTBD8_ENST00000417314.2_Missense_Mutation_p.P254S|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 254 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AGAGAAAATTCCACCTCAGTT 0.413000 10 72 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189875434 189875434 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:189875434C>T ENST00000304636.3 + 50 4242 c.4072C>T c.(4072-4074)Cga>Tga p.R1358* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R1055* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1358 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGCATTCCTTCGACTTCTCTC 0.428000 7 97 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153655925 153655925 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:153655925G>A ENST00000368680.3 + 6 1809 c.1337G>A c.(1336-1338)gGg>gAg p.G446E NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 446 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) TGGCCCCTGGGGTACCCTCCT 0.577000 4 59 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568147 159568147 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:159568147C>T ENST00000307765.5 + 16 1801 c.1550C>T c.(1549-1551)cCt>cTt p.P517L RXFP1_ENST00000343542.5_Missense_Mutation_p.P469L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P436L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412L NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 517 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATTGTCTATCCTTTTAGATGT 0.363000 6 45 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676019 7676019 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:7676019C>T ENST00000446248.2 + 11 1270 c.1169C>T c.(1168-1170)tCt>tTt p.S390F CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S363F NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 363 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CTTCTGTCATCTGGTGGCCCC 0.662000 10 73 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150840191 150840191 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150840191T>A ENST00000370357.4 + 13 1622 c.1377T>A c.(1375-1377)tcT>tcA p.S459S NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 459 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GTGGTTTATCTTTATCCAACT 0.488000 23 52 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50540483 50540483 + Missense_Mutation SNP G G A rs143418383 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:50540483G>A ENST00000267845.3 - 10 1501 c.1099C>T c.(1099-1101)Cgg>Tgg p.R367W HDC_ENST00000543581.1_Intron NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 367 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCGAAGGACCGAATCACGAAC 0.522000 7 27 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167034821 167034821 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:167034821G>A ENST00000392766.2 - 14 1506 c.1166C>T c.(1165-1167)cCa>cTa p.P389L ZBBX_ENST00000392767.2_Missense_Mutation_p.P389L|ZBBX_ENST00000307529.5_Missense_Mutation_p.P389L|ZBBX_ENST00000455345.2_Missense_Mutation_p.P389L|ZBBX_ENST00000392764.1_Missense_Mutation_p.P360L|ZBBX_ENST00000469220.1_5'UTR NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 389 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CTTTAGAGATGGTTCAGGTCT 0.348000 6 56 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994303 45994303 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45994303C>T ENST00000400374.3 + 1 698 c.668C>T c.(667-669)tCc>tTc p.S223F TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 223 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 ACCTCCTCCTCCTGCCAGCAG 0.637000 9 135 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92844733 92844733 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92844733G>A ENST00000394468.2 - 3 773 c.696C>T c.(694-696)atC>atT p.I232I HEPACAM2_ENST00000440868.1_Silent_p.I220I|HEPACAM2_ENST00000341723.4_Silent_p.I220I|HEPACAM2_ENST00000453812.2_Silent_p.I255I NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 232 Ig-like C2-type 1. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TGGGCATAATGATATCACTTT 0.363000 23 43 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95721275 95721275 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:95721275C>T ENST00000480546.1 - 0 22 NR_002319.2 GCCCCCTCCCCCTCAAGGGCC 0.597000 14 101 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63430183 63430183 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:63430183G>A ENST00000536984.2 + 2 799 c.105G>A c.(103-105)aaG>aaA p.K35K CDH7_ENST00000397968.2_Silent_p.K35K|CDH7_ENST00000323011.3_Silent_p.K35K Q9ULB5 CADH7_HUMAN cadherin 7, type 2 35 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CCAGATCAAAGCCCTATTTCC 0.493000 6 34 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73102410 73102410 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:73102410C>T ENST00000264839.7 + 27 4063 c.4063C>T c.(4063-4065)Cct>Tct p.P1355S RIMS1_ENST00000518273.1_Missense_Mutation_p.P1185S|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1506S|RIMS1_ENST00000414192.2_Missense_Mutation_p.P33S|RIMS1_ENST00000425662.2_Missense_Mutation_p.P574S|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1289S|RIMS1_ENST00000517827.1_Missense_Mutation_p.P640S|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1289S|RIMS1_ENST00000522291.1_Missense_Mutation_p.P1105S|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1329S|RIMS1_ENST00000538414.1_Missense_Mutation_p.P312S|RIMS1_ENST00000401910.3_Missense_Mutation_p.P826S|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1156S|RIMS1_ENST00000523963.1_Missense_Mutation_p.P631S Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1506 Ser-rich. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TTTAATATTTCCTGGAGTGCG 0.418000 8 62 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94858841 94858841 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:94858841G>A ENST00000357742.4 + 3 612 c.612G>A c.(610-612)cgG>cgA p.R204R MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.R204R|MCTP2_ENST00000543482.1_Silent_p.R204R NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 204 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGGAAGGCCGGAACCTGGTTG 0.527000 6 28 0 0 1 0 0 FAM162B 221303 broad.mit.edu 37 6 117073798 117073798 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117073798C>T ENST00000368557.4 - 4 597 c.451G>A c.(451-453)Gaa>Aaa p.E151K NM_001085480.2 NP_001078949.1 Q5T6X4 F162B_HUMAN family with sequence similarity 162, member B 151 integral to membrane large_intestine(2)|lung(4) 6 GCAGCTTCTTCACGCCACTTA 0.398000 32 118 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6029562 6029562 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:6029562G>A ENST00000265849.7 - 10 1118 c.1013C>T c.(1012-1014)cCa>cTa p.P338L PMS2_ENST00000441476.2_Missense_Mutation_p.P232L|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.P338L|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 338 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CCTTTTATCTGGAGTAACATT 0.269000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 3 28 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183529291 183529291 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:183529291C>T ENST00000413720.1 - 13 1547 c.1273G>A c.(1273-1275)Gct>Act p.A425T NCF2_ENST00000367536.1_Missense_Mutation_p.A470T|NCF2_ENST00000367535.3_Missense_Mutation_p.A470T|NCF2_ENST00000418089.1_Missense_Mutation_p.A389T NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 470 OPR. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 GGTTGGGTAGCCTCATAACTG 0.433000 27 106 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196398791 196398791 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196398791G>A ENST00000367433.5 - 9 836 c.735C>T c.(733-735)ttC>ttT p.F245F KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.F245F|KCNT2_ENST00000367431.4_Silent_p.F245F|KCNT2_ENST00000451324.2_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 245 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGACATCCCCGAAGCCCACAG 0.423000 8 37 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100103676 100103676 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:100103676G>A ENST00000372966.3 - 12 1716 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NOX1_ENST00000372960.4_Missense_Mutation_p.S467F|NOX1_ENST00000217885.5_Missense_Mutation_p.S455F|NOX1_ENST00000372964.1_Intron NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 504 Interaction with NOXO1. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TCTCCCAAAGGAGGTTTTCTG 0.428000 27 78 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725890 130725890 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:130725890C>T ENST00000412425.1 - 0 728 NR_036537.1 GACGCTATCCCAAAGGGGAAA 0.428000 7 36 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172166042 172166042 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:172166042G>A ENST00000241256.2 - 1 204 c.162C>T c.(160-162)ttC>ttT p.F54F GHSR_ENST00000427970.1_Silent_p.F54F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 54 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGCCCACCACGAAGAGTGCCA 0.677000 6 70 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874886 80874886 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:80874886G>A ENST00000466387.1 + 22 3331 c.2607G>A c.(2605-2607)gtG>gtA p.V869V CTNNA2_ENST00000402739.4_Silent_p.V917V|CTNNA2_ENST00000540488.1_Silent_p.V824V|CTNNA2_ENST00000361291.4_Silent_p.V903V|CTNNA2_ENST00000496558.1_Silent_p.V869V|CTNNA2_ENST00000541047.1_Silent_p.V869V|CTNNA2_ENST00000343114.3_Silent_p.V548V P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 917 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 AGCCCCTTGTGAAGAGAGAAA 0.468000 21 161 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201816 248201816 + Missense_Mutation SNP G G A rs142994715 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248201816G>A ENST00000366479.2 + 1 343 c.247G>A c.(247-249)Gat>Aat p.D83N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D83N(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GAtggtttatgattttctgta 0.418000 29 151 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133378447 133378447 + Missense_Mutation SNP G G A rs149188843 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:133378447G>A ENST00000204726.3 - 8 2264 c.1706C>T c.(1705-1707)tCg>tTg p.S569L GOLGA3_ENST00000450791.2_Missense_Mutation_p.S569L|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S569L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S569L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.S569L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 569 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CTGCAGGGACGAGATCTCCGC 0.657000 29 87 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141732630 141732630 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141732630G>A ENST00000475668.2 + 14 1644 c.1590G>A c.(1588-1590)atG>atA p.M530I MGAM_ENST00000549489.2_Missense_Mutation_p.M530I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 530 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTAGGATATGAATGAAGTCT 0.353000 5 11 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175015 140175015 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140175015G>A ENST00000526136.1 + 1 466 c.466G>A c.(466-468)Gga>Aga p.G156R PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.G156R|PCDHA2_ENST00000378132.1_Missense_Mutation_p.G156R NM_018905.2 NP_061728.1 p.G156*(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCTAGAGGGAGCATCTGA 0.438000 4 82 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113169282 113169282 + Missense_Mutation SNP G G A rs143066739 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:113169282G>A ENST00000295872.4 - 15 2483 c.2224C>T c.(2224-2226)Cgt>Tgt p.R742C NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 742 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 AGTTTTCCACGAGCCTCCATA 0.433000 19 72 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95090040 95090040 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:95090040G>A ENST00000553947.1 + 8 2124 c.1236G>A c.(1234-1236)gtG>gtA p.V412V SERPINA3_ENST00000482740.1_Silent_p.V169V|SERPINA3_ENST00000393080.4_Silent_p.V387V|SERPINA3_ENST00000393078.3_Silent_p.V387V|SERPINA3_ENST00000467132.1_Silent_p.V387V P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 387 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CTGCATTAGTGGAGACAAGGA 0.498000 23 87 0 0 1 0 0 SMPD1 6609 broad.mit.edu 37 11 6415810 6415810 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6415810C>T ENST00000342245.4 + 6 2037 c.1869C>T c.(1867-1869)agC>agT p.S623S SMPD1_ENST00000299397.3_Silent_p.S579S|SMPD1_ENST00000527275.1_Silent_p.S622S|SMPD1_ENST00000356761.2_Silent_p.S567S NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 621 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) AGGCCCAGAGCCTGTGGCCAA 0.597000 10 39 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22952122 22952122 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:22952122G>A ENST00000397104.3 - 2 70 c.71C>T c.(70-72)tCg>tTg p.S24L ZNF99_ENST00000596209.1_Missense_Mutation_p.S3L zinc finger protein 99 p.S24W(1) 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) AAATGTCAACGATCCCTGAAA 0.388000 19 60 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48173412 48173412 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:48173412C>G ENST00000381501.3 - 4 455 c.298G>C c.(298-300)Gac>Cac p.D100H NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 100 PH. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 ACCCACAGGTCCCTGCTTTGT 0.323000 7 43 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71886027 71886027 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:71886027C>T ENST00000258104.3 + 43 4935 c.4658C>T c.(4657-4659)cCc>cTc p.P1553L DYSF_ENST00000409744.1_Missense_Mutation_p.P1561L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1591L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1585L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1584L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.P1571L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1592L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1574L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1554L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1570L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1575L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1553 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 AAAATTTATCCCCTCCCAGAA 0.502000 9 87 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611818 47611818 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47611818G>A ENST00000371891.3 + 11 1388 c.1357G>A c.(1357-1359)Gga>Aga p.G453R CYP4A22_ENST00000371890.3_Missense_Mutation_p.G355R|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G453R|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 453 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTCTCAGGAGGATCAAGGTG 0.517000 68 346 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47467581 47467581 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:47467581G>A ENST00000265565.5 - 7 1228 c.816C>T c.(814-816)gtC>gtT p.V272V SCAP_ENST00000441517.2_Silent_p.V17V|SCAP_ENST00000545718.1_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 272 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AGTGCACGTGGACCAGGCTCT 0.607000 6 32 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100118781 100118781 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:100118781C>T ENST00000330710.5 + 2 574 c.476C>T c.(475-477)cCt>cTt p.P159L HHIPL1_ENST00000357223.2_Missense_Mutation_p.P159L NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 159 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) TACTGCTTCCCTTACCTGCTG 0.612000 8 64 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132859926 132859926 + RNA SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:132859926G>T ENST00000434551.1 + 0 498 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) ACAGCTTTTCGATCTTTTACA 0.448000 10 68 3.86212e-05 3.88985e-05 1 1 0 PPP5C 5536 broad.mit.edu 37 19 46879771 46879771 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:46879771G>T ENST00000012443.4 + 4 676 c.573G>T c.(571-573)atG>atT p.M191I PPP5C_ENST00000391919.1_Missense_Mutation_p.M85I NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 191 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TCAGTTTCATGAAGGAGCTCA 0.532000 7 51 1.06961e-07 1.08049e-07 1 1 0 OR10G7 390265 broad.mit.edu 37 11 123908974 123908974 + Silent SNP G G A rs151111393 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123908974G>A ENST00000330487.5 - 1 743 c.735C>T c.(733-735)atC>atT p.I245I NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAAGGACCACGATACAGTGGG 0.562000 6 50 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969511 140969511 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140969511C>T ENST00000298296.1 + 4 838 c.838C>T c.(838-840)Ctg>Ttg p.L280L MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 280 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GATTCTTATTCTGAGTGTGAT 0.493000 38 113 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54373525 54373525 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:54373525T>C ENST00000306888.2 - 3 697 c.446A>G c.(445-447)gAc>gGc p.D149G LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.D245G|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 245 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) CCTGCCCTGGTCGGCATGGTT 0.488000 6 48 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40037160 40037160 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:40037160C>T ENST00000336649.4 + 8 1029 c.1029C>T c.(1027-1029)atC>atT p.I343I CACNA1I_ENST00000404898.1_Silent_p.I343I|CACNA1I_ENST00000402142.3_Silent_p.I343I|CACNA1I_ENST00000407673.1_Silent_p.I343I|CACNA1I_ENST00000400164.3_Silent_p.I343I|CACNA1I_ENST00000401624.1_Silent_p.I343I Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 343 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TTGACAACATCGGTTATGCTT 0.592000 5 61 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2156476 2156476 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:2156476G>A ENST00000262304.4 - 18 7620 c.7412C>T c.(7411-7413)cCg>cTg p.P2471L PKD1_ENST00000423118.1_Missense_Mutation_p.P2471L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2471 REJ. P -> L (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCCCCCCAGCGGCGGGCGGTT 0.711000 6 15 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45010264 45010264 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:45010264G>A ENST00000258787.7 - 9 1280 c.1144C>T c.(1144-1146)Cct>Tct p.P382S NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 382 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity p.P382S(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCACGCCGAGGATCCCGGCCC 0.597000 9 85 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751184 19751184 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:19751184C>T ENST00000400113.3 - 4 1043 c.939G>A c.(937-939)atG>atA p.M313I NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 313 '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) TGCAGCAGGCCATGTACTTGC 0.572000 11 106 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88144664 88144664 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:88144664C>T ENST00000507897.1 + 11 1470 c.1387C>T c.(1387-1389)Cct>Tct p.P463S C6ORF165_ENST00000369562.4_Missense_Mutation_p.P463S Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 463 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGCAGAAAATCCTGAACATTA 0.259000 3 27 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131222181 131222181 + Missense_Mutation SNP C C T rs146731749 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:131222181C>T ENST00000337057.3 - 7 1250 c.1069G>A c.(1069-1071)Gac>Aac p.D357N EPB41L2_ENST00000527659.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D357N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D357N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D357N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D357N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D357N NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 357 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCACTGAGGTCGATGCTGCCA 0.542000 13 138 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38154775 38154775 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:38154775C>T ENST00000379747.4 - 11 1569 c.1452G>A c.(1450-1452)gcG>gcA p.A484A POSTN_ENST00000541179.1_Silent_p.A484A|POSTN_ENST00000379743.4_Silent_p.A484A|POSTN_ENST00000379749.4_Silent_p.A484A|POSTN_ENST00000541481.1_Silent_p.A484A|POSTN_ENST00000379742.4_Silent_p.A484A NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 484 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ATATGTGAATCGCACCGTTTC 0.448000 25 131 0 0 1 0 0 CCDC121 79635 broad.mit.edu 37 2 27850155 27850155 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:27850155C>T ENST00000324364.3 - 2 692 c.512G>A c.(511-513)aGa>aAa p.R171K RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.R333K|ZNF512_ENST00000556601.1_Intron NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 171 breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) ATTAAGCTCTCTTCTTTTTCT 0.478000 7 72 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799381 212799381 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:212799381G>A ENST00000294829.3 + 1 1593 c.1162G>A c.(1162-1164)Gat>Aat p.D388N RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 388 Ala-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AGCAGACATGGATGCAGCAGC 0.612000 9 45 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55652970 55652970 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55652970C>T ENST00000449290.2 + 2 158 c.66C>T c.(64-66)ttC>ttT p.F22F NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 22 intracellular zinc ion binding TGAACTACTTCCTAGACCCAG 0.493000 6 57 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169454911 169454911 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:169454911G>A ENST00000256935.8 + 34 3506 c.3426G>A c.(3424-3426)ggG>ggA p.G1142G DOCK2_ENST00000520908.1_Silent_p.G634G|DOCK2_ENST00000540750.1_Silent_p.G203G|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1142 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTAGAAGGGGGCCGAGGCG 0.512000 5 48 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600809 29600809 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:29600809G>A ENST00000431530.3 + 1 2062 c.2004G>A c.(2002-2004)gtG>gtA p.V668V NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 658 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TGGGCCAGGTGGACGCCTCGC 0.582000 8 21 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22570050 22570050 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:22570050C>T ENST00000510882.2 + 1 256 c.246C>T c.(244-246)atC>atT p.I82I HDGFL1_ENST00000230012.3_Silent_p.I82I Q5TGJ6 HDGL1_HUMAN hepatoma derived growth factor-like 1 82 kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TGTGGGAAATCGAGAACAACC 0.652000 3 16 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31885376 31885376 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31885376C>T ENST00000253354.1 + 7 804 c.643C>T c.(643-645)Ctc>Ttc p.L215F NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 215 extracellular space lipid binding GTATGCAGACCTCCTGCAGCT 0.582000 8 95 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51064589 51064589 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:51064589G>A ENST00000547307.1 - 5 1371 c.966C>T c.(964-966)atC>atT p.I322I ARSA_ENST00000356098.5_Silent_p.I324I|ARSA_ENST00000395621.3_Silent_p.I324I|ARSA_ENST00000395619.3_Silent_p.I324I|ARSA_ENST00000453344.2_Silent_p.I238I|ARSA_ENST00000547805.1_Silent_p.I322I|ARSA_ENST00000216124.5_Silent_p.I324I P15289 ARSA_HUMAN arylsulfatase A 322 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GACCGGGAGCGATATGACCTG 0.662000 5 9 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17699608 17699608 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:17699608C>T ENST00000434762.2 + 0 224 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGGTCTTGATCGATGTGGCCA 0.592000 8 34 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30516712 30516712 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:30516712C>T ENST00000356798.6 + 20 2475 c.2295C>T c.(2293-2295)atC>atT p.I765I ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I681I NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 765 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGTTTCAGATCCCTTTTGAGA 0.542000 22 146 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209779668 209779668 + Missense_Mutation SNP G G A rs147371769 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:209779668G>A ENST00000009105.1 + 6 684 c.439G>A c.(439-441)Gaa>Aaa p.E147K CAMK1G_ENST00000361322.2_Missense_Mutation_p.E147K Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 147 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCTACAGCCCGAAAACCTGCT 0.438000 25 140 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451751 37451751 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:37451751G>A ENST00000374660.1 + 17 1908 c.1809G>A c.(1807-1809)ttG>ttA p.L603L ANKRD30A_ENST00000602533.1_Silent_p.L603L|ANKRD30A_ENST00000361713.1_Silent_p.L603L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 659 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCTTGGAATTGAAAAATGAAC 0.328000 46 68 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670755 134670755 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:134670755G>A ENST00000398015.3 + 3 1036 c.666G>A c.(664-666)cgG>cgA p.R222R EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 222 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGATTGCTCGGGGCACATGCA 0.527000 11 184 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746650 95746650 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:95746650C>T ENST00000311106.3 - 8 1160 c.923G>A c.(922-924)gGa>gAa p.G308E PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261E NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 308 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCCGTTTCCCGAAGCCCA 0.512000 21 159 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1783239 1783239 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:1783239C>T ENST00000539485.1 - 29 3954 c.3721G>A c.(3721-3723)Gag>Aag p.E1241K ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1231K|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1194K O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1231 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) GTGAAAATCTCCTCGCTGGGG 0.587000 3 15 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43817883 43817883 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43817883G>A ENST00000382031.1 + 5 4957 c.4926G>A c.(4924-4926)caG>caA p.Q1642Q MAP1A_ENST00000399453.1_Silent_p.Q1404Q|MAP1A_ENST00000300231.5_Silent_p.Q1404Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 1404 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGAAACAGCAGGATAAGGCTT 0.458000 6 38 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15501380 15501380 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:15501380C>T ENST00000341776.2 + 8 2432 c.2188C>T c.(2188-2190)Ctg>Ttg p.L730L JARID2_ENST00000397311.3_Silent_p.L558L|JARID2_ENST00000541660.1_Silent_p.L692L NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 730 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GAAGGAGATCCTGGAGAAGCG 0.627000 38 162 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212923 26212923 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:26212923C>T ENST00000379034.1 + 2 1109 c.960C>T c.(958-960)atC>atT p.I320I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 320 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGATGGGATCCTGCATTCAA 0.493000 33 92 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94512510 94512510 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94512510G>A ENST00000370225.3 - 19 2969 c.2883C>T c.(2881-2883)ttC>ttT p.F961F ABCA4_ENST00000535735.1_Silent_p.F887F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 961 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGTGGCCCAGGAATGCGGTGA 0.537000 50 156 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12923586 12923586 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:12923586C>T ENST00000361905.4 + 10 1419 c.754C>T c.(754-756)Cct>Tct p.P252S TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Missense_Mutation_p.P267S|TEAD1_ENST00000527636.1_Missense_Mutation_p.P267S|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000526600.1_Missense_Mutation_p.P171S NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 267 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) TGACAAATTTCCTGAAAAGAA 0.428000 14 196 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177225235 177225235 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:177225235C>T ENST00000361539.4 + 3 762 c.450C>T c.(448-450)gcC>gcT p.A150A NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 150 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TACTTTCTGCCACCCTTGGAG 0.438000 OREG0014006 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 31 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128846078 128846078 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:128846078C>T ENST00000249373.3 + 5 1288 c.1008C>T c.(1006-1008)acC>acT p.T336T NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 336 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGGTCCTCACCTATGCCTGGC 0.562000 Mis skin basal cell 20 210 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517667 123517667 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:123517667C>T ENST00000422452.2 - 30 7177 c.7114G>A c.(7114-7116)Gat>Aat p.D2372N STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D2365N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTAAGGAAATCATAGAGTCCT 0.408000 14 60 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872557 55872557 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55872557C>T ENST00000313503.1 + 1 39 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGGCTGACTTCATCCTTATGG 0.443000 HNSCC(53;0.14) 40 158 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59195288 59195288 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:59195288C>T ENST00000262717.4 + 7 1504 c.1106C>T c.(1105-1107)cCa>cTa p.P369L CDH20_ENST00000538374.1_Missense_Mutation_p.P369L|CDH20_ENST00000536675.2_Missense_Mutation_p.P369L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 369 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) AACTTGGGCCCATTTCAGGAC 0.493000 7 81 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149822 18149822 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:18149822G>A ENST00000375406.1 + 2 535 c.319G>A c.(319-321)Gag>Aag p.E107K NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 107 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) ACCCTTGAGGGAGCCTGCGGA 0.597000 13 54 0 0 1 0 0 IFNG 3458 broad.mit.edu 37 12 68551693 68551693 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:68551693C>T ENST00000229135.3 - 3 497 c.366_splice c.e3+1 p.S122_splice IFNG-AS1_ENST00000536914.1_RNA NM_000619.2 NP_000610.2 P01579 IFNG_HUMAN interferon, gamma 122 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) ATAGCCTCACCGAATAATTAG 0.363000 5 76 0 0 1 0 0 CLDN4 1364 broad.mit.edu 37 7 73245545 73245545 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:73245545G>A ENST00000435050.1 + 2 2694 c.14G>A c.(13-15)gGg>gAg p.G5E CLDN4_ENST00000340958.2_Missense_Mutation_p.G5E|CLDN4_ENST00000431918.1_Missense_Mutation_p.G5E O14493 CLD4_HUMAN claudin 4 5 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) GCCTCCATGGGGCTACAGGTA 0.672000 5 81 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6224994 6224994 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:6224994G>A ENST00000264870.3 - 7 1163 c.898C>T c.(898-900)Cta>Tta p.L300L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 300 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TATTCCAATAGAATGTCAACG 0.488000 8 123 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168634 50168634 + Silent SNP G G A rs150358448 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:50168634G>A ENST00000284509.6 - 25 3009 c.2868C>T c.(2866-2868)ttC>ttT p.F956F ATP8B4_ENST00000559829.1_Silent_p.F956F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 956 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F956F(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACGCAAATGAAAAATTTAC 0.458000 10 58 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4286286 4286286 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:4286286G>A ENST00000381971.3 - 2 733 c.140C>T c.(139-141)tCg>tTg p.S47L NM_001042413.1 NP_001035878.1 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 637 Ser-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AGTGGGACTCGATGTGCTGCC 0.607000 9 35 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56041190 56041190 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56041190G>A ENST00000413299.1 - 4 994 c.957C>T c.(955-957)atC>atT p.I319I SBK2_ENST00000344158.3_Silent_p.I319I NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 319 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCCTGATGGCGATCACAGCGC 0.756000 9 34 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178489983 178489983 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:178489983C>T ENST00000367641.3 + 7 576 c.517C>T c.(517-519)Ccc>Tcc p.P173S TEX35_ENST00000367643.3_Missense_Mutation_p.P173S|TEX35_ENST00000319416.2_Missense_Mutation_p.P173S|TEX35_ENST00000367639.1_Missense_Mutation_p.P181S|TEX35_ENST00000258298.2_Missense_Mutation_p.P97S|TEX35_ENST00000367642.3_3'UTR testis expressed 35 CTCACTGGATCCCCTTCATCA 0.582000 4 32 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87738790 87738790 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:87738790C>T ENST00000320005.5 - 3 354 c.307G>A c.(307-309)Gaa>Aaa p.E103K CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 103 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGGTCCATTTCCTTCTGCTCT 0.438000 16 215 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65499198 65499198 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:65499198C>T ENST00000261883.4 - 4 512 c.346G>A c.(346-348)Ggt>Agt p.G116S NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 116 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACCAGAAACCCTCACGGGGA 0.642000 11 65 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23519780 23519780 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:23519780G>A ENST00000374619.1 - 1 1442 c.933C>T c.(931-933)atC>atT p.I311I HTR1D_ENST00000314113.3_Silent_p.I311I NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 311 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GCCAGCAGATGATAAAGGCCC 0.552000 30 93 0 0 1 0 0 IL2RA 3559 broad.mit.edu 37 10 6066262 6066262 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:6066262C>T ENST00000379959.3 - 3 485 c.312G>A c.(310-312)agG>agA p.R104R IL2RA_ENST00000256876.6_Silent_p.R104R|IL2RA_ENST00000379954.1_Silent_p.R104R NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 104 cell proliferation integral to membrane interleukin-2 receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CTGTGGTTTTCCTTTCTTTCT 0.458000 8 44 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57340760 57340760 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57340760G>A ENST00000361249.3 + 3 406 c.310G>A c.(310-312)Gag>Aag p.E104K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 104 LDL-receptor class A. 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 CCAGTGTAAGGAGACAGGTGA 0.478000 3 24 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625750 140625750 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140625750C>T ENST00000231173.3 + 1 604 c.604C>T c.(604-606)Cgc>Tgc p.R202C NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 202 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAACTGGATCGCGAGGAGCA 0.552000 3 28 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120252445 120252445 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:120252445G>A ENST00000276681.6 + 4 446 c.344G>A c.(343-345)gGa>gAa p.G115E RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR NM_052886.2 NP_443118.1 Q969L2 MAL2_HUMAN mal, T-cell differentiation protein 2 (gene/pseudogene) 115 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) TTCTATTTTGGAGCCTTTTTA 0.363000 8 47 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 756666 756666 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:756666G>A ENST00000584307.1 - 2 332 c.162C>T c.(160-162)ttC>ttT p.F54F YES1_ENST00000314574.4_Silent_p.F54F|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Silent_p.F59F P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 54 blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) AAAGACTGCTGAAATTAACTG 0.488000 38 138 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4903249 4903249 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4903249C>T ENST00000380378.1 + 1 201 c.201C>T c.(199-201)gcC>gcT p.A67A MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.A40A|MMP26_ENST00000477339.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACACCATTGCCCTCTTGGGAA 0.473000 6 91 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501787 28501787 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:28501787C>T ENST00000412168.2 + 5 598 c.509C>T c.(508-510)tCc>tTc p.S170F GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 170 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) AAATCTATATCCTGGGACCCT 0.493000 14 172 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40129048 40129048 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:40129048C>T ENST00000235628.1 - 4 491 c.492G>A c.(490-492)aaG>aaA p.K164K NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 164 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGTGATAGGCCTTGAGGTAGC 0.532000 7 61 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40913196 40913196 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40913196C>T ENST00000346991.5 + 11 1202 c.812C>T c.(811-813)tCc>tTc p.S271F CASC5_ENST00000399668.2_Missense_Mutation_p.S245F|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 271 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CCTATTTATTCCAAGGAACCG 0.313000 5 30 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415799 86415799 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:86415799G>A ENST00000361669.2 + 3 1790 c.691G>A c.(691-693)Gag>Aag p.E231K GRM3_ENST00000439827.1_Missense_Mutation_p.E231K|GRM3_ENST00000394720.2_Missense_Mutation_p.E229K|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E103K NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 231 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) CGAGGCCTTCGAGCAGGAAGC 0.597000 6 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577515 179577515 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179577515G>A ENST00000589042.1 - 94 27461 c.27237C>T c.(27235-27237)ttC>ttT p.F9079F TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F8762F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F7835F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8762 Ig-like 74. 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) TATCTACATCGAACAACTCCA 0.423000 15 30 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56127844 56127844 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56127844G>A ENST00000303039.3 + 1 154 c.122G>A c.(121-123)gGg>gAg p.G41E NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) ACCATGGCAGGGAACCTGGGC 0.493000 11 99 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2024953 2024953 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:2024953T>C ENST00000568546.1 + 7 617 c.489T>C c.(487-489)ccT>ccC p.P163P NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 163 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 ACCCGGACCCTACACGCCTGC 0.672000 13 75 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113076847 113076847 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:113076847C>A ENST00000316851.7 + 4 543 c.543C>A c.(541-543)ggC>ggA p.G181G NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G190G|NCAM1_ENST00000533760.1_Silent_p.G73G NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 191 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCTGTGAGGGCAGAATCCTGG 0.498000 7 127 0.000274275 0.000275778 1 1 0 C6orf222 389384 broad.mit.edu 37 6 36298415 36298415 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36298415G>A ENST00000437635.2 - 2 230 c.53C>T c.(52-54)tCt>tTt p.S18F NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 18 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CCTGTCCAGAGACCTGGCTTT 0.607000 8 105 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5445346 5445346 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:5445346A>G ENST00000345221.3 - 6 3084 c.2528_splice c.e6-1 p.L844_splice NLRP1_ENST00000354411.3_Splice_Site_p.L844_splice|NLRP1_ENST00000572272.1_Splice_Site_p.L844_splice|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Splice_Site_p.L844_splice|NLRP1_ENST00000577119.1_Splice_Site_p.L844_splice|NLRP1_ENST00000262467.5_Splice_Site_p.L844_splice NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 844 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CAGCCAGCCAACCTGTGGAAG 0.537000 4 7 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537625 55537625 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55537625G>A ENST00000220676.1 + 4 1331 c.1183G>A c.(1183-1185)Gag>Aag p.E395K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 395 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTCACCTATGGAGCGAAGCAG 0.433000 6 39 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111915908 111915908 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:111915908T>C ENST00000280346.6 + 9 1903 c.1244T>C c.(1243-1245)gTt>gCt p.V415A DLAT_ENST00000393051.1_Missense_Mutation_p.V310A|DLAT_ENST00000537636.1_Missense_Mutation_p.V186A NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 415 glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) ATGGCACCAGTTCCTACAGGT 0.468000 26 146 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128600 55128600 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55128600C>T ENST00000370862.3 + 4 1078 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 248 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R248C(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCAAATATTTCGCAAACTCTG 0.373000 5 28 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11897114 11897114 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:11897114C>T ENST00000346436.6 + 19 2091 c.2039C>T c.(2038-2040)tCc>tTc p.S680F CLCN6_ENST00000376487.3_Missense_Mutation_p.S658F|CLCN6_ENST00000376496.3_Missense_Mutation_p.S680F|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 680 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCATGAAGTCCTACCCATCC 0.612000 13 53 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56347173 56347173 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56347173C>T ENST00000331886.5 + 23 2557 c.2103C>T c.(2101-2103)ccC>ccT p.P701P DGKA_ENST00000394147.1_Silent_p.P701P|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.P701P NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 701 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ACGGAGAACCCTGGATGCAGA 0.468000 52 230 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149557754 149557754 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:149557754G>C ENST00000223210.4 + 7 1750 c.1505G>C c.(1504-1506)cGg>cCg p.R502P NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity p.R502L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AAATCATCTCGGTTAGTCAGA 0.448000 32 82 0 0 1 0 0 NUDT12 83594 broad.mit.edu 37 5 102895158 102895158 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:102895158G>A ENST00000230792.2 - 3 314 c.218C>T c.(217-219)tCa>tTa p.S73L NUDT12_ENST00000507423.1_Missense_Mutation_p.S55L NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 73 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) ATTGACAATTGATCTGTCACA 0.343000 6 46 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029765 13029765 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:13029765G>A ENST00000399002.2 + 2 564 c.290G>A c.(289-291)aGa>aAa p.R97K SPTLC3_ENST00000378194.4_Missense_Mutation_p.R97K|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 97 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCTGTGGAAAGAAAAGAACAA 0.428000 11 43 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4929269 4929269 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4929269C>T ENST00000592666.1 + 0 765 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) ACTACGAGGTCCGCCTGAATG 0.632000 7 56 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106970980 106970980 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:106970980C>T ENST00000369701.3 + 17 2574 c.2347C>T c.(2347-2349)Ctt>Ttt p.L783F SORCS3_ENST00000369699.4_Missense_Mutation_p.L69F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 783 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACTGCAGCCTTGGTCAAAG 0.473000 11 23 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2290105 2290105 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:2290105C>T ENST00000378531.3 - 9 968 c.795G>A c.(793-795)caG>caA p.Q265Q MORN1_ENST00000378529.3_Silent_p.Q265Q|MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 265 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) AGGCTGACAGCTGCACGTATC 0.557000 5 29 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167297987 167297987 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:167297987G>A ENST00000409855.1 - 14 2202 c.2076C>T c.(2074-2076)acC>acT p.T692T NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 692 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AGTCCCACAAGGTCTCTACCC 0.433000 8 42 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37903036 37903036 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37903036G>A ENST00000309156.4 + 15 1742 c.1485G>A c.(1483-1485)atG>atA p.M495I GRB7_ENST00000445327.2_Missense_Mutation_p.M518I|GRB7_ENST00000394209.2_Missense_Mutation_p.M495I|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000394211.3_Missense_Mutation_p.M495I|GRB7_ENST00000309185.3_3'UTR NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 495 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ACTTCAGCATGGATGATGGCC 0.647000 12 103 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636366 44636366 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44636366C>T ENST00000262894.6 + 5 1879 c.1599C>T c.(1597-1599)gtC>gtT p.V533V ZNF225_ENST00000590612.1_Silent_p.V533V|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) ATCGCAGAGTCCACACTGGAG 0.438000 16 81 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42082637 42082637 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42082637C>T ENST00000187608.9 + 1 51 c.11C>T c.(10-12)cCc>cTc p.P4L CEACAM21_ENST00000482870.2_Intron|CEACAM21_ENST00000401445.2_Missense_Mutation_p.P4L|CEACAM21_ENST00000407170.2_Intron NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 4 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 ATGGGGCCCCCCTCAGCTTGT 0.622000 10 26 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84606391 84606391 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:84606391T>G ENST00000262753.4 - 5 650 c.505A>C c.(505-507)Aca>Cca p.T169P POF1B_ENST00000373145.3_Missense_Mutation_p.T169P NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 169 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTTCTTATTGTTTTTTCATAA 0.264000 5 14 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104118101 104118101 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104118101C>T ENST00000361355.4 + 9 1656 c.1040C>T c.(1039-1041)cCt>cTt p.P347L AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 347 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CTTGCTCATCCTTATGGTTTT 0.323000 23 417 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60903023 60903023 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60903023G>A ENST00000252999.3 - 36 4762 c.4696C>T c.(4696-4698)Ccg>Tcg p.P1566S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1566 Laminin EGF-like 14. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGAAGCCCGGAGAGCAGGTA 0.667000 11 86 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39880041 39880041 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:39880041G>A ENST00000373186.4 - 7 1085 c.948C>T c.(946-948)aaC>aaT p.N316N MOCS1_ENST00000373188.2_Silent_p.N316N|MOCS1_ENST00000308559.7_Silent_p.N316N|MOCS1_ENST00000373195.3_Silent_p.N229N|MOCS1_ENST00000425303.2_Silent_p.N316N|MOCS1_ENST00000432280.2_Silent_p.N287N|MOCS1_ENST00000373175.4_Silent_p.N287N|MOCS1_ENST00000340692.5_Silent_p.N316N NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 316 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) TTCGCAGGCGGTTGCAGGTCC 0.572000 11 146 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074625 9074625 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9074625G>A ENST00000397910.4 - 3 13024 c.12821C>T c.(12820-12822)cCa>cTa p.P4274L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4276 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTAACCAATGGAGATGTGGC 0.483000 5 57 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71158482 71158482 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71158482C>T ENST00000283228.2 - 3 886 c.434G>A c.(433-435)gGa>gAa p.G145E PTPRR_ENST00000342084.4_Missense_Mutation_p.G33E NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 145 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GGGTAAGAGTCCTAAAGCTGC 0.413000 5 53 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43905598 43905598 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:43905598G>A ENST00000562955.1 + 50 6918 c.6918G>A c.(6916-6918)ggG>ggA p.G2306G SZT2_ENST00000372442.1_Silent_p.G1464G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2363 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGGAAAAGGGGAACATTAGTA 0.567000 13 82 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6266856 6266856 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:6266856C>T ENST00000264870.3 - 4 771 c.506G>A c.(505-507)gGc>gAc p.G169D NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 169 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TCGAAGTACGCCATAGGGAGT 0.463000 14 98 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36099603 36099603 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36099603C>T ENST00000225893.4 - 2 733 c.372G>A c.(370-372)atG>atA p.M124I HNF1B_ENST00000561193.1_Missense_Mutation_p.M124I|HNF1B_ENST00000427275.2_Missense_Mutation_p.M124I|HNF1B_ENST00000560016.1_Missense_Mutation_p.M124I NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 124 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AACCCTTGATCATTTTAGCAG 0.532000 3 17 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71437568 71437568 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:71437568G>A ENST00000265382.3 + 4 343 c.38G>A c.(37-39)gGa>gAa p.G13E RP11-203L2.4_ENST00000442103.1_RNA|PIP5K1B_ENST00000541509.1_Missense_Mutation_p.G13E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 13 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GCAGCACCTGGAAAACAAAAT 0.353000 13 57 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569050 61569050 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61569050C>T ENST00000457692.1 + 7 945 c.612C>T c.(610-612)ttC>ttT p.F204F SERPINB2_ENST00000299502.4_Silent_p.F204F|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 204 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CTGTCTACTTCAAAGGAAAGT 0.383000 14 71 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21768320 21768320 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:21768320C>T ENST00000276420.4 - 4 740 c.482G>A c.(481-483)aGt>aAt p.S161N DOK2_ENST00000544659.1_Missense_Mutation_p.S7N NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 161 IRS-type PTB. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GCACCTCTCACTGGCTTCTGT 0.622000 3 33 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89259197 89259197 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:89259197G>A ENST00000336596.2 + 3 566 c.341G>A c.(340-342)gGa>gAa p.G114E EPHA3_ENST00000494014.1_Missense_Mutation_p.G114E|EPHA3_ENST00000452448.2_Missense_Mutation_p.G114E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 114 extracellular region|integral to plasma membrane ATP binding p.G114E(1) 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) TTGGTTTTAGGAACTTGCAAG 0.438000 TSP Lung(6;0.00050) 9 100 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31326097 31326097 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:31326097A>G ENST00000269197.5 + 12 6285 c.6285A>G c.(6283-6285)gaA>gaG p.E2095E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 2095 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCAGCTGTGAACTGGGCATGA 0.403000 15 77 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135864540 135864540 + Silent SNP C C T rs145418687 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:135864540C>T ENST00000339463.3 + 9 1422 c.603C>T c.(601-603)ttC>ttT p.F201F GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372122.1_Silent_p.F201F|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000450530.1_Silent_p.F201F Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 201 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GCAAAACCTTCGGCCACGCTG 0.662000 7 43 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201399743 201399743 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:201399743C>T ENST00000357799.4 + 3 256 c.158C>T c.(157-159)tCt>tTt p.S53F SGOL2_ENST00000409203.3_Missense_Mutation_p.S53F NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 53 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTCAAAATATCTTTAAAGCAC 0.269000 3 13 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853269 143853269 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:143853269G>A ENST00000507359.2 + 3 1970 c.879G>A c.(877-879)aaG>aaA p.K293K KCTD16_ENST00000512467.1_Silent_p.K293K NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 293 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GCTGCTGCAAGAATGGCAAAG 0.542000 9 47 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38877323 38877323 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38877323G>A ENST00000359357.3 + 63 9146 c.8892G>A c.(8890-8892)ttG>ttA p.L2964L DNAH8_ENST00000441566.1_Silent_p.L2928L|DNAH8_ENST00000449981.2_Silent_p.L3181L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCCGTTCTTTGAAATTTCCTG 0.468000 7 74 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915058 48915058 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:48915058G>A ENST00000294954.7 - 11 1899 c.1878C>T c.(1876-1878)ttC>ttT p.F626F LHCGR_ENST00000405626.1_Silent_p.F599F|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Silent_p.F564F|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 626 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ATGTCTTAGTGAATATTGCAT 0.358000 13 109 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169644879 169644879 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:169644879G>A ENST00000428432.2 + 6 1218 c.829G>A c.(829-831)Gat>Aat p.D277N SAMD7_ENST00000335556.3_Missense_Mutation_p.D277N NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 277 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GGCCTGGGACGATGGGAAAGA 0.567000 4 73 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381187 58381187 + Silent SNP C C T rs141986640 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:58381187C>T ENST00000371015.1 + 8 1733 c.1266C>T c.(1264-1266)ttC>ttT p.F422F PHACTR3_ENST00000359926.3_Silent_p.F419F|PHACTR3_ENST00000395636.2_Silent_p.F381F|PHACTR3_ENST00000395639.4_Silent_p.F311F|PHACTR3_ENST00000355648.4_Silent_p.F381F|PHACTR3_ENST00000361300.4_Silent_p.F311F|PHACTR3_ENST00000541461.1_Silent_p.F381F NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 422 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GGAACATTTTCCCCAGAAGGA 0.542000 13 148 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155319381 155319381 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:155319381G>A ENST00000368346.3 - 18 8027 c.7388C>T c.(7387-7389)tCc>tTc p.S2463F ASH1L_ENST00000392403.3_Missense_Mutation_p.S2458F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2463 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGCTTGCCGGGAAGAATCTGC 0.413000 5 18 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130830989 130830989 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:130830989C>T ENST00000245255.3 + 5 663 c.391C>T c.(391-393)Cag>Tag p.Q131* NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 131 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GGCCTTATATCAGTATCACAT 0.418000 5 39 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676125 123676125 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123676125C>T ENST00000309154.2 - 1 970 c.933G>A c.(931-933)agG>agA p.R311R NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GTCAAGTTTTCCTTTGTATCA 0.373000 7 70 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55328594 55328594 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:55328594C>T ENST00000536015.1 - 22 2638 c.2519G>A c.(2518-2520)aGg>aAg p.R840K RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R840K|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 840 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TTCTAGCCTCCTTTTACTTTG 0.483000 14 47 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614165 36614165 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:36614165C>T ENST00000311485.3 - 2 1715 c.1554G>A c.(1552-1554)aaG>aaA p.K518K NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 518 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) GAAAGGATTTCTTGGCAGGAG 0.358000 Familial Hemophagocytic Lymphohistiocytosis 9 36 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128135036 128135036 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128135036G>A ENST00000368250.1 - 5 1011 c.513C>T c.(511-513)gtC>gtT p.V171V THEMIS_ENST00000368248.2_Silent_p.V250V|THEMIS_ENST00000543064.1_Silent_p.V250V|THEMIS_ENST00000537166.1_Silent_p.V215V Q8N1K5 THMS1_HUMAN thymocyte selection associated 250 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CTTTGACTTCGACATCTAGAC 0.348000 9 111 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44190810 44190810 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:44190810G>A ENST00000357199.4 - 2 153 c.75C>T c.(73-75)ttC>ttT p.F25F WFDC8_ENST00000289953.2_Silent_p.F25F NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 25 extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GAAGCAGCAGGAAAGCTACAT 0.483000 5 38 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91077094 91077094 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:91077094G>A ENST00000357056.2 - 17 2079 c.1958C>T c.(1957-1959)cCc>cTc p.P653L TTC7B_ENST00000328459.6_Missense_Mutation_p.P653L|TTC7B_ENST00000554654.1_5'UTR Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 653 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) ACCTGTCTCGGGATCGCTGAA 0.498000 10 56 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498916 142498916 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142498916G>A ENST00000466254.1 + 0 192 GCCCCTCAAGGAGCAGCCCGC 0.642000 4 123 0 0 1 0 0 SYCN 342898 broad.mit.edu 37 19 39694666 39694666 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:39694666C>T ENST00000318438.6 - 1 240 c.229G>A c.(229-231)Gcc>Acc p.A77T NM_001080468.2 NP_001073937.1 Q0VAF6 SYCN_HUMAN syncollin 77 exocytosis transport vesicle membrane endometrium(1)|kidney(1) 2 all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454) Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGTGAGGAGGCGGTGTTGGCC 0.682000 4 20 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945291 4945291 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4945291C>T ENST00000321961.2 - 1 346 c.279G>A c.(277-279)gaG>gaA p.E93E MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGCCAATCTCTCTGGTAT 0.488000 6 44 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14842639 14842639 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:14842639G>A ENST00000380881.4 - 10 2231 c.1416C>T c.(1414-1416)ttC>ttT p.F472F FREM1_ENST00000422223.2_Silent_p.F471F|FREM1_ENST00000380880.3_Silent_p.F471F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 471 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CAGCCACGGTGAAGAGAAACC 0.527000 6 59 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123046501 123046501 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:123046501G>A ENST00000462833.1 - 7 3123 c.1911C>T c.(1909-1911)atC>atT p.I637I ADCY5_ENST00000491190.1_Silent_p.I270I|ADCY5_ENST00000309879.5_Silent_p.I287I NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 637 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GGAAGGTCTCGATACTGTGCT 0.622000 4 39 0 0 1 0 0 TCP11 6954 broad.mit.edu 37 6 35088238 35088238 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:35088238G>A ENST00000311875.5 - 7 1357 c.940C>T c.(940-942)Ctc>Ttc p.L314F TCP11_ENST00000373979.2_Missense_Mutation_p.L239F|TCP11_ENST00000418521.2_Missense_Mutation_p.L238F|TCP11_ENST00000412155.2_Missense_Mutation_p.L263F|TCP11_ENST00000373974.4_Missense_Mutation_p.L268F|TCP11_ENST00000244645.3_Missense_Mutation_p.L239F|TCP11_ENST00000444780.2_Missense_Mutation_p.L309F|TCP11_ENST00000512012.1_Missense_Mutation_p.L301F Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 301 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 AGGTCCCAGAGAAGGAGGTTC 0.572000 26 154 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354506 42354506 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42354506G>A ENST00000596827.1 + 7 968 c.882G>A c.(880-882)agG>agA p.R294R DMRTC2_ENST00000269945.3_Intron Q8IXT2 DMRTD_HUMAN DMRT-like family C2 275 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 GAAAAAGCAGGAAACTGAAGG 0.597000 7 102 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8166505 8166505 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:8166505C>T ENST00000314666.6 + 13 1622 c.1489C>T c.(1489-1491)Cgt>Tgt p.R497C PFAS_ENST00000585319.1_3'UTR|PFAS_ENST00000545834.1_Missense_Mutation_p.R73C NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 497 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGATGAACCGTGTGATCAG 0.567000 20 102 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37690635 37690635 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:37690635G>A ENST00000315215.7 + 9 1568 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q GPR124_ENST00000412232.2_Missense_Mutation_p.R402Q Q96PE1 GP124_HUMAN G protein-coupled receptor 124 402 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCTCCCGCCGGTGTGACCGT 0.662000 9 78 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160219966 160219966 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:160219966G>A ENST00000334256.4 - 17 1797 c.1492C>T c.(1492-1494)Cca>Tca p.P498S NM_002268.4 NP_002259.1 O00629 IMA4_HUMAN karyopherin alpha 4 (importin alpha 3) 498 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATTGCCTCTGGAACAAGGCTA 0.338000 23 102 0 0 1 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54971287 54971287 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54971287G>A ENST00000547431.1 - 6 374 c.347C>T c.(346-348)tCc>tTc p.S116F PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000550620.1_Intron Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A 0 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 AGTGTGGGTGGAGCAGGGAAA 0.557000 9 100 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970635 45970635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45970635C>T ENST00000391621.1 - 1 753 c.707G>A c.(706-708)cGc>cAc p.R236H TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 236 keratin filament large_intestine(1)|lung(4)|skin(1) 6 GCACACGGGGCGGCAGAGGAG 0.667000 8 124 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76388580 76388580 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:76388580C>T ENST00000262764.6 + 2 193 c.167C>T c.(166-168)cCc>cTc p.P56L PGS1_ENST00000329897.7_Intron NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 56 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TTATTGGCTCCCTTGCTGTCC 0.537000 4 54 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58711311 58711311 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:58711311C>T ENST00000305921.3 + 3 1031 c.799C>T c.(799-801)Cct>Tct p.P267S NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 267 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TGACCAGATTCCTTTTCTGGC 0.393000 9 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085846 9085846 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9085846A>T ENST00000397910.4 - 1 6172 c.5969T>A c.(5968-5970)gTt>gAt p.V1990D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1990 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGAAGAAACTGCATGTAG 0.463000 12 58 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357222 38357222 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:38357222C>T ENST00000379705.3 - 2 1106 c.249G>A c.(247-249)ttG>ttA p.L83L TRPC4_ENST00000379681.3_Silent_p.L83L|TRPC4_ENST00000338947.5_Silent_p.L83L|TRPC4_ENST00000355779.2_Silent_p.L83L|TRPC4_ENST00000447043.1_Silent_p.L83L|TRPC4_ENST00000426868.2_Silent_p.L83L|TRPC4_ENST00000379673.2_Silent_p.L83L|TRPC4_ENST00000358477.2_Silent_p.L83L|TRPC4_ENST00000379679.1_Silent_p.L83L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 83 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) Cgatgagctccaagttctcat 0.368000 3 36 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990861 47990861 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:47990861G>A ENST00000371741.4 - 2 1402 c.1236C>T c.(1234-1236)atC>atT p.I412I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 412 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGTTATTGACGATGATGGGGA 0.512000 4 87 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111342546 111342546 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:111342546C>T ENST00000308208.5 + 11 1739 c.1497C>T c.(1495-1497)gtC>gtT p.V499V CCDC63_ENST00000552694.1_Silent_p.V420V|CCDC63_ENST00000545036.1_Silent_p.V459V NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 499 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 CCATCAAAGTCATCCCCCCAG 0.587000 8 61 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884930 53884930 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53884930C>T ENST00000467003.1 + 4 1191 c.990C>T c.(988-990)ttC>ttT p.F330F ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Silent_p.F366F|ZNF525_ENST00000355326.3_Silent_p.F84F zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 CTTTCAGTTTCAAATCAAACC 0.388000 8 32 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111643171 111643171 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:111643171G>A ENST00000261486.5 - 2 392 c.116C>T c.(115-117)tCc>tTc p.S39F NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 39 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AAGGACAACGGAACCTTTCGT 0.388000 5 33 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741356 48741356 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48741356G>A ENST00000285238.8 + 10 1302 c.1222G>A c.(1222-1224)Gaa>Aaa p.E408K ABCC3_ENST00000427699.1_Missense_Mutation_p.E408K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 408 ABC transmembrane type-1 1. 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) CACTGTGGGGGAAATTGTCAA 0.567000 11 92 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539937 55539937 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55539937G>A ENST00000220676.1 + 4 3643 c.3495G>A c.(3493-3495)gaG>gaA p.E1165E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1165 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CATTGTTGGAGATTCTAAAGC 0.428000 5 77 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107678000 107678000 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107678000A>C ENST00000388781.3 - 30 4595 c.4512T>G c.(4510-4512)aaT>aaG p.N1504K LAMB4_ENST00000205386.4_Missense_Mutation_p.N1504K|LAMB4_ENST00000388780.3_Missense_Mutation_p.N1504K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1504 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAAGCACACCATTCGCAACCT 0.398000 6 131 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23637631 23637631 + Missense_Mutation SNP C C T rs45476495 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:23637631C>T ENST00000261584.4 - 7 2826 c.2674G>A c.(2674-2676)Gaa>Aaa p.E892K NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 892 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) ACTACATCTTCGCAAGCAGTT 0.463000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 13 94 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123517019 123517019 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123517019G>A ENST00000223026.4 + 5 1894 c.1256G>A c.(1255-1257)gGa>gAa p.G419E HYAL4_ENST00000476325.1_Missense_Mutation_p.G419E NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 419 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACTGTGAAAGGAAAAGCATCT 0.468000 12 118 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5220972 5220972 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5220972C>T ENST00000321255.1 - 1 958 c.959G>A c.(958-960)aGa>aAa p.R320K NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCAATATCTTTTCAGAGA 0.308000 5 23 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75393768 75393768 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:75393768G>A ENST00000359322.4 - 5 922 c.558C>T c.(556-558)tcC>tcT p.S186S NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 186 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GCTCCCATGGGGAAATATAGG 0.478000 3 63 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171174591 171174591 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:171174591C>T ENST00000441535.1 + 7 1118 c.1001C>T c.(1000-1002)tCt>tTt p.S334F FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.S334F NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 334 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TATAGTTTCTCTTTTCCCTTC 0.413000 4 45 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583078 7583078 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7583078G>A ENST00000379802.3 + 24 5924 c.5583G>A c.(5581-5583)caG>caA p.Q1861Q DSP_ENST00000418664.2_Silent_p.Q1262Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1861 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGCAAATTCAGAATGACCTGA 0.473000 5 67 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104538 5104538 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:5104538C>T ENST00000396912.1 + 5 1970 c.1451C>T c.(1450-1452)tCc>tTc p.S484F RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S484F NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 484 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GAAGAGAAATCCCATGAATGT 0.373000 8 54 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 64022864 64022864 + Nonsense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:64022864G>T ENST00000371088.4 + 10 1540 c.1294G>T c.(1294-1296)Gaa>Taa p.E432* EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 432 EF-hand 3. calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 TAATTTTTTTGAATTGAGAAC 0.289000 10 30 3.86212e-05 3.88985e-05 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31890254 31890254 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:31890254C>T ENST00000396184.3 - 9 1056 c.e9+1 PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AACACCCTCACCGAGTCTGAA 0.453000 7 61 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2019092 2019092 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:2019092C>T ENST00000382722.5 - 4 828 c.466G>A c.(466-468)Gaa>Aaa p.E156K CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E156K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E92K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E156K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E92K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E156K NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 156 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TCATTGAATTCGTGGTTCAGG 0.587000 4 20 0 0 1 0 0 OR5K2 402135 broad.mit.edu 37 3 98217323 98217323 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:98217323G>A ENST00000427338.1 + 1 876 c.799G>A c.(799-801)Gaa>Aaa p.E267K CLDND1_ENST00000502288.1_Intron NM_001004737.1 NP_001004737.1 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E267Q(1) endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTTGCTTGAAGAAGGAGGTAA 0.328000 7 32 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81053372 81053372 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:81053372C>T ENST00000334512.5 + 12 1764 c.1192C>T c.(1192-1194)Ctt>Ttt p.L398F ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 398 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GCCCCAGTCCCTTCCTATTCA 0.652000 6 136 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909511 123909511 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123909511G>A ENST00000330487.5 - 1 206 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACATGTCAATGAAGGACAGGT 0.562000 9 84 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 137026271 137026271 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:137026271C>T ENST00000359015.4 - 3 949 c.588_splice c.e3-1 p.E197_splice NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 197 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CAAATTATTTCCTGAAAAACA 0.234000 5 30 0 0 1 0 0 LEP 3952 broad.mit.edu 37 7 127894610 127894610 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:127894610G>A ENST00000308868.4 + 3 349 c.298G>A c.(298-300)Gac>Aac p.D100N NM_000230.2 NP_000221.1 P41159 LEP_HUMAN leptin 100 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 AATATCCAACGACCTGGAGAA 0.567000 13 91 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36287142 36287142 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36287142C>T ENST00000437635.2 - 11 2091 c.1914G>A c.(1912-1914)gaG>gaA p.E638E NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 638 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CCGGCTGGTCCTCCCTGTATG 0.537000 21 91 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90411285 90411285 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:90411285G>A ENST00000369393.3 - 55 8534 c.8419C>T c.(8419-8421)Cct>Tct p.P2807S MDN1_ENST00000428876.1_Missense_Mutation_p.P2807S Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2807 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACCTTAAAAGGAAACGGTCGT 0.408000 12 72 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480669 57480669 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57480669G>A ENST00000371236.2 - 12 1594 c.1331C>T c.(1330-1332)tCc>tTc p.S444F DAB1_ENST00000371234.4_Missense_Mutation_p.S444F|DAB1_ENST00000420954.2_Missense_Mutation_p.S442F|DAB1_ENST00000371231.1_Missense_Mutation_p.S477F|DAB1_ENST00000414851.2_Missense_Mutation_p.S426F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.S358F O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 477 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GAAGTAACTGGAGAAGGCCTC 0.547000 9 75 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57931808 57931808 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:57931808C>T ENST00000564448.1 - 30 3029 c.2969G>A c.(2968-2970)gGc>gAc p.G990D CNGB1_ENST00000251102.8_Missense_Mutation_p.G996D Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 996 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CATCTCACGGCCGATCTCCCC 0.572000 10 127 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7673916 7673916 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7673916C>T ENST00000572933.1 + 26 5600 c.4140C>T c.(4138-4140)ctC>ctT p.L1380L DNAH2_ENST00000389173.2_Silent_p.L1380L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1380 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGACTCAGCTCGACATAGTAC 0.542000 7 54 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151780097 151780097 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:151780097C>T ENST00000356728.6 - 10 1499 c.1345G>A c.(1345-1347)Ggg>Agg p.G449R RORC_ENST00000392697.3_Missense_Mutation_p.G524R|RORC_ENST00000318247.6_Missense_Mutation_p.G470R|RORC_ENST00000480719.1_5'UTR NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 470 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CGAAGCTTCCCCTTGGGTGGC 0.557000 10 56 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333050 42333050 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42333050G>A ENST00000262418.6 - 14 1946 c.1791C>T c.(1789-1791)ttC>ttT p.F597F NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 597 Involved in anion transport.|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) CCTTGCCAGGGAAATAGGAGC 0.587000 7 50 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56410191 56410191 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56410191C>T ENST00000588751.1 - 10 2926 c.2902G>A c.(2902-2904)Gga>Aga p.G968R NLRP13_ENST00000342929.3_Missense_Mutation_p.G968R Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 968 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCTTCACTCCATCATCCTGA 0.458000 9 91 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2959073 2959073 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2959073G>A ENST00000396946.4 - 18 2846 c.2443C>T c.(2443-2445)Ctg>Ttg p.L815L NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 815 L -> P (in Ref. 1; AAG53402). positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGCGCGCACAGCCACTCGTGC 0.607000 Mis DLBCL 8 46 0 0 1 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399515 89399515 + RNA SNP C C T rs2848410 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:89399515C>T ENST00000479981.1 - 0 214 AGGGGCTTTCCCTGGTTTCTG 0.512000 10 137 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131515099 131515099 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:131515099G>A ENST00000291900.2 - 5 1182 c.776C>T c.(775-777)tCc>tTc p.S259F NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 259 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 GTAGTAGCTGGAGAGGCGGTC 0.577000 10 52 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45960796 45960796 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:45960796C>T ENST00000348697.2 + 15 1877 c.1730C>T c.(1729-1731)cCa>cTa p.P577L FBLN1_ENST00000442170.2_Missense_Mutation_p.P577L|FBLN1_ENST00000327858.6_Intron P23142 FBLN1_HUMAN fibulin 1 573 EGF-like 9; calcium-binding. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CAGAACACCCCAGCGGGATCA 0.537000 3 38 0 0 1 0 0 IFNL1 282618 broad.mit.edu 37 19 39788657 39788657 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:39788657C>T ENST00000333625.2 + 3 400 c.303C>T c.(301-303)gtC>gtT p.V101V NM_172140.1 NP_742152.1 interferon, lambda 1 CGCTGAAGGTCCTGGAGGCCG 0.637000 10 61 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229730571 229730571 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:229730571G>A ENST00000258281.2 - 5 1408 c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W TAF5L_ENST00000366676.1_Missense_Mutation_p.R415W NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 415 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) GGGTACGTCCGATCAAATGAC 0.547000 18 86 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599543 136599543 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:136599543C>T ENST00000531224.1 - 4 728 c.476G>A c.(475-477)cGa>cAa p.R159Q BCLAF1_ENST00000392348.2_Missense_Mutation_p.R157Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R159Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R157Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R157Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R159Q NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 159 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTGAGACCCTCGTCTTTTAGA 0.428000 15 166 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53957906 53957906 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:53957906C>T ENST00000396328.1 - 14 2064 c.1825G>A c.(1825-1827)Gat>Aat p.D609N WDR72_ENST00000557913.1_Missense_Mutation_p.D606N|WDR72_ENST00000360509.5_Missense_Mutation_p.D609N|WDR72_ENST00000559418.1_Missense_Mutation_p.D619N NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 609 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AGCTGTGAATCATCACAACAA 0.408000 7 56 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105510107 105510107 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:105510107G>A ENST00000276654.5 - 5 781 c.673C>T c.(673-675)Cgt>Tgt p.R225C LRP12_ENST00000424843.2_Missense_Mutation_p.R206C NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 225 LDL-receptor class A 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.R225S(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTGGTAAAACGGGATAAACAC 0.448000 10 75 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56864660 56864660 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:56864660T>A ENST00000520220.2 + 7 834 c.560T>A c.(559-561)aTt>aAt p.I187N LYN_ENST00000519728.1_Missense_Mutation_p.I208N NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 208 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) AGCGACATGATTAAACATTAC 0.328000 4 44 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117628210 117628210 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:117628210C>T ENST00000427718.2 - 1 126 c.52G>A c.(52-54)Gag>Aag p.E18K FBXO21_ENST00000330622.5_Missense_Mutation_p.E18K NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 18 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) gcggcctcctccgccagcgcc 0.741000 3 7 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101353791 101353791 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:101353791C>T ENST00000344327.3 - 5 1823 c.1399G>A c.(1399-1401)Ggc>Agc p.G467S TRPC6_ENST00000360497.4_Missense_Mutation_p.G412S|TRPC6_ENST00000532133.1_Missense_Mutation_p.G467S|TRPC6_ENST00000348423.4_Missense_Mutation_p.G351S NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 467 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGTTTTGTGCCTTCAAATCTG 0.433000 8 50 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341976 121341976 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121341976G>A ENST00000338040.4 + 3 2114 c.1700G>A c.(1699-1701)gGa>gAa p.G567E NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 567 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGTCATGGAGGAAAAAGCCAG 0.517000 36 96 0 0 1 0 0 IGHV3-9 28451 broad.mit.edu 37 14 106552703 106552703 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:106552703G>A ENST00000390600.2 - 0 106 TAGCCAAAAGGAAAATCCAGC 0.478000 15 57 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63959575 63959575 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:63959575A>T ENST00000373789.3 - 11 1328 c.1232T>A c.(1231-1233)aTg>aAg p.M411K RTKN2_ENST00000395265.1_Missense_Mutation_p.M432K|RTKN2_ENST00000315289.2_Missense_Mutation_p.M213K NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 411 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) CCGTGGTGACATAATCTCAAT 0.373000 5 60 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93964514 93964514 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:93964514C>T ENST00000369303.4 - 14 2567 c.2382_splice c.e14-1 p.G795_splice NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 795 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATTTTTCCACCCTGTTATAAA 0.358000 3 23 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460096 107460096 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:107460096G>A ENST00000409382.3 - 2 948 c.338C>T c.(337-339)tCa>tTa p.S113L ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S113L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S113L NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 113 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CACCTGGGATGAAAAAAACTC 0.562000 11 111 0 0 1 0 0 CA7 766 broad.mit.edu 37 16 66887392 66887392 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:66887392C>T ENST00000394069.3 + 7 1049 c.618C>T c.(616-618)ttC>ttT p.F206F CA7_ENST00000338437.2_Silent_p.F262F NM_001014435.1 NP_001014435.1 P43166 CAH7_HUMAN carbonic anhydrase VII 262 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AGGCCTCCTTCCGGGCCTGAG 0.597000 3 29 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228432124 228432124 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228432124G>A ENST00000570156.2 + 12 3683 c.3609G>A c.(3607-3609)ggG>ggA p.G1203G OBSCN_ENST00000422127.1_Silent_p.G1111G|OBSCN_ENST00000284548.11_Silent_p.G1111G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 147 Ig-like 12. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACAAGGATGGGAAGAAGCTGA 0.612000 8 83 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919457 48919457 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48919457C>T ENST00000310194.1 + 1 43 c.43C>T c.(43-45)Ctt>Ttt p.L15F OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 GTTCCTCCTCCTTGGGCTGTC 0.498000 16 156 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39503326 39503326 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39503326C>T ENST00000007735.3 - 4 781 c.737G>A c.(736-738)tGg>tAg p.W246* NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 246 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CGTGGCGAACCATTGCTCCAC 0.627000 4 43 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951656 130951656 + Silent SNP C C T rs139275097 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:130951656C>T ENST00000312988.7 - 4 859 c.759G>A c.(757-759)acG>acA p.T253T NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 253 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TCTGGAATTCCGTCAAGTCCA 0.597000 16 107 0 0 1 0 0 KLK10 5655 broad.mit.edu 37 19 51518161 51518161 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51518161G>A ENST00000309958.3 - 6 944 c.726C>T c.(724-726)atC>atT p.I242I KLK10_ENST00000391805.1_Silent_p.I242I|KLK10_ENST00000358789.3_Silent_p.I242I NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 242 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCCACGAGAGGATGCCTTGGA 0.547000 6 63 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76878049 76878049 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:76878049G>A ENST00000328299.3 + 3 718 c.570G>A c.(568-570)gaG>gaA p.E190E ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 190 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGACCACAGAGAAGCGCATGA 0.408000 4 54 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32421568 32421568 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:32421568C>T ENST00000332351.3 - 6 1308 c.1024G>A c.(1024-1026)Gat>Aat p.D342N WT1_ENST00000379079.2_Missense_Mutation_p.D130N|WT1_ENST00000530998.1_Missense_Mutation_p.D113N|WT1_ENST00000448076.3_Missense_Mutation_p.D342N NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 274 M -> R (in DDS). adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GTGTGGTTATCGCTCTCGTAC 0.542000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 4 19 0 0 1 0 0 OR10H5 284433 broad.mit.edu 37 19 15905007 15905007 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15905007G>A ENST00000308940.8 + 1 247 c.149G>A c.(148-150)tGg>tAg p.W50* NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 GCCACTGTCTGGAGCGAGCGC 0.602000 15 85 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94526105 94526105 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94526105C>T ENST00000370225.3 - 14 2234 c.2148G>A c.(2146-2148)acG>acA p.T716T ABCA4_ENST00000535735.1_Silent_p.T716T NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 716 T -> M (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGATGAATATCGTCAGGAGGA 0.458000 17 67 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860230 228860230 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228860230G>A ENST00000392056.3 - 8 4675 c.4629C>T c.(4627-4629)tcC>tcT p.S1543S SPHKAP_ENST00000344657.5_Silent_p.S1543S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1543 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) GGTACCTCATGGATCGCTCAC 0.483000 21 189 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746651 95746651 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:95746651C>T ENST00000311106.3 - 8 1159 c.922G>A c.(922-924)Gga>Aga p.G308R PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.G261R NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 308 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCCGTTTCCCGAAGCCCAG 0.512000 36 145 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153219622 153219622 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:153219622G>A ENST00000310441.7 - 17 5194 c.4228C>T c.(4228-4230)Cct>Tct p.P1410S HCFC1_ENST00000354233.3_Missense_Mutation_p.P1341S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P1410S NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1410 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTTGGGAAAGGAGCCAGCAGC 0.647000 9 35 0 0 1 0 0 CD55 1604 broad.mit.edu 37 1 207510695 207510695 + Missense_Mutation SNP C C T rs12135160 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:207510695C>T ENST00000367064.3 + 8 1259 c.1001C>T c.(1000-1002)tCc>tTc p.S334F CD55_ENST00000367062.4_Missense_Mutation_p.S334F|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Missense_Mutation_p.S334F|CD55_ENST00000391921.4_Missense_Mutation_p.S270F|CD55_ENST00000314754.8_Missense_Mutation_p.S334F|CD55_ENST00000367065.5_Missense_Mutation_p.S334F|CD55_ENST00000391920.4_Missense_Mutation_p.S334F|CD55_ENST00000465534.1_3'UTR NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 334 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) ACACCTGTTTCCAGGACAACC 0.423000 17 62 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20458106 20458106 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:20458106G>A ENST00000361078.2 - 15 2404 c.2382C>T c.(2380-2382)gcC>gcT p.A794A PUM2_ENST00000403432.1_Silent_p.A794A|PUM2_ENST00000319801.5_Silent_p.A715A|PUM2_ENST00000536417.1_Silent_p.A738A|PUM2_ENST00000338086.5_Silent_p.A794A Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 794 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTAGCCAGGGCTAATTTTT 0.398000 18 45 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769807 247769807 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247769807G>A ENST00000320002.2 + 1 952 c.920G>A c.(919-921)gGa>gAa p.G307E RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 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) CTTCTCTCGGGAAAATTGTGA 0.383000 6 44 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1104127 1104127 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1104127G>A ENST00000441003.2 + 49 8345 c.8318G>A c.(8317-8319)aGc>aAc p.S2773N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 5135 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) GTGGTCCTGAGCTGCCCCAAT 0.682000 6 25 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38078544 38078544 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:38078544C>T ENST00000356545.2 - 8 1462 c.675G>A c.(673-675)agG>agA p.R225R RSPO1_ENST00000401068.1_Silent_p.R225R|RSPO1_ENST00000401069.1_Silent_p.R225R|RSPO1_ENST00000401070.1_Silent_p.R162R|RSPO1_ENST00000401071.2_Silent_p.R162R|RSPO1_ENST00000373059.1_Silent_p.R198R NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 225 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGCCAGGTTCCTGTTGGCAT 0.607000 13 88 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780930 94780930 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94780930G>T ENST00000341584.3 - 2 202 c.56C>A c.(55-57)aCc>aAc p.T19N NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 19 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGCCTGGACGGTCCAGAGGCC 0.542000 21 114 3.62473e-10 3.66546e-10 1 1 0 FAM159A 348378 broad.mit.edu 37 1 53122529 53122529 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:53122529G>A ENST00000517870.1 + 3 540 c.390G>A c.(388-390)gtG>gtA p.V130V FAM159A_ENST00000401050.3_Intron NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 130 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 TGCCAAAAGTGAGCCCTCTCC 0.562000 18 86 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649963 102649963 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102649963C>T ENST00000279441.4 - 3 513 c.477G>A c.(475-477)atG>atA p.M159I NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 159 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CAAAAGAGATCATTATATCAG 0.403000 15 87 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57258330 57258330 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57258330C>T ENST00000343433.6 - 2 236 c.156G>A c.(154-156)ggG>ggA p.G52G C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 52 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 AGAGGGGTTTCCCATTGGCCA 0.483000 26 189 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65412046 65412046 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:65412046C>T ENST00000519389.1 + 7 1479 c.1300C>T c.(1300-1302)Cga>Tga p.R434* HEPH_ENST00000441993.2_Nonsense_Mutation_p.R383*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R380*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R383*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R383*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R113* Q9BQS7 HEPH_HUMAN hephaestin 380 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AGGCAAAGTTCGACAGTACTT 0.522000 11 25 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2774880 2774880 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2774880C>T ENST00000380605.2 - 14 2225 c.2161G>A c.(2161-2163)Gac>Aac p.D721N NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 721 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CTGCGAAGGTCCGGGGGCACC 0.622000 12 79 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027678 161027678 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161027678C>T ENST00000447678.1 - 18 2736 c.2616G>A c.(2614-2616)atG>atA p.M872I LPA_ENST00000316300.5_Missense_Mutation_p.M872I NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3380 Kringle 8. 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) TGCAGTAGTTCATGATCAAGC 0.517000 20 154 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38950766 38950766 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38950766G>A ENST00000357387.3 - 31 3214 c.3184C>T c.(3184-3186)Ctt>Ttt p.L1062F RICTOR_ENST00000296782.5_Missense_Mutation_p.L1062F NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1062 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTGATATCAAGGAAAAATGTG 0.348000 7 77 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203807494 203807494 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:203807494C>T ENST00000320443.8 + 4 1153 c.110C>T c.(109-111)tCc>tTc p.S37F CARF_ENST00000471271.1_3'UTR|CARF_ENST00000438828.2_Missense_Mutation_p.S37F|CARF_ENST00000444724.1_Missense_Mutation_p.S37F|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.S37F|CARF_ENST00000456821.2_Missense_Mutation_p.S25F|CARF_ENST00000545253.1_Intron calcium responsive transcription factor AGGGATTCTTCCTTTGGACAA 0.353000 8 23 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39578648 39578648 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39578648G>A ENST00000225550.3 - 4 770 c.771C>T c.(769-771)ttC>ttT p.F257F AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 257 Linker 12.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GCTCGATCCGGAACTTCTCCC 0.557000 15 172 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87060767 87060767 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87060767C>T ENST00000265723.4 - 15 1957 c.1846G>A c.(1846-1848)Gaa>Aaa p.E616K ABCB4_ENST00000545634.1_Missense_Mutation_p.E616K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E616K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E616K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E616K NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 616 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.E616K(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCATCAGTTCGCTGTGGCTT 0.453000 18 101 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74834197 74834197 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:74834197C>T ENST00000290536.5 - 4 696 c.580G>A c.(580-582)Gat>Aat p.D194N M1AP_ENST00000536235.1_Missense_Mutation_p.D194N|M1AP_ENST00000409585.1_Missense_Mutation_p.D194N|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein TTGCTGGTATCCTCAACAGGA 0.423000 7 64 0 0 1 0 0 ITGA3 3675 broad.mit.edu 37 17 48149449 48149449 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48149449C>T ENST00000320031.8 + 7 1389 c.1059C>T c.(1057-1059)ttC>ttT p.F353F ITGA3_ENST00000007722.7_Silent_p.F353F|ITGA3_ENST00000544892.1_Silent_p.F128F NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 353 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 GAACCTCCTTCCCTGCTCACC 0.567000 17 59 0 0 1 0 0 COL10A1 1300 broad.mit.edu 37 6 116442585 116442585 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:116442585C>T ENST00000327673.4 - 2 1101 c.694G>A c.(694-696)Ggc>Agc p.G232S AL121963.1_ENST00000430695.1_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G232S|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 232 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CCTTTGATGCCTGGCTGTCCT 0.587000 7 58 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43156451 43156451 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43156451G>A ENST00000252050.4 + 8 2262 c.2178G>A c.(2176-2178)ctG>ctA p.L726L CUL9_ENST00000354495.3_Silent_p.L616L|CUL9_ENST00000372647.2_Silent_p.L726L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 726 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 ACAGATCGCTGAGGTTAGCAT 0.547000 4 44 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467514 74467514 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:74467514C>T ENST00000249842.3 + 2 672 c.315C>T c.(313-315)ctC>ctT p.L105L RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L105L NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 105 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCCTGGACCTCAGCCACAATC 0.607000 4 43 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032495 65032495 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:65032495G>A ENST00000394156.3 - 4 946 c.493C>T c.(493-495)Cat>Tat p.H165Y CDH11_ENST00000268603.4_Missense_Mutation_p.H165Y|CDH11_ENST00000566827.1_Missense_Mutation_p.H39Y P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 165 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACGTTGGCATGATAGGTCTCG 0.597000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 72 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39174638 39174638 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:39174638C>T ENST00000301819.6 + 20 2859 c.2682C>T c.(2680-2682)atC>atT p.I894I TTC21A_ENST00000440121.1_Silent_p.I845I|TTC21A_ENST00000431162.2_Silent_p.I893I|TTC21A_ENST00000493856.1_3'UTR NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 893 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CTATCTGCATCCAATTTGCAG 0.498000 13 29 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87235216 87235216 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:87235216C>T ENST00000297524.3 - 2 905 c.802G>A c.(802-804)Gaa>Aaa p.E268K SLC7A13_ENST00000419776.2_Missense_Mutation_p.E259K|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 268 integral to membrane amino acid transmembrane transporter activity p.E268K(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GAGAGAATTTCCCTGGGTGTC 0.383000 14 60 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525925 176525925 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176525925C>T ENST00000367662.3 + 2 1631 c.467C>T c.(466-468)tCt>tTt p.S156F PAPPA2_ENST00000367661.3_Missense_Mutation_p.S156F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 156 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 TCCAAGGAGTCTCTAGGTGAG 0.547000 12 95 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39975505 39975505 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39975505C>T ENST00000321562.4 + 5 875 c.771C>T c.(769-771)ctC>ctT p.L257L NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 257 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) TTCACGTCCTCCTGATTGACG 0.627000 12 123 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150905410 150905410 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:150905410G>A ENST00000261800.5 - 17 10437 c.10425C>T c.(10423-10425)ttC>ttT p.F3475F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3475 Cadherin 31. 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) GGGTCACTCGGAAGGCAGAGC 0.577000 7 68 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357402 36357402 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36357402C>T ENST00000347900.6 + 15 1926 c.1716C>T c.(1714-1716)ttC>ttT p.F572F KIRREL2_ENST00000592409.1_3'UTR|KIRREL2_ENST00000262625.7_Silent_p.F622F|KIRREL2_ENST00000360202.5_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000586102.2_3'UTR NM_199179.2 NP_954648.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 0 cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGACATCTTTCCAATGGAAGA 0.552000 11 141 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677071 100677071 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100677071G>A ENST00000306151.4 + 3 2438 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 792 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACAACCACTGAAGGTACCAG 0.483000 29 356 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231930 21231930 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21231930G>A ENST00000233242.1 - 26 7937 c.7810C>T c.(7810-7812)Ctt>Ttt p.L2604F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2604 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAGCCTGAAGACTGACTTCA 0.433000 15 73 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10615052 10615052 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:10615052G>A ENST00000547195.1 - 16 2389 c.1889C>T c.(1888-1890)tCc>tTc p.S630F MRVI1_ENST00000424001.1_Missense_Mutation_p.S406F|MRVI1_ENST00000531107.1_Missense_Mutation_p.S713F|MRVI1_ENST00000552103.1_Missense_Mutation_p.S630F|MRVI1_ENST00000558540.1_Missense_Mutation_p.S406F|MRVI1_ENST00000545852.1_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.S712F|MRVI1_ENST00000423302.2_Missense_Mutation_p.S721F|MRVI1_ENST00000541483.1_Missense_Mutation_p.S515F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S630F|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.S406F|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.S694F NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 694 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GGCTGGTAAGGAGGGAATGGA 0.522000 5 58 0 0 1 0 0 SERAC1 84947 broad.mit.edu 37 6 158571503 158571503 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:158571503C>G ENST00000367102.2 - 4 388 c.247G>C c.(247-249)Gac>Cac p.D83H SERAC1_ENST00000367104.3_Missense_Mutation_p.D83H|SERAC1_ENST00000607000.1_Missense_Mutation_p.D83H|SERAC1_ENST00000367101.1_Missense_Mutation_p.D83H Q96JX3 SRAC1_HUMAN serine active site containing 1 83 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TCTCCTTTGTCTAAAGAAACT 0.328000 4 36 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31267642 31267642 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:31267642C>T ENST00000265071.2 + 2 327 c.62C>T c.(61-63)tCa>tTa p.S21L CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 21 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 CCAACTCTCTCAACTCCACTA 0.522000 12 107 0 0 1 0 0 C5orf30 90355 broad.mit.edu 37 5 102611671 102611671 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:102611671C>T ENST00000319933.2 + 3 359 c.51C>T c.(49-51)ccC>ccT p.P17P C5orf30_ENST00000515669.1_Silent_p.P17P|C5orf30_ENST00000510890.1_Silent_p.P17P NM_033211.2 NP_149988.1 Q96GV9 CE030_HUMAN chromosome 5 open reading frame 30 17 NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) CCACCTTGCCCTTCCCTGGGG 0.547000 5 38 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852968 40852968 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:40852968C>T ENST00000254691.5 + 3 1733 c.1534C>T c.(1534-1536)Cct>Tct p.P512S CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 512 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 ATGGTGTTTTCCTGATAGCGA 0.418000 13 68 0 0 1 0 0 RNASE1 6035 broad.mit.edu 37 14 21269993 21269993 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:21269993G>A ENST00000397967.4 - 2 741 c.235C>T c.(235-237)Ctg>Ttg p.L79L RNASE1_ENST00000555698.1_Silent_p.L39L|RNASE1_ENST00000412779.2_Silent_p.L79L|RNASE1_ENST00000397970.4_Silent_p.L79L|RNASE1_ENST00000340900.3_Silent_p.L79L NM_002933.4 NP_002924.1 P07998 RNAS1_HUMAN ribonuclease, RNase A family, 1 (pancreatic) 79 extracellular region nucleic acid binding|pancreatic ribonuclease activity|protein binding central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 5 all_cancers(95;0.00671) all_lung(585;0.235) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) ACATCTACCAGGGGCTCGTGC 0.542000 11 97 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96412327 96412327 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:96412327C>T ENST00000602402.1 + 6 697 c.580C>T c.(580-582)Cga>Tga p.R194* DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.R143* NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 194 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ACGGGAACTTCGAGCTGAATG 0.353000 5 33 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25486968 25486968 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:25486968G>A ENST00000453082.2 + 0 2156 SNORD115-39_ENST00000363694.1_RNA NR_003343.1 GGATTACGCTGAGGCCCAGCC 0.488000 26 294 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169253 138169253 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:138169253G>A ENST00000409968.1 + 14 2948 c.2770G>A c.(2770-2772)Gat>Aat p.D924N THSD7B_ENST00000413152.2_Missense_Mutation_p.D893N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D924N|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATGTCCTTGTGATGAATTTAT 0.453000 17 77 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598689 151598689 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:151598689C>T ENST00000362032.4 + 3 463 c.358C>T c.(358-360)Cga>Tga p.R120* RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 120 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) CAGCATAGATCGATACTTGAT 0.383000 26 48 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189034 140189034 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140189034G>A ENST00000530339.1 + 1 2262 c.2262G>A c.(2260-2262)agG>agA p.R754R PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.R754R|PCDHA4_ENST00000512229.2_Silent_p.R754R NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCAGAGGAGGCCGAGGG 0.657000 6 72 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940274 144940274 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144940274G>T ENST00000525985.1 - 2 7219 c.7148C>A c.(7147-7149)aCc>aAc p.T2383N P58107 EPIPL_HUMAN epiplakin 1 2383 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAAGCCCTTGGTGTCGTCGCT 0.652000 9 511 1.58986e-06 1.60467e-06 1 1 0 FAM186B 84070 broad.mit.edu 37 12 49994286 49994286 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:49994286T>C ENST00000544141.1 - 4 1466 c.867A>G c.(865-867)atA>atG p.I289M FAM186B_ENST00000257894.2_Missense_Mutation_p.I379M|PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 379 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTGTCCCGTATCATGGCCA 0.572000 14 69 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134621 128134621 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128134621A>T ENST00000368250.1 - 5 1426 c.928T>A c.(928-930)Ttt>Att p.F310I THEMIS_ENST00000368248.2_Missense_Mutation_p.F389I|THEMIS_ENST00000543064.1_Missense_Mutation_p.F389I|THEMIS_ENST00000537166.1_Missense_Mutation_p.F354I Q8N1K5 THMS1_HUMAN thymocyte selection associated 389 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TGCACCAGAAACTGGTCCCCA 0.468000 10 68 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18258227 18258227 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:18258227C>T ENST00000286479.3 + 2 821 c.714C>T c.(712-714)atC>atT p.I238I NAT2_ENST00000520116.1_Silent_p.I108I NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 238 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TGGGCTTCATCCTCACCTATA 0.383000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 5 47 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47043253 47043253 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:47043253C>T ENST00000450053.3 + 30 4898 c.4719C>T c.(4717-4719)ctC>ctT p.L1573L NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.L1389L NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1573 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAGCTGATCTCCGTGAGATGG 0.597000 5 69 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714602 55714602 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55714602C>A ENST00000379668.2 + 1 257 c.219C>A c.(217-219)acC>acA p.T73T NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 CGTTCACAACCGTCAGTATAC 0.383000 8 46 0.0381472 0.0382113 1 1 0 MAEL 84944 broad.mit.edu 37 1 166973433 166973433 + Silent SNP G G A rs142019908 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:166973433G>A ENST00000367872.4 + 6 784 c.540G>A c.(538-540)aaG>aaA p.K180K MAEL_ENST00000367870.2_Silent_p.K149K|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 180 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CTAGTCACAAGATTCCTATTT 0.388000 10 72 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76471044 76471044 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:76471044G>A ENST00000396423.2 + 8 989 c.865G>A c.(865-867)Ggg>Agg p.G289R HNF4G_ENST00000354370.1_Missense_Mutation_p.G252R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 252 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGATGCAAAAGGGCTAAGCGA 0.383000 8 34 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121725998 121725998 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121725998G>A ENST00000273691.3 - 2 174 c.69C>T c.(67-69)tcC>tcT p.S23S ILDR1_ENST00000344209.5_Silent_p.S23S|ILDR1_ENST00000393631.1_Silent_p.S23S|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.S35S NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 23 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) TCACAAGCAAGGACAGGCACC 0.502000 4 49 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67125848 67125848 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:67125848G>A ENST00000284425.2 - 7 1010 c.836C>T c.(835-837)tCc>tTc p.S279F NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 279 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) AACGAATATGGAAATAATAAA 0.274000 5 41 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49224068 49224068 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49224068G>A ENST00000222145.4 - 12 3083 c.2879C>T c.(2878-2880)gCc>gTc p.A960V NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 960 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGGAGACGTGGCCACGGGAGG 0.607000 17 174 0 0 1 0 0 GATA1 2623 broad.mit.edu 37 X 48651592 48651592 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:48651592G>A ENST00000376670.3 + 5 869 c.758G>A c.(757-759)cGg>cAg p.R253Q GATA1_ENST00000376665.3_Missense_Mutation_p.R253Q NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 253 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GTCAGTAAACGGGCAGGTACT 0.592000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 12 9 0 0 1 0 0 SLC26A1 10861 broad.mit.edu 37 4 985223 985223 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:985223T>C ENST00000361661.2 - 3 646 c.269A>G c.(268-270)tAc>tGc p.Y90C SLC26A1_ENST00000398520.2_Missense_Mutation_p.Y90C|SLC26A1_ENST00000398516.2_Missense_Mutation_p.Y90C|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 90 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CAGCAATGAGTAGGCGATGGC 0.627000 23 82 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47847266 47847266 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:47847266C>T ENST00000339488.4 - 3 1347 c.1314G>A c.(1312-1314)acG>acA p.T438T NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 438 integral to membrane hedgehog receptor activity GGTAGGGGTTCGTCTCATGAT 0.448000 17 65 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217107 150217107 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150217107G>A ENST00000313543.4 + 2 202 c.45G>A c.(43-45)ggG>ggA p.G15G NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 15 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCTGGTAGGGAAAACTGGAA 0.498000 11 46 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1561106 1561106 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:1561106G>A ENST00000416733.2 - 2 232 c.35C>T c.(34-36)cCc>cTc p.P12L ASMTL_ENST00000381317.3_Silent_p.A66A|ASMTL_ENST00000381333.4_Silent_p.A66A|ASMTL_ENST00000534940.1_Silent_p.A8A O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 0 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCACCTCCAGGGCCTTCTGCT 0.562000 33 118 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24083481 24083481 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:24083481C>T ENST00000418390.2 + 10 2472 c.2201C>T c.(2200-2202)gCt>gTt p.A734V NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 734 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGCAGCCATGCTTCCGCCAGT 0.582000 20 272 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41664932 41664932 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:41664932G>A ENST00000313860.7 + 15 2121 c.2067G>A c.(2065-2067)tcG>tcA p.S689S LIMCH1_ENST00000396595.3_Silent_p.S535S|LIMCH1_ENST00000511496.1_Silent_p.S530S|LIMCH1_ENST00000514096.1_Silent_p.S530S|LIMCH1_ENST00000503057.1_Silent_p.S1074S|LIMCH1_ENST00000509277.1_Silent_p.S523S|LIMCH1_ENST00000513024.1_Silent_p.S518S|LIMCH1_ENST00000512946.1_Silent_p.S689S|LIMCH1_ENST00000512632.1_Silent_p.S689S|LIMCH1_ENST00000508501.1_Silent_p.S689S|LIMCH1_ENST00000512820.1_Silent_p.S677S|LIMCH1_ENST00000381753.4_Silent_p.S523S NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 689 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATGATGTGTCGGAAGAAAAAG 0.478000 9 38 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10568644 10568644 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:10568644C>T ENST00000380702.2 + 9 901 c.901C>T c.(901-903)Ccg>Tcg p.P301S PDE4A_ENST00000293683.5_Missense_Mutation_p.P297S|PDE4A_ENST00000440014.2_Missense_Mutation_p.P262S|PDE4A_ENST00000592685.1_Missense_Mutation_p.P301S|PDE4A_ENST00000344979.3_Missense_Mutation_p.P84S|PDE4A_ENST00000352831.6_Missense_Mutation_p.P323S P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 323 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CCAGCCGCCCCCGCCCCCTGT 0.517000 15 73 0 0 1 0 0 GNPDA2 132789 broad.mit.edu 37 4 44713037 44713037 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:44713037C>T ENST00000509756.1 - 5 633 c.527G>A c.(526-528)gGa>gAa p.G176E GNPDA2_ENST00000507917.1_Missense_Mutation_p.G142E|GNPDA2_ENST00000507534.1_Missense_Mutation_p.G106E|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Missense_Mutation_p.G176E Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 176 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 TGATAAATCTCCATCAAAATA 0.388000 11 62 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934106 10934106 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:10934106C>T ENST00000298232.7 - 15 1184 c.817G>A c.(817-819)Gat>Aat p.D273N TPTE_ENST00000342420.5_Missense_Mutation_p.D253N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.D291N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 291 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D291Y(2)|p.D273Y(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGCTTAGGATCGTAAGCTCTT 0.308000 8 98 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224482 15224482 + Missense_Mutation SNP G G A rs139561208 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15224482G>A ENST00000600252.1 + 5 2529 c.887G>A c.(886-888)gGt>gAt p.G296D SYDE1_ENST00000342784.2_Missense_Mutation_p.G639D|SYDE1_ENST00000600440.1_Missense_Mutation_p.G572D Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 639 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CGGCCCCGCGGTCGAGGAGGC 0.687000 14 167 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111020119 111020119 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:111020119C>T ENST00000262839.2 - 11 3262 c.2344G>A c.(2344-2346)Gat>Aat p.D782N NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 782 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 TCATTATTATCGTCTCTCTGA 0.468000 52 163 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131639117 131639117 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:131639117G>A ENST00000368648.3 - 14 1597 c.1525C>T c.(1525-1527)Ccc>Tcc p.P509S EBF3_ENST00000355311.5_Missense_Mutation_p.P518S NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 518 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTGCCGTAGGGAGAGTTAGCG 0.507000 8 84 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648950 169648950 + Silent SNP G G A rs139930955 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:169648950G>A ENST00000366787.3 - 4 420 c.171C>T c.(169-171)ttC>ttT p.F57F NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 57 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAAAGCGCACGAAGCGGTAAG 0.592000 15 61 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22586275 22586275 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:22586275G>A ENST00000357774.5 - 2 191 c.70C>T c.(70-72)Ctg>Ttg p.L24L ZNF98_ENST00000601553.1_Silent_p.L24L NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CACTCCTCCAGAGAGAATTCT 0.398000 16 95 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44120386 44120386 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:44120386C>T ENST00000259746.9 + 20 2076 c.1893C>T c.(1891-1893)ttC>ttT p.F631F TMEM63B_ENST00000323267.6_Silent_p.F631F Q5T3F8 TM63B_HUMAN transmembrane protein 63B 631 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) TGTGCGTCTTCACGGTGGTCA 0.662000 OREG0017465 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091661 9091661 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9091661C>T ENST00000397910.4 - 1 357 c.154G>A c.(154-156)Gaa>Aaa p.E52K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 52 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 AGAGTATGTTCTGTCACCACG 0.522000 12 44 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956442 128956442 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:128956442G>A ENST00000274487.4 + 9 1737 c.1592G>A c.(1591-1593)aGa>aAa p.R531K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 531 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GATTTGGAAAGATTTCTCAGG 0.398000 16 149 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501177 195501177 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:195501177C>T ENST00000463781.3 - 4 13403 c.e4-1 MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGGAAACTCCTGGGCCAGGA 0.632000 14 43 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7950179 7950179 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:7950179C>T ENST00000309838.2 - 1 30 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGATGAATTCAACCACACAG 0.408000 11 60 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110098156 110098156 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:110098156C>T ENST00000230124.3 + 16 1906 c.1782C>T c.(1780-1782)ttC>ttT p.F594F FIG4_ENST00000441478.2_Silent_p.F317F NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 594 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) TTAATCTCTTCCTGGGAGTTT 0.353000 6 36 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117182136 117182136 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:117182136G>A ENST00000003084.6 + 9 1315 c.1183G>A c.(1183-1185)Gag>Aag p.E395K CFTR_ENST00000454343.1_Missense_Mutation_p.E395K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 395 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGTAGTGATGGAGAATGTAAC 0.308000 Cystic Fibrosis 11 25 0 0 1 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528252 77528252 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:77528252C>T ENST00000373304.3 - 3 1284 c.992G>A c.(991-993)gGa>gAa p.G331E NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 331 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity p.G331E(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) TATTTCTTCTCCTTTTTCTGG 0.348000 11 21 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 71535205 71535205 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:71535205G>A ENST00000355327.3 + 5 816 c.682G>A c.(682-684)Gac>Aac p.D228N THSD4_ENST00000261862.6_Missense_Mutation_p.D228N Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 228 TSP type-1 1. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GTACCAAAGTGACAGTGGCCC 0.582000 8 65 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111215820 111215820 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:111215820T>C ENST00000369769.2 - 1 1835 c.1612A>G c.(1612-1614)Aac>Gac p.N538D NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 538 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGCTATGGTTCATACCCCCC 0.502000 18 75 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74637392 74637392 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:74637392G>A ENST00000358632.4 - 3 839 c.144C>T c.(142-144)gcC>gcT p.A48A CYP11A1_ENST00000268053.6_Silent_p.A206A|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Silent_p.A48A NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 206 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TACACTCAAAGGCAAAGCGGA 0.577000 3 48 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480745 57480745 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57480745G>A ENST00000371236.2 - 12 1518 c.1255C>T c.(1255-1257)Cag>Tag p.Q419* DAB1_ENST00000371234.4_Nonsense_Mutation_p.Q419*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.Q417*|DAB1_ENST00000371231.1_Nonsense_Mutation_p.Q452*|DAB1_ENST00000414851.2_Nonsense_Mutation_p.Q401*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Nonsense_Mutation_p.Q333* O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 452 cell differentiation|nervous system development p.Q419K(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 TGGGCCATCTGGAAATCCTTA 0.597000 14 66 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963820 88963820 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:88963820G>A ENST00000333190.4 + 4 2133 c.1524G>A c.(1522-1524)ttG>ttA p.L508L NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 508 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCTTGGAATTGAAGACTAAAA 0.378000 HNSCC(36;0.09) 7 65 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34055265 34055265 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:34055265C>T ENST00000397527.1 + 9 1456 c.736C>T c.(736-738)Ctg>Ttg p.L246L CEP250_ENST00000397524.1_Silent_p.L246L|CEP250_ENST00000342580.4_Silent_p.L246L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 246 Poly-Leu. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCCGGCCCAGCTGCTGCTGCT 0.572000 14 113 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085435 9085435 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9085435G>A ENST00000397910.4 - 1 6583 c.6380C>T c.(6379-6381)tCg>tTg p.S2127L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2127 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCTGTGACCGAGGATGCATC 0.493000 7 131 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152466683 152466683 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152466683C>T ENST00000448038.1 - 138 25372 c.24771G>A c.(24769-24771)atG>atA p.M8257I SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.M8257I|SYNE1_ENST00000354674.4_Missense_Mutation_p.M483I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000367255.5_Intron Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8324 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) TTTCGGGGATCATTACATCTG 0.468000 HNSCC(10;0.0054) 13 60 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 429765 429765 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:429765C>T ENST00000432829.2 + 36 4649 c.4333C>T c.(4333-4335)Cac>Tac p.H1445Y DOCK8_ENST00000469391.1_Missense_Mutation_p.H1413Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.H1513Y|DOCK8_ENST00000382329.1_Missense_Mutation_p.H980Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1513 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCAAGTCCTGCACCACTGCAG 0.512000 6 41 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24445675 24445675 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:24445675C>T ENST00000398319.2 + 7 1034 c.649C>T c.(649-651)Ctc>Ttc p.L217F CABIN1_ENST00000263119.5_Missense_Mutation_p.L217F|CABIN1_ENST00000405822.2_Missense_Mutation_p.L217F NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 217 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CAGAATGTTCCTCAAATGGTA 0.532000 4 65 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055847 167055847 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:167055847C>T ENST00000303354.6 - 27 5645 c.5305G>A c.(5305-5307)Gaa>Aaa p.E1769K AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1757K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1768K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1769K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1768 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) GTACTTTCTTCAGTGGCAACA 0.393000 11 114 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31856801 31856801 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31856801G>A ENST00000395728.3 - 9 1331 c.1332C>T c.(1330-1332)gtC>gtT p.V444V EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Silent_p.V387V|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375528.4_Intron Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 387 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ACCCCAGAGGGACCTCCATGT 0.637000 5 18 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55889999 55889999 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55889999C>T ENST00000313472.3 + 1 151 c.151C>T c.(151-153)Cgc>Tgc p.R51C NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATTGATAATCCGCCTGGACCT 0.438000 23 190 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98493390 98493390 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:98493390C>T ENST00000359863.4 + 7 663 c.454C>T c.(454-456)Cat>Tat p.H152Y TRRAP_ENST00000446306.3_Missense_Mutation_p.H152Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.H152Y NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 152 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTTTTAGATTCATCATTTTCT 0.279000 3 9 0 0 1 0 0 USP6NL 9712 broad.mit.edu 37 10 11505081 11505081 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:11505081G>A ENST00000379237.1 - 15 2240 c.1846C>T c.(1846-1848)Ccg>Tcg p.P616S USP6NL_ENST00000277575.5_Missense_Mutation_p.P633S NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 616 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 AGCTGGGACGGATATCGTGCA 0.527000 7 40 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137304579 137304579 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:137304579C>T ENST00000453654.1 - 8 623 c.84G>A c.(82-84)aaG>aaA p.K28K DGKI_ENST00000288490.5_Silent_p.K328K|DGKI_ENST00000424189.2_Silent_p.K328K|DGKI_ENST00000446122.1_Silent_p.K328K O75912 DGKI_HUMAN diacylglycerol kinase, iota 328 Poly-Ala. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CCTGAGGTTTCTTCACCTTAA 0.517000 27 85 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51007791 51007791 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:51007791G>A ENST00000360719.2 - 19 2432 c.2295C>T c.(2293-2295)ttC>ttT p.F765F CPT1B_ENST00000440709.1_Silent_p.F684F|CPT1B_ENST00000457250.1_Silent_p.F731F|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.F560F|CPT1B_ENST00000395650.2_Silent_p.F765F|CPT1B_ENST00000405237.3_Silent_p.F765F|CPT1B_ENST00000312108.7_Silent_p.F765F NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 765 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TGGGAACTTGGAAAAGATCAG 0.547000 7 113 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52428491 52428491 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:52428491G>A ENST00000420323.2 + 67 10898 c.10637G>A c.(10636-10638)cGa>cAa p.R3546Q NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3611 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTGAGTGGCGATACCTCCTG 0.632000 5 16 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72324144 72324144 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:72324144G>A ENST00000263563.6 + 19 2555 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGAGGCGCAAGAAATGCGGAG 0.617000 9 78 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745253 140745253 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140745253C>T ENST00000518069.1 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCCAATTTCCCTCAAGCCT 0.522000 13 130 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147120155 147120155 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:147120155C>T ENST00000369238.5 - 9 1483 c.1036G>A c.(1036-1038)Ggg>Agg p.G346R ACP6_ENST00000460583.1_5'UTR NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 346 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TCAAAAATCCCCAGGGTCATT 0.483000 4 82 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47558817 47558817 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:47558817C>T ENST00000397748.1 - 11 1324 c.1281G>A c.(1279-1281)aaG>aaA p.K427K FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Silent_p.K427K|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000291670.5_Silent_p.K427K|FTCD_ENST00000359679.2_Silent_p.K427K O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 427 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAGGTGTGTTCTTGGGGAGCC 0.632000 7 74 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9049971 9049971 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9049971G>A ENST00000397910.4 - 5 31863 c.31660C>T c.(31660-31662)Ccc>Tcc p.P10554S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10556 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 GTTGTCCTGGGAAGAGCTGTG 0.488000 44 172 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49448514 49448514 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:49448514C>T ENST00000374201.3 - 6 891 c.589G>A c.(589-591)Gaa>Aaa p.E197K FRMPD2_ENST00000407470.4_Missense_Mutation_p.E166K|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E173K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 197 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GAGGAGCTTTCCTCCACAACT 0.557000 4 37 0 0 1 0 0 EFNA5 1946 broad.mit.edu 37 5 106762982 106762982 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:106762982G>A ENST00000333274.6 - 2 635 c.354C>T c.(352-354)ttC>ttT p.F118F EFNA5_ENST00000509503.1_Silent_p.F118F NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 118 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) TGAAGAGCTGGAATTTTTCAG 0.463000 5 68 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783022 43783022 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:43783022C>T ENST00000372476.3 + 15 2641 c.2562C>T c.(2560-2562)atC>atT p.I854I TIE1_ENST00000433781.2_Silent_p.I499I|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 854 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCCAGGTCATCCGGGCCATGA 0.602000 7 114 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117561029 117561029 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:117561029C>T ENST00000256652.4 + 6 1922 c.1864C>T c.(1864-1866)Cgt>Tgt p.R622C CD101_ENST00000369470.1_Missense_Mutation_p.R622C NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 622 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTCTTTATTTCGTTCACAACT 0.448000 35 96 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2953287 2953287 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:2953287T>C ENST00000380520.1 - 4 2558 c.564A>G c.(562-564)aaA>aaG p.K188K SERPINB6_ENST00000380546.3_Silent_p.K188K|SERPINB6_ENST00000380539.1_Silent_p.K188K|SERPINB6_ENST00000380524.1_Silent_p.K188K|SERPINB6_ENST00000380529.1_Silent_p.K188K|SERPINB6_ENST00000335686.5_Silent_p.K188K P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 188 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CCTTGCTGACTTTAAACAGTC 0.567000 OREG0017145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 246 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33684578 33684578 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:33684578G>A ENST00000346562.2 + 2 315 c.241G>A c.(241-243)Gac>Aac p.D81N NPAS3_ENST00000548645.1_Missense_Mutation_p.D81N|NPAS3_ENST00000356141.4_Missense_Mutation_p.D111N|NPAS3_ENST00000551492.1_Missense_Mutation_p.D118N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D81N|NPAS3_ENST00000547068.1_Missense_Mutation_p.D9N|NPAS3_ENST00000551008.1_Missense_Mutation_p.D9N|NPAS3_ENST00000341321.4_Missense_Mutation_p.D111N NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 111 Helix-loop-helix motif. PLP -> LS (in Ref. 4; CAB45154). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TAACCAGGGGGACCCTCCGTG 0.483000 11 51 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117228572 117228572 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:117228572G>A ENST00000362057.3 - 3 1106 c.938C>T c.(937-939)tCt>tTt p.S313F DFNB31_ENST00000265134.6_5'UTR NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 313 PDZ 2. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTCTGCTTCAGAGCCTGGGTC 0.602000 11 68 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67293376 67293376 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:67293376A>G ENST00000392676.3 - 10 1456 c.1392T>C c.(1390-1392)atT>atC p.I464I ABCA5_ENST00000392677.2_Silent_p.I464I|ABCA5_ENST00000588877.1_Silent_p.I464I Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 464 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTGGCTCAATAATTTCACTAA 0.313000 6 47 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020545 56020545 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56020545G>A ENST00000303059.3 + 1 870 c.870G>A c.(868-870)atG>atA p.M290I NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M290I(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TCAGTTATATGAGACCAAGTT 0.403000 12 69 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132939660 132939660 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:132939660G>A ENST00000265342.7 - 2 264 c.15C>T c.(13-15)ggC>ggT p.G5G NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 5 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCAGCCAAAAGCCTCCTGGTT 0.498000 6 41 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237141 43237141 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43237141G>A ENST00000327495.5 - 3 688 c.504C>T c.(502-504)acC>acT p.T168T PSG3_ENST00000595140.1_Silent_p.T168T NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 168 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CAGGATCACAGGTTAAGCTCA 0.527000 43 254 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816646 90816646 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:90816646G>A ENST00000394980.1 + 2 843 c.524G>A c.(523-525)gGa>gAa p.G175E MMRN1_ENST00000264790.2_Missense_Mutation_p.G175E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G141E Q13201 MMRN1_HUMAN multimerin 1 175 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) ggaggcGTGGGAAATCGAGCC 0.498000 5 39 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99489852 99489852 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99489852G>A ENST00000355947.2 - 7 1566 c.1437C>T c.(1435-1437)ctC>ctT p.L479L TRIM4_ENST00000349062.2_Silent_p.L453L NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 479 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) AAAATGGCCGGAGGCGTGAGA 0.502000 30 77 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475892 32475892 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:32475892G>A ENST00000404025.2 - 5 1529 c.1041C>T c.(1039-1041)atC>atT p.I347I NLRC4_ENST00000360906.5_Silent_p.I347I|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.I347I Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 347 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CACCCATCTGGATTGCACAAG 0.433000 4 26 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606700 55606700 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55606700C>T ENST00000378396.1 + 1 473 c.473C>T c.(472-474)tCc>tTc p.S158F NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S158F(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GTCGCATGTTCCCTGACACTC 0.448000 4 51 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35943078 35943078 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:35943078C>T ENST00000216127.4 + 2 864 c.222C>T c.(220-222)acC>acT p.T74T NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 74 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 TCCTGGATACCTCTGGCAACC 0.632000 5 62 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043303 117043303 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:117043303G>A ENST00000371876.1 - 4 3595 c.1174C>T c.(1174-1176)Ctg>Ttg p.L392L KLHL13_ENST00000539496.1_Silent_p.L446L|KLHL13_ENST00000371882.1_Silent_p.L392L|KLHL13_ENST00000545703.1_Silent_p.L401L|KLHL13_ENST00000371878.1_Silent_p.L392L|KLHL13_ENST00000541812.1_Silent_p.L427L|KLHL13_ENST00000262820.3_Silent_p.L443L|KLHL13_ENST00000540167.1_Silent_p.L427L|KLHL13_ENST00000469946.1_Silent_p.L392L Q9P2N7 KLH13_HUMAN kelch-like family member 13 443 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ACTGCATACAGATATCCTTTG 0.388000 7 24 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110819752 110819752 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:110819752C>T ENST00000282356.4 + 11 1408 c.1010C>T c.(1009-1011)tCg>tTg p.S337L CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.S337L NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 337 Calmodulin-binding (Potential). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GTGGCCTCTTCGCGCCTGGGA 0.557000 4 40 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105279178 105279178 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105279178T>A ENST00000327674.4 - 2 1156 c.821A>T c.(820-822)gAg>gTg p.E274V SERPINA7_ENST00000372563.1_Missense_Mutation_p.E274V|SERPINA7_ENST00000487487.1_5'UTR P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 274 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) CATCTGTCCCTCCTTGGGAAG 0.458000 38 99 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 534807 534807 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:534807G>A ENST00000437048.2 - 8 816 c.670C>T c.(670-672)Cct>Tct p.P224S VPS53_ENST00000291074.5_Missense_Mutation_p.P195S|VPS53_ENST00000446250.2_Missense_Mutation_p.P26S|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.P224S|VPS53_ENST00000576149.1_5'UTR NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 224 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) CCCTGGGAAGGAAACGCTTCT 0.498000 10 51 0 0 1 0 0 TMEM31 203562 broad.mit.edu 37 X 102967189 102967189 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:102967189G>A ENST00000319560.6 + 2 194 c.3G>A c.(1-3)atG>atA p.M1I GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 1 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 TAGAAGAAATGAGGTTAACAG 0.418000 8 15 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76370810 76370810 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76370810G>A ENST00000407242.2 - 3 2069 c.1827C>T c.(1825-1827)tcC>tcT p.S609S LRRC32_ENST00000260061.5_Silent_p.S609S|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.S609S|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 609 LRRCT. integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CGTGGCTCAGGGACACCTCCT 0.617000 4 73 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38951679 38951679 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:38951679C>T ENST00000302328.3 - 8 1177 c.979G>A c.(979-981)Gaa>Aaa p.E327K SCN11A_ENST00000444237.2_Missense_Mutation_p.E327K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E327K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E327K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 327 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCTTACATTCATATTGTATG 0.383000 4 49 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161143531 161143531 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161143531G>A ENST00000308192.9 + 10 1251 c.1188G>A c.(1186-1188)aaG>aaA p.K396K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 396 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCACAGGAAAGAAGTGTCAGT 0.507000 18 81 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86180999 86180999 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:86180999G>A ENST00000257770.3 + 3 656 c.607G>A c.(607-609)Gaa>Aaa p.E203K NT5E_ENST00000369646.3_Missense_Mutation_p.E203K|NT5E_ENST00000369651.3_Missense_Mutation_p.E203K NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 203 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) ATTACAACCTGAAGTAGATAA 0.299000 4 29 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101578623 101578623 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:101578623T>A ENST00000370449.4 + 18 2461 c.2348T>A c.(2347-2349)cTt>cAt p.L783H NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 783 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GACATCTATCTTCTAGATGAC 0.428000 14 54 0 0 1 0 0 CDA 978 broad.mit.edu 37 1 20915757 20915757 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:20915757G>T ENST00000375071.3 + 1 317 c.135G>T c.(133-135)caG>caT p.Q45H CDA_ENST00000461985.1_3'UTR NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase 45 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) TGCTCACCCAGGAGGGGAGAA 0.612000 6 49 0.000157383 0.000158346 1 1 0 TRAV3 28690 broad.mit.edu 37 14 22192065 22192065 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22192065G>A ENST00000390425.2 + 0 106 CTGGGGTGGGGCCATATCTCC 0.622000 15 57 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127785858 127785858 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:127785858C>T ENST00000243253.3 + 9 1023 c.839C>T c.(838-840)cCc>cTc p.P280L SEC61A1_ENST00000464451.1_Missense_Mutation_p.P286L|SEC61A1_ENST00000424880.2_Missense_Mutation_p.P160L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 280 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 AACACCTATCCCATCAAGCTC 0.537000 7 85 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148966 103148966 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103148966G>A ENST00000295269.4 + 12 2673 c.2216G>A c.(2215-2217)gGa>gAa p.G739E NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 739 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TACTTGGGTGGAGTAAGGAGG 0.493000 4 30 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717485 13717485 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:13717485G>A ENST00000279593.3 - 13 2896 c.2687C>T c.(2686-2688)tCc>tTc p.S896F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 896 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) CAGGATGTTGGAGTGTGTGTT 0.577000 34 140 0 0 1 0 0 ELOVL2 54898 broad.mit.edu 37 6 10995349 10995349 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:10995349G>A ENST00000354666.3 - 5 479 c.396C>T c.(394-396)ttC>ttT p.F132F NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 132 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) GCAAAACGAAGAAAATTGTGT 0.378000 5 125 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20964372 20964372 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:20964372C>T ENST00000321556.4 + 2 519 c.425C>T c.(424-426)cCg>cTg p.P142L NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 142 cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|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;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGGCCTGACCCGTTGGACACG 0.547000 11 81 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048936 143048936 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143048936G>A ENST00000343257.2 + 23 2932 c.2845G>A c.(2845-2847)Ggc>Agc p.G949S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 949 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CAAGGTAGAGGGCGAGTTGGA 0.652000 6 77 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166325 44166325 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:44166325C>T ENST00000417257.1 - 14 1647 c.1471G>A c.(1471-1473)Gag>Aag p.E491K FRMD5_ENST00000402883.1_Missense_Mutation_p.E491K|FRMD5_ENST00000484674.1_Missense_Mutation_p.E397K NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 491 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding p.E491K(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) ACCTGTTCCTCCTCGGGCCCG 0.567000 9 70 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869659 4869659 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4869659G>A ENST00000322101.2 - 1 855 c.780C>T c.(778-780)atC>atT p.I260I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATCATAGGGATATAGAAGA 0.502000 14 73 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142476601 142476601 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:142476601C>T ENST00000430863.1 - 0 2465 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GGGTCTTTTCCTTGGCTTGCG 0.647000 7 28 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128341887 128341887 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:128341887G>A ENST00000389524.4 + 13 1587 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K MYO7B_ENST00000428314.1_Missense_Mutation_p.E512K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E512K Q6PIF6 MYO7B_HUMAN myosin VIIB 512 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCTCCTGGACGAAGAAAGCCG 0.602000 3 33 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142565411 142565411 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142565411C>T ENST00000392957.2 + 12 2583 c.1796C>T c.(1795-1797)tCc>tTc p.S599F EPHB6_ENST00000442129.1_Missense_Mutation_p.S599F|EPHB6_ENST00000411471.2_Missense_Mutation_p.S322F NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 599 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GTGATCGGCTCCATCCTGGGG 0.652000 5 21 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69420299 69420299 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:69420299G>A ENST00000333026.3 + 4 562 c.462G>A c.(460-462)gtG>gtA p.V154V NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 154 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 GAGAATATGTGATGTCAATGG 0.413000 4 35 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22985965 22985965 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:22985965C>T ENST00000509305.1 + 2 356 c.10C>T c.(10-12)Cca>Tca p.P4S C1QB_ENST00000314933.6_Missense_Mutation_p.P6S P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 6 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GATGAAGATCCCATGGGGCAG 0.562000 4 73 0 0 1 0 0 CD3EAP 10849 broad.mit.edu 37 19 45912178 45912178 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:45912178C>T ENST00000309424.3 + 3 1440 c.952C>T c.(952-954)Ctg>Ttg p.L318L CD3EAP_ENST00000589804.1_Silent_p.L320L|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 318 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) GGTGGAGCCACTGGAGGAAGC 0.572000 18 103 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29275210 29275210 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29275210C>T ENST00000377160.2 + 1 808 c.744C>T c.(742-744)ttC>ttT p.F248F NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TAGCCACCTTCTTTCTTTCAG 0.488000 6 177 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354552 45354552 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:45354552C>T ENST00000359271.2 + 2 1127 c.877C>T c.(877-879)Cgt>Tgt p.R293C NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 293 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) GCTGGTGGACCGTGCAGGCCG 0.657000 21 115 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131487334 131487334 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:131487334C>T ENST00000376682.4 + 1 291 c.36C>T c.(34-36)tcC>tcT p.S12S GPR133_ENST00000535015.1_Intron|GPR133_ENST00000261654.5_Intron Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGTCCCCATCCCAGAGTGGAC 0.637000 4 24 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444027 20444027 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20444027C>T ENST00000305051.5 + 1 425 c.350C>T c.(349-351)tCt>tTt p.S117F NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 117 S -> A (in dbSNP:rs3861513). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGACTATTTCTTTTGATGCC 0.428000 22 119 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43924792 43924792 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:43924792C>T ENST00000262726.7 - 32 4700 c.4447G>A c.(4447-4449)Gat>Aat p.D1483N EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.D1331N|EFCAB6-AS1_ENST00000431327.2_RNA NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1483 EF-hand 17.|Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) AGCGTCTTATCGTAATACTCC 0.522000 11 78 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809256 31809256 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:31809256G>A ENST00000446923.2 + 7 1336 c.945G>A c.(943-945)aaG>aaA p.K315K ZEB1_ENST00000361642.5_Silent_p.K332K|ZEB1_ENST00000320985.10_Silent_p.K331K|ZEB1_ENST00000560721.2_Silent_p.K311K|ZEB1_ENST00000542815.3_Silent_p.K264K|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 331 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) TACGGCAAAAGATAGAGAATA 0.433000 5 46 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425885 75425885 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:75425885G>A ENST00000305249.4 - 1 941 c.176C>T c.(175-177)gCc>gTc p.A59V TACR1_ENST00000409848.3_Missense_Mutation_p.A59V NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 59 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) TCTTTTGTGGGCTAAGATGAT 0.517000 4 23 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612073 189612073 + Missense_Mutation SNP G G A rs142762485 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189612073G>A ENST00000264731.3 + 14 1914 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K TP63_ENST00000440651.2_Missense_Mutation_p.E605K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000456148.1_Missense_Mutation_p.E511K|TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Missense_Mutation_p.E524K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 609 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E609K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCAGCTCCACGAATTCTCCTC 0.567000 HNSCC(45;0.13) 12 85 0 0 1 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84567050 84567050 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:84567050C>T ENST00000369689.1 + 4 480 c.329C>T c.(328-330)tCa>tTa p.S110L RIPPLY2_ENST00000369687.1_Missense_Mutation_p.S52L NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 110 Ripply homology domain. somite rostral/caudal axis specification nucleus large_intestine(2)|lung(4)|urinary_tract(1) 7 GCCACAATTTCATTTTATGAA 0.323000 6 48 0 0 1 0 0 MMP8 4317 broad.mit.edu 37 11 102592434 102592434 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102592434G>A ENST00000236826.3 - 3 505 c.407C>T c.(406-408)gCc>gTc p.A136V NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) 136 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GAGTTCAAAGGCATCCTTGAT 0.418000 7 28 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579085 44579085 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:44579085C>T ENST00000289547.4 - 2 966 c.911G>A c.(910-912)gGa>gAa p.G304E NPC1L1_ENST00000546276.1_Missense_Mutation_p.G304E|NPC1L1_ENST00000423141.1_Missense_Mutation_p.G304E|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G304E NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 304 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CACACGGAATCCCACAAGCAG 0.602000 5 109 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292576 6292576 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6292576G>A ENST00000525462.1 + 4 1357 c.1354G>A c.(1354-1356)Gcc>Acc p.A452T CCKBR_ENST00000334619.2_Missense_Mutation_p.A383T|CCKBR_ENST00000532715.1_Missense_Mutation_p.A299T P32239 GASR_HUMAN cholecystokinin B receptor 383 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CTACGCCTCGGCCTGTGTCAA 0.627000 9 120 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597016 179597016 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179597016G>A ENST00000589042.1 - 57 16904 c.16680C>T c.(16678-16680)gcC>gcT p.A5560A TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.A5243A|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A4316A|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5243 Ig-like 36. 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) CTAGCTGGGTGGCATCTCCCT 0.408000 11 99 0 0 1 0 0 NFX1 4799 broad.mit.edu 37 9 33342786 33342786 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:33342786C>T ENST00000379540.3 + 13 2220 c.2158C>T c.(2158-2160)Cgt>Tgt p.R720C NFX1_ENST00000379521.4_Missense_Mutation_p.R720C|NFX1_ENST00000318524.6_Missense_Mutation_p.R720C NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 720 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GAGGAAACTCCGTTGTGGCCT 0.393000 8 15 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104927753 104927753 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:104927753C>T ENST00000507740.1 + 5 1503 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W RIMS2_ENST00000436393.2_Missense_Mutation_p.R393W|RIMS2_ENST00000406091.3_Missense_Mutation_p.R615W|RIMS2_ENST00000262231.10_Missense_Mutation_p.R470W NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 693 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGAATCAGGTCGGCTTTGTGC 0.333000 HNSCC(12;0.0054) 10 35 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563774 55563774 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55563774C>G ENST00000335605.1 + 1 743 c.743C>G c.(742-744)aCt>aGt p.T248S NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TCCCACCTGACTTCTATCACC 0.453000 7 48 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107399033 107399033 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107399033C>T ENST00000440859.2 + 6 1353 c.886C>T c.(886-888)Cct>Tct p.P296S CBLL1_ENST00000222597.2_Missense_Mutation_p.P295S NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 296 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 AATAACCGTCCCTATTCAGGA 0.488000 10 65 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457547 45457547 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:45457547G>A ENST00000548424.1 + 0 448 CAGGGGCAAGGAAGGCAGGCG 0.498000 7 20 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996298 140996298 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140996298C>T ENST00000285879.4 + 4 3394 c.3108C>T c.(3106-3108)gcC>gcT p.A1036A MAGEC1_ENST00000406005.2_Silent_p.A103A NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1036 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGCACTTTGCCTTTGGGGAGC 0.537000 HNSCC(15;0.026) 10 80 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250854 140250854 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140250854G>A ENST00000398640.2 + 1 2166 c.2166G>A c.(2164-2166)tgG>tgA p.W722* PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGTGGTGGTCGGCAACGC 0.667000 12 62 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57966424 57966424 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:57966424G>A ENST00000455537.2 + 15 1905 c.1631G>A c.(1630-1632)cGa>cAa p.R544Q KIF5A_ENST00000286452.5_Missense_Mutation_p.R455Q NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 544 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 GGACACCAGCGAAAACGAATT 0.567000 7 69 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459985 107459985 + Missense_Mutation SNP A A C rs141100958 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:107459985A>C ENST00000409382.3 - 2 1059 c.449T>G c.(448-450)tTc>tGc p.F150C ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F150C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F150C NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 150 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGGGGAAGGGAATCCCAATGT 0.612000 32 189 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133948072 133948072 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:133948072C>T ENST00000361069.4 + 19 3400 c.3267C>T c.(3265-3267)gcC>gcT p.A1089A LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1089 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTGTCAAGGCCGCCCGGGAGC 0.652000 4 17 0 0 1 0 0 USP16 10600 broad.mit.edu 37 21 30409701 30409701 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:30409701C>T ENST00000334352.4 + 7 784 c.553C>T c.(553-555)Cct>Tct p.P185S USP16_ENST00000399976.2_Missense_Mutation_p.P185S|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.P184S NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 185 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 TAAAGAGAATCCTCCCATGAA 0.328000 5 43 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192778 34192778 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:34192778G>A ENST00000297161.2 + 16 2325 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K BMPER_ENST00000426693.1_Missense_Mutation_p.E651K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 651 TIL. 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 CAACTGGAATGAAATTGGTCC 0.517000 12 118 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189272 11189272 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:11189272C>T ENST00000382435.4 + 1 876 c.657C>T c.(655-657)ctC>ctT p.L219L NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 219 integral to membrane CCTCCTGCCTCCCAACAGTGG 0.617000 8 102 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117243663 117243663 + Missense_Mutation SNP C C T rs121909034 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:117243663C>T ENST00000003084.6 + 17 2867 c.2735C>T c.(2734-2736)tCg>tTg p.S912L CFTR_ENST00000454343.1_Missense_Mutation_p.S851L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 912 ABC transmembrane type-1 2. S -> L. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AGCACCAGTTCGTATTATGTG 0.418000 Cystic Fibrosis 7 71 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220107569 220107569 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220107569G>A ENST00000295759.7 - 4 624 c.311C>T c.(310-312)gCc>gTc p.A104V GLB1L_ENST00000392089.2_Missense_Mutation_p.A104V|GLB1L_ENST00000409640.1_Missense_Mutation_p.A104V|GLB1L_ENST00000356283.3_Missense_Mutation_p.A104V Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 104 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATTCAGAAAGGCAATGAGGTC 0.507000 6 89 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78794543 78794543 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:78794543C>T ENST00000545128.1 + 15 2470 c.1932C>T c.(1930-1932)ggC>ggT p.G644G PCSK5_ENST00000376752.4_Silent_p.G644G NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 644 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTGAGGTTGGCTGTGACGGGC 0.463000 5 47 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391252 139391252 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:139391252C>T ENST00000277541.6 - 34 7014 c.6939G>A c.(6937-6939)cgG>cgA p.R2313R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2313 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGCTCTGCAGCCGGGACAGCC 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 53 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82436122 82436122 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82436122G>A ENST00000370728.1 + 18 3491 c.2846G>A c.(2845-2847)aGg>aAg p.R949K LPHN2_ENST00000370727.1_Missense_Mutation_p.R949K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.R936K|LPHN2_ENST00000271029.4_Missense_Mutation_p.R949K|LPHN2_ENST00000394879.1_Missense_Mutation_p.R936K|LPHN2_ENST00000370730.1_Missense_Mutation_p.R949K|LPHN2_ENST00000319517.6_Missense_Mutation_p.R936K|LPHN2_ENST00000370717.2_Missense_Mutation_p.R949K|LPHN2_ENST00000370725.1_Missense_Mutation_p.R949K|LPHN2_ENST00000335786.5_Missense_Mutation_p.R949K|LPHN2_ENST00000359929.3_Missense_Mutation_p.R936K|LPHN2_ENST00000370721.1_Missense_Mutation_p.R874K|LPHN2_ENST00000370723.1_Missense_Mutation_p.R936K|LPHN2_ENST00000370715.1_Missense_Mutation_p.R936K O95490 LPHN2_HUMAN latrophilin 2 949 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) GAATATTCAAGGAAAAAATAT 0.378000 15 67 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923615 24923615 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:24923615C>T ENST00000329468.2 + 1 3075 c.2601C>T c.(2599-2601)gcC>gcT p.A867A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACAGCATTGCCTCAGCCCAAG 0.488000 10 74 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72107824 72107824 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:72107824G>A ENST00000540303.2 + 2 71 c.39G>A c.(37-39)tgG>tgA p.W13* HPR_ENST00000228226.8_Nonsense_Mutation_p.W50*|HPR_ENST00000356967.5_Nonsense_Mutation_p.W13*|HPR_ENST00000561690.1_Nonsense_Mutation_p.W13* NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 13 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) TCCTGCTCTGGGGACGACAGC 0.522000 11 115 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209309566 209309566 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:209309566C>T ENST00000272847.2 + 7 1020 c.807C>T c.(805-807)ttC>ttT p.F269F PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 269 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTGTGGCTTTCTTTTCGGACA 0.403000 26 118 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201035008 201035008 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:201035008G>A ENST00000362061.3 - 22 3037 c.2811C>T c.(2809-2811)ctC>ctT p.L937L CACNA1S_ENST00000367338.3_Silent_p.L937L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 937 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGAACTGTAGGAGGGTAGTGA 0.647000 5 27 0 0 1 0 0 INPP1 3628 broad.mit.edu 37 2 191231568 191231568 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:191231568C>T ENST00000392329.2 + 5 1113 c.413C>T c.(412-414)tCc>tTc p.S138F INPP1_ENST00000322522.4_Missense_Mutation_p.S138F|INPP1_ENST00000541441.1_Missense_Mutation_p.S138F NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 138 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) ACTCTGGATTCCACAGAGATC 0.418000 9 80 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46307470 46307470 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:46307470C>T ENST00000359930.4 - 8 1994 c.1143G>A c.(1141-1143)atG>atA p.M381I SULF2_ENST00000361612.4_Missense_Mutation_p.M381I|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.M381I|SULF2_ENST00000484875.1_Missense_Mutation_p.M381I NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 381 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 ATTTCCCGTCCATATCCGCAG 0.627000 23 171 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2542621 2542621 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2542621G>T ENST00000358864.1 + 4 534 c.519G>T c.(517-519)aaG>aaT p.K173N NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 173 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TGCGGAGCAAGCCCTGGCCCA 0.607000 5 53 0.000602214 0.000605005 1 1 0 PPFIA2 8499 broad.mit.edu 37 12 81657112 81657112 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81657112C>T ENST00000550584.2 - 30 3908 c.3613G>A c.(3613-3615)Gaa>Aaa p.E1205K PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1184K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1190K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E391K|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E741K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E1205K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1193K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E1104K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E1100K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E1052K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1199K NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1104 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CCATGTACTTCACGAGGAGGA 0.438000 3 25 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51512899 51512899 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:51512899G>A ENST00000371117.3 - 63 11603 c.11328C>T c.(11326-11328)tcC>tcT p.S3776S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3776 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 p.S3776S(1) 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) GAGGTCCCAGGGACTCTACTC 0.413000 4 68 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55725924 55725924 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:55725924C>T ENST00000379906.2 + 5 1133 c.878C>T c.(877-879)gCc>gTc p.A293V SLC6A2_ENST00000414754.3_Missense_Mutation_p.A293V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A293V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A293V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A293V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A188V|SLC6A2_ENST00000566163.1_Intron NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 293 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GGCATCAATGCCTACCTGCAC 0.597000 6 58 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14706183 14706183 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:14706183C>T ENST00000240617.5 - 2 931 c.279G>A c.(277-279)ctG>ctA p.L93L NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 93 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TCTCATTGCTCAGGGTTTGAG 0.522000 4 21 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189612204 189612204 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189612204C>T ENST00000264731.3 + 14 2045 c.1956C>T c.(1954-1956)ttC>ttT p.F652F TP63_ENST00000440651.2_Silent_p.F648F|TP63_ENST00000354600.5_Silent_p.F558F|TP63_ENST00000456148.1_Silent_p.F554F|TP63_ENST00000449992.1_Silent_p.F473F|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Silent_p.F567F NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 652 Transactivation inhibition. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCATCTCTTTCCCACCCCGAG 0.562000 HNSCC(45;0.13) 6 100 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196395070 196395070 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196395070G>A ENST00000367433.5 - 11 1134 c.1033C>T c.(1033-1035)Cga>Tga p.R345* KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R345*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R345*|KCNT2_ENST00000451324.2_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 345 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AGTACCCTTCGAACCTGTACA 0.383000 16 61 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23346017 23346017 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:23346017C>T ENST00000338121.5 + 2 1074 c.997C>T c.(997-999)Ctg>Ttg p.L333L GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Silent_p.L333L Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 333 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GAAGAGCTTCCTGAAGCACAG 0.582000 24 104 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64665324 64665324 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:64665324G>A ENST00000421419.2 - 35 5101 c.4987C>T c.(4987-4989)Ccc>Tcc p.P1663S ATG2A_ENST00000377264.3_Missense_Mutation_p.P1661S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1661 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AAGTAGATGGGCTGCTGGTCA 0.682000 8 59 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99526934 99526934 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99526934C>T ENST00000312891.2 - 1 309 c.310G>A c.(310-312)Gaa>Aaa p.E104K NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 104 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCTGATAATTCCCAGTGCCAG 0.582000 19 242 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161161178 161161178 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:161161178C>T ENST00000367996.4 - 9 2692 c.2264G>A c.(2263-2265)gGg>gAg p.G755E NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 755 Spacer. 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) GCTGACTGCCCCAGGCAGTAC 0.607000 5 55 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436522 56436522 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:56436522C>T ENST00000327381.5 + 3 1789 c.1689C>T c.(1687-1689)ttC>ttT p.F563F NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 563 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) ATCAGAAATTCGCAGAGCGGG 0.567000 6 45 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585211 82585211 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82585211C>T ENST00000423517.2 - 5 5395 c.5058G>A c.(5056-5058)caG>caA p.Q1686Q PCLO_ENST00000333891.8_Silent_p.Q1686Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1617 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTTTTTTTCTGTGATGACT 0.423000 5 31 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86210383 86210383 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:86210383T>C ENST00000370571.2 - 57 5004 c.4638A>G c.(4636-4638)aaA>aaG p.K1546K COL24A1_ENST00000436319.1_Silent_p.K1525K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1546 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TAAGTAAATCTTTGCAGATTC 0.368000 13 57 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50765707 50765707 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:50765707C>T ENST00000404971.1 - 11 3286 c.1947G>A c.(1945-1947)ctG>ctA p.L649L NRXN1_ENST00000405472.3_Silent_p.L601L|NRXN1_ENST00000401669.2_Silent_p.L609L|NRXN1_ENST00000406859.3_Silent_p.L609L|NRXN1_ENST00000406316.2_Silent_p.L609L|NRXN1_ENST00000402717.3_Silent_p.L601L|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 609 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACTCATCATCCAGGTCCAGAA 0.517000 7 59 0 0 1 0 0 DIRAS3 9077 broad.mit.edu 37 1 68512954 68512954 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:68512954C>T ENST00000370981.1 - 4 663 c.27G>A c.(25-27)aaG>aaA p.K9K GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.K9K|GNG12-AS1_ENST00000420587.1_RNA O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 9 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCTTCTGTTCCTTGGAGCCAA 0.582000 8 65 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543237 182543237 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:182543237C>T ENST00000295108.3 - 2 808 c.351G>A c.(349-351)ctG>ctA p.L117L NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 117 Helix-loop-helix motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCGCCGCGTTCAGTCCGTGCA 0.547000 5 40 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 40062678 40062678 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40062678G>A ENST00000350221.3 - 3 469 c.260C>T c.(259-261)tCa>tTa p.S87L NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 87 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) ATCTTCATCTGATCCCTCTTC 0.378000 6 92 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476122 17476122 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:17476122T>G ENST00000252590.4 - 3 1213 c.1152A>C c.(1150-1152)tcA>tcC p.S384S NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 384 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGTCCAGGGCTGAGTTTCTGA 0.602000 15 89 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629998 47629998 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:47629998C>T ENST00000546455.1 + 4 1883 c.1152C>T c.(1150-1152)ttC>ttT p.F384F PCED1B_ENST00000432328.1_Silent_p.F384F PC-esterase domain containing 1B TGCCCTTCTTCCCCACACCCC 0.562000 25 80 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116692204 116692204 + Silent SNP G G A rs145525856 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:116692204G>A ENST00000357780.3 - 3 684 c.570C>T c.(568-570)atC>atT p.I190I NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CGTTCTGGTCGATCTTGGCCT 0.637000 13 164 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41447046 41447046 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:41447046G>A ENST00000400454.1 - 27 5283 c.4806C>T c.(4804-4806)atC>atT p.I1602I NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1602 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 p.I1602I(1) 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) CCCCCACCAGGATACAGGAGA 0.567000 5 44 0 0 1 0 0 KIRREL3 84623 broad.mit.edu 37 11 126432760 126432760 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:126432760C>T ENST00000525144.2 - 2 352 c.103G>A c.(103-105)Gcc>Acc p.A35T KIRREL3_ENST00000529097.2_Missense_Mutation_p.A35T|KIRREL3_ENST00000525704.2_Missense_Mutation_p.A35T|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 35 hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TTGTCCTTGGCCATGTAGCCC 0.547000 4 74 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138447771 138447771 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138447771C>T ENST00000310018.2 - 6 574 c.e6-1 ATP6V0A4_ENST00000393054.1_Splice_Site|ATP6V0A4_ENST00000353492.4_Splice_Site|ATP6V0A4_ENST00000483139.1_Splice_Site NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CTAGAACAGTCTATGCAGGAA 0.408000 12 61 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12874530 12874530 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:12874530G>A ENST00000264827.5 - 20 2054 c.1884C>T c.(1882-1884)tcC>tcT p.S628S HOOK2_ENST00000397668.3_Silent_p.S630S NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 630 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 GTGTCCTCAGGGAATGGAGTT 0.602000 9 58 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87173569 87173569 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87173569G>A ENST00000265724.3 - 18 2504 c.2087C>T c.(2086-2088)tCc>tTc p.S696F ABCB1_ENST00000543898.1_Missense_Mutation_p.S632F NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 696 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) CCTCCAAAAGGAAACTGGAGG 0.328000 4 37 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688409 107688409 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107688409C>T ENST00000388781.3 - 28 4353 c.4270G>A c.(4270-4272)Gaa>Aaa p.E1424K LAMB4_ENST00000205386.4_Missense_Mutation_p.E1424K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1424K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1424 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GATTTTGCTTCCTGGGCTTTT 0.478000 4 82 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113485720 113485720 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:113485720C>T ENST00000487903.1 + 13 1341 c.1253C>T c.(1252-1254)aCc>aTc p.T418I ATP11A_ENST00000283558.8_Missense_Mutation_p.T418I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T418I|ATP11A_ENST00000375645.3_Missense_Mutation_p.T418I P98196 AT11A_HUMAN ATPase, class VI, type 11A 418 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AAGACCGGCACCCTCACGGAA 0.607000 8 41 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65486411 65486411 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:65486411C>T ENST00000519389.1 + 21 3715 c.3536C>T c.(3535-3537)gCt>gTt p.A1179V HEPH_ENST00000441993.2_Missense_Mutation_p.A1127V|HEPH_ENST00000343002.2_Missense_Mutation_p.A1125V|HEPH_ENST00000419594.1_Missense_Mutation_p.A936V|HEPH_ENST00000374727.3_Missense_Mutation_p.A1128V|HEPH_ENST00000336279.5_Missense_Mutation_p.A858V Q9BQS7 HEPH_HUMAN hephaestin 1125 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GTTGTTCTGGCTCTTGGTGGA 0.483000 8 31 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 907761 907761 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:907761G>A ENST00000379409.2 + 9 1145 c.1115G>A c.(1114-1116)gGg>gAg p.G372E PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G320E|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.G332E Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 372 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CACAGGGAGGGGGCCCCGCCG 0.672000 4 14 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60503777 60503777 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:60503777C>T ENST00000371201.3 - 6 857 c.750G>A c.(748-750)gtG>gtA p.V250V C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 250 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTTCATAATTCACCTGAAAAT 0.333000 6 21 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164271659 164271659 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:164271659C>T ENST00000515560.1 + 4 1756 c.234C>T c.(232-234)ttC>ttT p.F78F NPY5R_ENST00000506953.1_Silent_p.F78F|NPY5R_ENST00000338566.3_Silent_p.F78F Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 78 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) CGGTAAACTTCCTCATAGGCA 0.413000 18 166 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138667284 138667284 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:138667284A>T ENST00000520602.1 - 27 3151 c.2866T>A c.(2866-2868)Tca>Aca p.S956T MCF2_ENST00000414978.1_Missense_Mutation_p.S956T|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370576.4_Missense_Mutation_p.S896T|MCF2_ENST00000370578.4_Missense_Mutation_p.S1041T|MCF2_ENST00000338585.6_Missense_Mutation_p.S912T|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000519895.1_Missense_Mutation_p.S972T P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 896 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TAGTTGCTTGACCATTCCGCA 0.358000 34 127 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150389 34150389 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:34150389C>T ENST00000346193.3 - 1 58 c.7G>A c.(7-9)Gac>Aac p.D3N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 3 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGCCTCTGGTCCCCCATGGTG 0.642000 11 25 0 0 1 0 0 CD96 10225 broad.mit.edu 37 3 111286466 111286466 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:111286466C>T ENST00000352690.4 + 3 755 c.515C>T c.(514-516)tCa>tTa p.S172L CD96_ENST00000283285.5_Missense_Mutation_p.S172L|CD96_ENST00000438817.2_Missense_Mutation_p.S172L NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 172 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 TCAAAAATTTCATCTGAGTTC 0.368000 Opitz Trigonocephaly syndrome 10 30 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95093536 95093536 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:95093536C>T ENST00000371501.4 - 42 4820 c.4698G>A c.(4696-4698)caG>caA p.Q1566Q MYOF_ENST00000359263.4_Silent_p.Q1566Q|MYOF_ENST00000358334.5_Silent_p.Q1553Q|MYOF_ENST00000371502.4_Silent_p.Q1585Q Q9NZM1 MYOF_HUMAN myoferlin 1566 C2 5. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGTCCTGGGGCTGGAGCTCTA 0.507000 5 34 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11726160 11726160 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:11726160C>T ENST00000262442.3 + 48 9123 c.9055C>T c.(9055-9057)Cac>Tac p.H3019Y DNAH9_ENST00000454412.2_Missense_Mutation_p.H3019Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3019 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCCTTTGTCCACACAAGTGT 0.418000 13 115 0 0 1 0 0 RP1-241P17.4 0 broad.mit.edu 37 X 114953374 114953374 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:114953374C>T ENST00000449327.1 - 1 295 c.176G>A c.(175-177)aGa>aAa p.R59K GAATCGGAATCTGATCTGCCT 0.443000 10 63 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524770 112524770 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:112524770G>A ENST00000369697.1 - 1 648 c.579C>T c.(577-579)atC>atT p.I193I KCND3_ENST00000315987.2_Silent_p.I193I|KCND3_ENST00000302127.4_Silent_p.I193I Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 193 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CCGAGACAGCGATGAAGAAGC 0.657000 9 40 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203194946 203194946 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:203194946C>T ENST00000367229.1 - 3 142 c.108G>A c.(106-108)caG>caA p.Q36Q CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.Q36Q|CHIT1_ENST00000535569.1_Silent_p.Q46Q NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 36 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GAGCCTCCCCCTGTCTGTACT 0.582000 11 58 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4447596 4447596 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4447596G>A ENST00000301281.6 - 6 690 c.566C>T c.(565-567)cCc>cTc p.P189L UBXN6_ENST00000394765.3_Missense_Mutation_p.P136L|CTB-50L17.7_ENST00000588798.1_RNA NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 189 PUB. microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 CTCCTCCTCGGGGTGCAGGTG 0.667000 6 69 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56868648 56868648 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:56868648C>T ENST00000564887.1 + 14 2000 c.1371C>T c.(1369-1371)ttC>ttT p.F457F NUP93_ENST00000542526.1_Silent_p.F457F|NUP93_ENST00000569842.1_Silent_p.F580F|NUP93_ENST00000308159.5_Silent_p.F580F NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 580 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TTCCACAGTTCGATATGATTC 0.338000 4 27 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863845 55863845 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55863845G>A ENST00000327335.4 - 1 77 c.78C>T c.(76-78)ttC>ttT p.F26F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GTAGAAATAAGAAAATTACAA 0.358000 3 35 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72806823 72806823 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:72806823C>T ENST00000264839.7 + 3 417 c.417C>T c.(415-417)ttC>ttT p.F139F RIMS1_ENST00000518273.1_Silent_p.F139F|RIMS1_ENST00000521978.1_Silent_p.F139F|RIMS1_ENST00000517960.1_Silent_p.F139F|RIMS1_ENST00000348717.5_Silent_p.F139F|RIMS1_ENST00000522291.1_Silent_p.F139F|RIMS1_ENST00000491071.2_Silent_p.F139F|RIMS1_ENST00000520567.1_Silent_p.F139F Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 139 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCACTAAGTTCTGTGCGCGCT 0.493000 4 30 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589586 140589586 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140589586G>A ENST00000239450.2 + 1 1296 c.1107G>A c.(1105-1107)agG>agA p.R369R PCDHB12_ENST00000541609.1_Silent_p.R32R NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 369 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTTTTCAGGATACGAGACA 0.438000 8 38 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112028387 112028387 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:112028387C>T ENST00000369716.4 - 5 1081 c.948G>A c.(946-948)agG>agA p.R316R ADORA3_ENST00000369717.4_Silent_p.R235R NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GACTTCTCCTCCTTTTGGTCA 0.428000 4 83 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440560 124440560 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124440560C>T ENST00000284287.3 + 1 668 c.596C>T c.(595-597)cCt>cTt p.P199L NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GACATCCTCCCTCTCATGAAG 0.458000 20 78 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43919782 43919782 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:43919782G>A ENST00000282406.4 + 4 426 c.316G>A c.(316-318)Gaa>Aaa p.E106K NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 106 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCAAAACTTGGAATTGCAACT 0.348000 5 65 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33467231 33467231 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:33467231G>A ENST00000379471.2 - 14 1842 c.1755C>T c.(1753-1755)tcC>tcT p.S585S NOL6_ENST00000455041.2_Silent_p.S533S|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 585 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GCTCCGAGCGGGATCCCCAGA 0.607000 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 21 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907328 153907328 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:153907328C>T ENST00000361217.4 - 18 3099 c.2681G>A c.(2680-2682)cGg>cAg p.R894Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 894 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ctgctgttgcCGTTCTCTCAA 0.642000 7 82 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193028503 193028503 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:193028503G>A ENST00000342358.4 - 21 2566 c.2449C>T c.(2449-2451)Ctg>Ttg p.L817L ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 817 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CCATTCACCAGAATCTAAAAA 0.333000 3 44 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408988 130408988 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130408988C>T ENST00000370904.1 - 23 4340 c.3430G>A c.(3430-3432)Gag>Aag p.E1144K IGSF1_ENST00000361420.3_Missense_Mutation_p.E1153K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1158K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E1144K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1153 Ig-like C2-type 11. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACCCAGATCTCCAGGGAGTCA 0.453000 28 148 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57815687 57815687 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:57815687G>A ENST00000281282.5 + 11 2794 c.2715_splice c.e11-1 p.G906_splice NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 906 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCATTTGCAGGGAAATCTGAG 0.502000 6 24 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80623136 80623136 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:80623136G>A ENST00000458043.2 + 7 568 c.562G>A c.(562-564)Gaa>Aaa p.E188K OTOGL_ENST00000547103.1_Missense_Mutation_p.E188K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTATGGTCATGAAATAAAAAA 0.363000 4 41 0 0 1 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394320 39394320 + Missense_Mutation SNP C C T rs35424651 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39394320C>T ENST00000254072.6 + 1 24 c.17C>T c.(16-18)tCc>tTc p.S6F NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 6 keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CACTGTTGTTCCCCTTGCTGT 0.572000 5 84 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15198722 15198722 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15198722C>T ENST00000209540.2 + 1 932 c.846C>T c.(844-846)atC>atT p.I282I NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 GGGTGTTCATCCCCATGCTCA 0.567000 5 35 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754826 49754826 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:49754826G>A ENST00000304801.3 - 1 227 c.75C>T c.(73-75)ttC>ttT p.F25F NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 25 Substrate binding (By similarity). glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TGGGAACATTGAAGTCTACTC 0.428000 12 90 0 0 1 0 0 MMD 23531 broad.mit.edu 37 17 53481141 53481141 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:53481141G>A ENST00000262065.3 - 5 729 c.433C>T c.(433-435)Ctc>Ttc p.L145F NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 145 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 TCATGGTAGAGAAATACATAA 0.328000 4 36 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74597754 74597754 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:74597754C>T ENST00000361874.3 - 10 1359 c.1042G>A c.(1042-1044)Gag>Aag p.E348K DCTN1_ENST00000409438.1_Missense_Mutation_p.E214K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E341K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E311K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E331K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E214K|DCTN1_ENST00000409567.3_Missense_Mutation_p.E328K NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 348 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TTACCCTTCTCTTCAATCTCA 0.567000 13 102 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101832635 101832635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:101832635C>T ENST00000263468.8 + 6 1139 c.869C>T c.(868-870)tCa>tTa p.S290L KIAA1377_ENST00000537689.1_Missense_Mutation_p.S91L NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 290 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AATATGCAATCAACTAATCTC 0.348000 5 48 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69320567 69320567 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:69320567G>C ENST00000260364.5 + 4 434 c.133G>C c.(133-135)Gag>Cag p.E45Q NOX5_ENST00000530406.2_Missense_Mutation_p.E63Q|NOX5_ENST00000448182.3_Missense_Mutation_p.E45Q|NOX5_ENST00000455873.3_Missense_Mutation_p.E56Q|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000388866.3_Missense_Mutation_p.E63Q Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 63 EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CTTCTTTGCAGAGCGATTCTT 0.572000 5 176 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148044410 148044410 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:148044410C>T ENST00000370460.2 + 13 3335 c.2856C>T c.(2854-2856)acC>acT p.T952T AFF2_ENST00000286437.5_Silent_p.T593T|AFF2_ENST00000342251.3_Silent_p.T919T|AFF2_ENST00000370457.5_Silent_p.T919T NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 952 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCACATCTACCAAACCTAAGA 0.423000 7 34 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176314546 176314546 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:176314546T>C ENST00000292432.5 - 11 1597 c.1506A>G c.(1504-1506)gcA>gcG p.A502A NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 502 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGCATCTGTGCCTGAACCG 0.677000 11 39 0 0 1 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411213 32411213 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32411213G>A ENST00000395388.2 + 3 689 c.580G>A c.(580-582)Ggc>Agc p.G194S HLA-DRA_ENST00000374982.5_Missense_Mutation_p.G169S NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 194 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 GGAGCACTGGGGCTTGGATGA 0.517000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 11 78 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733789 28733789 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:28733789G>A ENST00000550043.1 + 0 194 CCGGGATGCAGGAGGAGAGCC 0.617000 5 29 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151727477 151727477 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:151727477G>A ENST00000535741.1 - 33 5937 c.5464C>T c.(5464-5466)Ctt>Ttt p.L1822F LRBA_ENST00000507224.1_Missense_Mutation_p.L1822F|LRBA_ENST00000357115.3_Missense_Mutation_p.L1822F|LRBA_ENST00000510413.1_Missense_Mutation_p.L1822F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1822 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) GTCCGAGAAAGAAAAGGTGCA 0.368000 8 17 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130159091 130159091 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:130159091A>T ENST00000265379.6 + 35 6403 c.5909A>T c.(5908-5910)aAt>aTt p.N1970I COL6A5_ENST00000432398.2_Missense_Mutation_p.N1970I A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 1970 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CTCATAGACAATTCTCGGAAT 0.398000 7 24 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675107 40675107 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40675107C>T ENST00000416151.2 + 1 186 c.71C>T c.(70-72)tCc>tTc p.S24F KNSTRN_ENST00000448395.2_Missense_Mutation_p.S24F|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S24F NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein p.S24F(1) GAGTGCGATTCCCACCCACTT 0.567000 12 58 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073482 134073482 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:134073482C>T ENST00000264360.4 + 1 3013 c.2187C>T c.(2185-2187)ttC>ttT p.F729F NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 729 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CCTTCATCTTCCTGCTGGCCA 0.592000 4 65 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211093131 211093131 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:211093131C>T ENST00000367007.4 - 7 1401 c.1232G>A c.(1231-1233)gGg>gAg p.G411E KCNH1_ENST00000271751.4_Missense_Mutation_p.G438E NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 438 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTCCCACTTCCCTGAGCCAGA 0.517000 15 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441463 179441463 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179441463C>T ENST00000589042.1 - 325 69732 c.69508G>A c.(69508-69510)Gaa>Aaa p.E23170K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E14105K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E14230K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E21529K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E14297K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20602K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21529 Fibronectin type-III 68. 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) CCTGTAATTTCGCTGCCACCA 0.473000 22 112 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74361174 74361174 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:74361174C>T ENST00000377044.4 - 3 954 c.415G>A c.(415-417)Gat>Aat p.D139N TMEM2_ENST00000377066.5_Missense_Mutation_p.D139N NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 139 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CGGAGCATATCTCCCTCCTTG 0.453000 14 62 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83634661 83634661 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:83634661C>T ENST00000265362.3 - 11 1668 c.1354G>A c.(1354-1356)Gga>Aga p.G452R SEMA3A_ENST00000436949.1_Missense_Mutation_p.G452R NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 452 Sema. axon guidance extracellular region|membrane receptor activity p.G452R(1) breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TTACCTGTTCCGATAAACATA 0.358000 6 77 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158716371 158716371 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:158716371C>T ENST00000407559.3 + 17 2362 c.2204C>T c.(2203-2205)tCt>tTt p.S735F NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 735 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) CTGCATTACTCTGTGACGCTG 0.527000 45 116 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151804202 151804202 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:151804202C>T ENST00000318247.6 - 1 146 c.40_splice c.e1+1 p.R13_splice RORC_ENST00000392697.3_5'UTR NM_005060.3 NP_005051.2 P51449 RORG_HUMAN RAR-related orphan receptor C 13 Modulating (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCTCTTACCCCGTGAGGCTC 0.662000 8 129 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242561 53242561 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53242561G>A ENST00000304620.4 - 1 217 c.154C>T c.(154-156)Cgt>Tgt p.R52C NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 52 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GTACTCCCACGAGAGCCTTCC 0.672000 3 26 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33700218 33700218 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:33700218C>T ENST00000336934.5 - 7 2198 c.2082_splice c.e7+1 p.Q694_splice STARD13_ENST00000399365.3_Splice_Site_p.Q576_splice|STARD13_ENST00000255486.4_Splice_Site_p.Q686_splice NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 694 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) ACAGCCCTACCTGATCGAGGC 0.557000 9 60 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088883 86088883 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:86088883C>T ENST00000330753.4 + 2 1792 c.1025C>T c.(1024-1026)cCt>cTt p.P342L FLRT2_ENST00000554746.1_Missense_Mutation_p.P342L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 342 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TGCCAAGGTCCTGAACAAGTC 0.507000 29 141 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487294 56487294 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56487294G>A ENST00000267101.3 + 12 1880 c.1440G>A c.(1438-1440)gaG>gaA p.E480E ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.E421E NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 480 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTACGGAAGAGCGACTAGACA 0.542000 9 68 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034544 96034544 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:96034544A>G ENST00000358812.4 + 2 363 c.229A>G c.(229-231)Aaa>Gaa p.K77E MANEA_ENST00000369293.1_Missense_Mutation_p.K77E NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 77 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) CAAGAATTTAAAAAGTGTTGA 0.333000 5 85 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84472808 84472808 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84472808C>T ENST00000416219.2 + 12 1112 c.1023C>T c.(1021-1023)atC>atT p.I341I ATP2C2_ENST00000262429.4_Silent_p.I341I|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 341 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GTCTGCCCATCGTCGTCATGG 0.567000 6 55 0 0 1 0 0 DHX15 1665 broad.mit.edu 37 4 24543556 24543556 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:24543556A>G ENST00000336812.4 - 8 1581 c.1425T>C c.(1423-1425)cgT>cgC p.R475R NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 475 Helicase C-terminal. mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) CAGGTCTGGTACGTCCAGCTC 0.428000 8 45 0 0 1 0 0 PHOSPHO1 162466 broad.mit.edu 37 17 47304121 47304121 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:47304121C>T ENST00000413580.1 - 2 299 c.e2-1 PHOSPHO1_ENST00000514112.1_5'UTR|PHOSPHO1_ENST00000310544.4_Splice_Site NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) TCACACGTTCCTGACAACCAC 0.562000 4 30 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335105 42335105 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42335105G>A ENST00000262418.6 - 12 1508 c.1353C>T c.(1351-1353)ttC>ttT p.F451F NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 451 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) CCAGCAGGGCGAAGAGAATGC 0.592000 11 44 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51198102 51198102 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:51198102G>A ENST00000266037.9 + 12 1029 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 336 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGAAGTAAAGGAAGAAAAGGA 0.443000 3 11 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81205363 81205363 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81205363C>T ENST00000552864.1 - 5 785 c.583G>A c.(583-585)Gaa>Aaa p.E195K NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 195 exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 GCCTCCATTTCTTCCAGAACT 0.512000 5 32 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109050778 109050778 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:109050778C>T ENST00000335658.6 - 3 333 c.279G>A c.(277-279)ctG>ctA p.L93L DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 93 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCCGGTGAATCAGATTAACAG 0.547000 12 122 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92469970 92469970 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:92469970G>A ENST00000370389.2 + 17 3093 c.e17-1 BRDT_ENST00000399546.2_Splice_Site|BRDT_ENST00000394530.3_Splice_Site|BRDT_ENST00000402388.1_Splice_Site|BRDT_ENST00000362005.3_Splice_Site NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 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) ATTTGTTTTAGGATATAAAGA 0.313000 17 85 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345329 20345329 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20345329G>A ENST00000298642.2 + 1 939 c.903G>A c.(901-903)ctG>ctA p.L301L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGAGGAAACTGAAAAATAGGT 0.348000 4 76 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43281849 43281849 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:43281849G>A ENST00000269844.3 - 7 824 c.714C>T c.(712-714)ttC>ttT p.F238F PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CACAGTCACTGAACTTGTGTG 0.493000 3 18 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4247730 4247730 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:4247730G>A ENST00000404826.2 + 37 5353 c.e37-1 SDK1_ENST00000389531.3_Splice_Site NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTTCCTAACAGATTTACTACT 0.562000 7 76 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21437843 21437843 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:21437843G>A ENST00000313654.9 + 33 4413 c.4172G>A c.(4171-4173)cGa>cAa p.R1391Q LAMA3_ENST00000399516.3_Missense_Mutation_p.R1391Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1391 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTGTGACCGATGTGCTTCC 0.498000 14 79 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114293187 114293187 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:114293187G>A ENST00000309235.5 + 3 603 c.445G>A c.(445-447)Gag>Aag p.E149K ZNF483_ENST00000355824.3_Missense_Mutation_p.E149K|ZNF483_ENST00000358151.4_Missense_Mutation_p.E149K NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 149 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TGTTTCCCAAGAGGAGAACTC 0.368000 4 57 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128135050 128135050 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128135050G>A ENST00000368250.1 - 5 997 c.499C>T c.(499-501)Ccc>Tcc p.P167S THEMIS_ENST00000368248.2_Missense_Mutation_p.P246S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P246S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P211S Q8N1K5 THMS1_HUMAN thymocyte selection associated 246 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCTAGACTGGGGAGGATGCGG 0.353000 10 91 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681201 100681201 + Silent SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100681201C>G ENST00000306151.4 + 3 6568 c.6504C>G c.(6502-6504)gtC>gtG p.V2168V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2168 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTATGCCTGTCAGCACCACAG 0.468000 25 364 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50822772 50822772 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:50822772C>T ENST00000398473.2 + 3 333 c.221C>T c.(220-222)tCa>tTa p.S74L LARP4_ENST00000429001.3_Missense_Mutation_p.S80L|LARP4_ENST00000347328.5_Missense_Mutation_p.S74L|LARP4_ENST00000522085.1_Missense_Mutation_p.S74L|LARP4_ENST00000518444.1_Missense_Mutation_p.S73L|LARP4_ENST00000518561.1_Missense_Mutation_p.S4L|LARP4_ENST00000293618.8_Missense_Mutation_p.S74L NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 74 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 ATGTATTCTTCATCTTGTGAA 0.323000 14 44 0 0 1 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147297 26147297 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:26147297G>A ENST00000331351.5 + 2 1491 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 367 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CCCCGCCGGGGAAATGGCCAA 0.502000 18 62 0 0 1 0 0 CLEC2L 154790 broad.mit.edu 37 7 139229058 139229058 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139229058C>T ENST00000422142.2 + 5 687 c.615C>T c.(613-615)ccC>ccT p.P205P NM_001080511.2 NP_001073980.2 P0C7M8 CLC2L_HUMAN C-type lectin domain family 2, member L 205 C-type lectin. integral to membrane sugar binding NS(1)|endometrium(1)|kidney(2)|lung(1) 5 Melanoma(164;0.233) TGACCCGGCCCTGGGTGTGCA 0.637000 4 25 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47317690 47317690 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:47317690G>A ENST00000398879.1 - 31 4688 c.4322C>T c.(4321-4323)tCc>tTc p.S1441F TNS3_ENST00000355730.3_Missense_Mutation_p.S1201F|TNS3_ENST00000311160.9_Missense_Mutation_p.S1441F Q68CZ2 TENS3_HUMAN tensin 3 1441 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTTCTTTGGGGAACCAATCAT 0.577000 8 33 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703934 4703934 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4703934G>A ENST00000396950.3 - 2 247 c.8C>T c.(7-9)tCc>tTc p.S3F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) GAAGTTGCAGGAACTCATAGC 0.507000 4 41 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659177 50659177 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:50659177C>T ENST00000252677.3 + 2 749 c.749C>T c.(748-750)cCc>cTc p.P250L NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 250 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity p.P250F(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) AAATTTCTTCCCAGGGGCATG 0.463000 7 14 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131486883 131486883 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:131486883C>T ENST00000309926.4 + 1 241 c.159C>T c.(157-159)ttC>ttT p.F53F NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 53 CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) ACTGGCTTTTCCTTCCCTCAA 0.632000 7 34 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816047 16816047 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:16816047C>T ENST00000355661.3 - 19 2743 c.2733G>A c.(2731-2733)gcG>gcA p.A911A PLEKHA7_ENST00000448080.2_Silent_p.A911A|PLEKHA7_ENST00000531066.1_Silent_p.A911A|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 911 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CTTTGGGCTTCGCCTTAGTTG 0.522000 17 70 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55223686 55223686 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55223686G>A ENST00000340465.2 + 6 788 c.701_splice c.e6-1 p.R234_splice NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 234 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTTCTCTAGGAGGCACTATA 0.388000 17 59 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155348300 155348300 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:155348300G>A ENST00000368346.3 - 9 6871 c.6232C>T c.(6232-6234)Cgt>Tgt p.R2078C ASH1L_ENST00000392403.3_Missense_Mutation_p.R2073C Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2078 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.R2073C(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCACTTGAACGAATTTTCTTA 0.343000 8 41 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117243763 117243763 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:117243763G>A ENST00000003084.6 + 17 2967 c.2835G>A c.(2833-2835)tcG>tcA p.S945S CFTR_ENST00000454343.1_Silent_p.S884S NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 945 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.S945S(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCACAGTGTCGAAAATTTTAC 0.398000 Cystic Fibrosis 11 92 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46135628 46135628 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46135628C>T ENST00000371383.2 - 3 632 c.372G>A c.(370-372)tgG>tgA p.W124* ENPP5_ENST00000230565.3_Nonsense_Mutation_p.W124* Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 124 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 GGTTTGTGATCCATATTGGTG 0.408000 15 91 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361587 105361587 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:105361587G>A ENST00000297581.2 + 2 856 c.807G>A c.(805-807)ctG>ctA p.L269L DCSTAMP_ENST00000517991.1_Silent_p.L269L|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 269 osteoclast differentiation cell surface|integral to membrane|plasma membrane TGCTCCCGCTGAATAAGGAGG 0.468000 11 73 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048073 6048073 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6048073G>A ENST00000316650.5 - 1 898 c.862C>T c.(862-864)Cac>Tac p.H288Y NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAATAAGGTGATGAAGGACG 0.468000 8 85 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159567960 159567960 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:159567960G>A ENST00000307765.5 + 16 1614 c.1363G>A c.(1363-1365)Gga>Aga p.G455R RXFP1_ENST00000343542.5_Missense_Mutation_p.G407R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G422R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G374R|RXFP1_ENST00000448688.2_Missense_Mutation_p.G350R NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 455 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CTGCTTAATGGGAATATATTT 0.358000 8 92 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110112665 110112665 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:110112665G>A ENST00000230124.3 + 20 2391 c.2267G>A c.(2266-2268)aGc>aAc p.S756N FIG4_ENST00000441478.2_Missense_Mutation_p.S479N NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 756 Poly-Ser. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCTGTGTCCAGCAGCTCTGAG 0.542000 8 81 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103179671 103179671 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103179671G>A ENST00000424685.2 - 45 7193 c.7034C>T c.(7033-7035)cCc>cTc p.P2345L RELN_ENST00000428762.1_Missense_Mutation_p.P2345L|RELN_ENST00000343529.5_Missense_Mutation_p.P2345L P78509 RELN_HUMAN reelin 2345 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCACACACGGGCATCTTGGT 0.493000 8 41 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49210283 49210283 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:49210283G>A ENST00000406846.2 - 7 666 c.547C>T c.(547-549)Caa>Taa p.Q183* FSHR_ENST00000304421.4_Nonsense_Mutation_p.Q157*|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Nonsense_Mutation_p.Q183*|FSHR_ENST00000469138.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 183 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TGTATTTCTTGAATCCCATTC 0.378000 Gonadal Dysgenesis, 46 XX 4 23 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15417984 15417984 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrY:15417984C>A ENST00000331397.4 - 21 4066 c.3059G>T c.(3058-3060)aGg>aTg p.R1020M UTY_ENST00000362096.4_Missense_Mutation_p.R1020M|UTY_ENST00000537580.1_Missense_Mutation_p.R941M|UTY_ENST00000382896.4_Missense_Mutation_p.R1065M NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 1020 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 TTTCCTTCTCCTTCCAGAACT 0.358000 3 15 6.4e-05 6.44459e-05 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201194981 201194981 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:201194981C>T ENST00000335211.4 + 22 10646 c.10516C>T c.(10516-10518)Ctg>Ttg p.L3506L IGFN1_ENST00000295591.8_Silent_p.T600T NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCCATCCACCTGCAGGAGAA 0.682000 7 36 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186281401 186281401 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:186281401G>A ENST00000445192.2 + 11 3933 c.3888G>A c.(3886-3888)acG>acA p.T1296T PRG4_ENST00000367485.4_Silent_p.T1203T|PRG4_ENST00000367486.3_Silent_p.T1253T|PRG4_ENST00000367483.4_Silent_p.T1255T|PRG4_ENST00000367484.3_Silent_p.T825T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1296 T -> M (in dbSNP:rs12134934). cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ATGGAGAAACGACACAGGTTA 0.443000 19 88 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126146083 126146083 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:126146083C>T ENST00000373624.2 - 21 1888 c.1687G>A c.(1687-1689)Gac>Aac p.D563N DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.D348N|DENND1A_ENST00000394219.3_Missense_Mutation_p.D574N NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 563 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GCAGCCCGGTCAGGGGGAGCT 0.632000 18 108 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132092370 132092370 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:132092370G>A ENST00000370836.2 - 2 676 c.261C>T c.(259-261)ttC>ttT p.F87F HS6ST2_ENST00000521489.1_Silent_p.F87F NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 87 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ACAGCAGCGCGAAAAGCGGGG 0.726000 3 14 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915202 176915202 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176915202C>T ENST00000367654.2 - 13 2146 c.2133G>A c.(2131-2133)acG>acA p.T711T ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.T703T|ASTN1_ENST00000361833.2_Silent_p.T703T|ASTN1_ENST00000367657.3_Silent_p.T703T O14525 ASTN1_HUMAN astrotactin 1 711 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 GACAGGTCTCCGTGATGAGTT 0.498000 14 72 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104163179 104163179 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104163179G>A ENST00000414303.2 + 5 815 c.751G>A c.(751-753)Gat>Aat p.D251N NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 251 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) CTAGGTAATTGATCTGGGTGG 0.343000 7 156 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137793 63137793 + Missense_Mutation SNP C C T rs143461929 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63137793C>T ENST00000279178.3 + 1 514 c.265C>T c.(265-267)Cgt>Tgt p.R89C SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 89 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AGAGAAGTGTCGTCGCTTTGT 0.537000 5 86 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70944574 70944574 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70944574G>A ENST00000357250.6 - 34 2340 c.2182C>T c.(2182-2184)Cca>Tca p.P728S COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P485S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.P485S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 728 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGTCCTCTTGGTCCTTCCACT 0.632000 7 37 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43159890 43159890 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:43159890C>T ENST00000522175.2 + 0 746 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGCCAAACAACTCTTCTGGAA 0.333000 6 75 0 0 1 0 0 CDHR4 389118 broad.mit.edu 37 3 49836761 49836761 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:49836761C>T ENST00000412678.2 - 2 167 c.159G>A c.(157-159)ctG>ctA p.L53L CDHR4_ENST00000343366.4_Silent_p.L53L|CDHR4_ENST00000487256.1_Silent_p.L53L NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 53 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 TGAGCAACTCCAGGGTGGGTG 0.567000 3 13 0 0 1 0 0 PRKAG2 51422 broad.mit.edu 37 7 151292436 151292436 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:151292436A>T ENST00000287878.4 - 6 1363 c.859T>A c.(859-861)Tta>Ata p.L287I PRKAG2_ENST00000492843.1_Missense_Mutation_p.L163I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L243I|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L162I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.L46I NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 287 CBS 1. ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CTTACTTGTAATGTAGTATCA 0.353000 8 35 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023298 18023298 + Missense_Mutation SNP C C T rs140221279 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:18023298C>T ENST00000205890.5 + 2 1522 c.1184C>T c.(1183-1185)cCc>cTc p.P395L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 395 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATCTACCCCCCCGAGGTGCCC 0.627000 7 61 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048917 143048917 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143048917G>A ENST00000343257.2 + 23 2913 c.2826G>A c.(2824-2826)ctG>ctA p.L942L NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 942 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTCTCTCCCTGGCCCCAGGCA 0.662000 7 65 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72968699 72968699 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:72968699G>A ENST00000264839.7 + 18 2938 c.2938G>A c.(2938-2940)Gaa>Aaa p.E980K RIMS1_ENST00000518273.1_Missense_Mutation_p.E980K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E980K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E373K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E979K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E439K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E979K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E979K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E980K|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.E453K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E979K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E454K Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 980 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GAGTTTAGATGAAATTCATCC 0.383000 9 75 0 0 1 0 0 HTR2A 3356 broad.mit.edu 37 13 47409714 47409714 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:47409714C>T ENST00000378688.4 - 3 805 c.674G>A c.(673-675)gGg>gAg p.G225E HTR2A_ENST00000543956.1_Missense_Mutation_p.G141E|HTR2A_ENST00000542664.1_Missense_Mutation_p.G225E P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 225 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TAAGCAACTCCCCTCCTTAAA 0.408000 8 52 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121211696 121211696 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:121211696G>A ENST00000297848.3 + 8 1038 c.768G>A c.(766-768)agG>agA p.R256R COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000309791.4_Silent_p.R256R|COL14A1_ENST00000537875.1_Silent_p.R256R|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 256 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGGATCAAGGACTGGAGTAT 0.368000 5 23 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120760603 120760603 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:120760603T>C ENST00000273666.6 + 4 615 c.344T>C c.(343-345)cTa>cCa p.L115P STXBP5L_ENST00000472879.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L115P|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L115P NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 115 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCAGCTGTCCTACAGCTCCAA 0.363000 10 40 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44561764 44561764 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:44561764G>A ENST00000289547.4 - 11 2770 c.2715C>T c.(2713-2715)acC>acT p.T905T NPC1L1_ENST00000381160.3_Silent_p.T905T|NPC1L1_ENST00000546276.1_Silent_p.T859T NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 905 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGTAGCCCAAGGTGGTAACAA 0.547000 5 26 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289280 132289280 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:132289280A>G ENST00000467992.2 + 2 1208 c.894A>G c.(892-894)tcA>tcG p.S298S CCDC74A_ENST00000409856.3_Silent_p.S130S|CCDC74A_ENST00000295171.6_Silent_p.S196S Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 196 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGCAAGATTCAAAAGCTGACG 0.582000 17 21 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814764 137814764 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:137814764C>T ENST00000409968.1 + 3 1092 c.914C>T c.(913-915)tCg>tTg p.S305L THSD7B_ENST00000413152.2_Missense_Mutation_p.S274L|THSD7B_ENST00000272643.3_Missense_Mutation_p.S305L|THSD7B_ENST00000543459.1_Missense_Mutation_p.S164L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGGCAGGTTTCGTGTACAAGA 0.363000 5 24 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51025800 51025800 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:51025800G>A ENST00000442544.2 + 27 4647 c.4031G>A c.(4030-4032)aGc>aAc p.S1344N RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S977N NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1344 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCACTCCGCAGCTTTGCTAAT 0.522000 13 97 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48259088 48259088 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:48259088G>A ENST00000435803.1 + 4 449 c.425G>A c.(424-426)cGa>cAa p.R142Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 142 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGGTAGAACGATCCAACACT 0.433000 24 119 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94066933 94066933 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94066933G>A ENST00000553484.1 + 25 3545 c.3391G>A c.(3391-3393)Gac>Aac p.D1131N UNC79_ENST00000393151.2_Missense_Mutation_p.D1131N|UNC79_ENST00000256339.4_Missense_Mutation_p.D954N|UNC79_ENST00000555664.1_Missense_Mutation_p.D1131N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1131 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 TCTTTGTCTTGACTTCCAGTT 0.383000 8 26 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457115 159457115 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:159457115C>T ENST00000367066.3 - 10 2271 c.1940G>A c.(1939-1941)aGa>aAa p.R647K RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R469K NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 647 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GCCCCTGTGTCTTGAGTCCTC 0.622000 5 91 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401788 140401788 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:140401788G>C ENST00000286349.3 + 2 1017 c.826G>C c.(826-828)Gtc>Ctc p.V276L NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 276 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCAAGACCACGTCTTTGTGGA 0.567000 6 34 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182585212 182585212 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:182585212A>C ENST00000323116.5 + 15 1928 c.1668A>C c.(1666-1668)aaA>aaC p.K556N NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 556 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGGAGGTTAAAACTCTTGGAA 0.299000 11 35 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68478369 68478369 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68478369G>A ENST00000255087.5 - 9 1490 c.1307C>T c.(1306-1308)tCa>tTa p.S436L NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 436 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGAAGTCCTGAAAATTTCGT 0.423000 10 30 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94502323 94502323 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94502323C>T ENST00000370225.3 - 26 3921 c.3835G>A c.(3835-3837)Gat>Aat p.D1279N NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1279 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GAATCAGAATCCTCCGTGACC 0.438000 42 147 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49574130 49574130 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49574130G>A ENST00000221444.1 - 2 916 c.561C>T c.(559-561)ccC>ccT p.P187P NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 187 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) TCAGCGGAGCGGGGAACTGCA 0.547000 4 20 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150909266 150909266 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150909266G>A ENST00000329903.4 + 4 408 c.374_splice c.e4-1 p.K125_splice NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 125 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTCTCAGGAAGAAATTTG 0.507000 15 103 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4832427 4832427 + Silent SNP C C T rs34307148 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:4832427C>T ENST00000378191.4 + 4 1386 c.1005C>T c.(1003-1005)ttC>ttT p.F335F AJAP1_ENST00000378190.3_Silent_p.F335F NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 335 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TCACGGACTTCCCCTCGGCCC 0.607000 11 43 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846749 55846749 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55846749G>A ENST00000322678.1 + 1 752 c.752G>A c.(751-753)gGa>gAa p.G251E RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 ATTGCCTATGGAAGCTGCATC 0.418000 7 63 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140752182 140752182 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140752182C>T ENST00000576222.1 + 1 2352 c.2221C>T c.(2221-2223)Ccc>Tcc p.P741S PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGTTCTCCCCACCTACAG 0.502000 6 37 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48580147 48580147 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:48580147G>A ENST00000262384.3 - 6 2480 c.2244C>T c.(2242-2244)ttC>ttT p.F748F N4BP1_ENST00000565423.1_Intron NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 748 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) TGTCCCCCACGAACGTGTACT 0.517000 10 80 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30890699 30890699 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30890699C>T ENST00000321897.5 + 22 2763 c.2131C>T c.(2131-2133)Cct>Tct p.P711S VARS2_ENST00000416670.2_Missense_Mutation_p.P711S|VARS2_ENST00000541562.1_Missense_Mutation_p.P741S|VARS2_ENST00000542001.1_Missense_Mutation_p.P571S|VARS2_ENST00000476162.1_3'UTR Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 711 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TCACGGGATCCCTGAGTGTGG 0.602000 12 111 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65032635 65032635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:65032635C>T ENST00000394156.3 - 4 806 c.353G>A c.(352-354)cGa>cAa p.R118Q CDH11_ENST00000268603.4_Missense_Mutation_p.R118Q|CDH11_ENST00000566827.1_5'UTR P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 118 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.R118Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCTCTCTTCTCGATCCAACGT 0.507000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 8 31 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32906615 32906615 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:32906615C>T ENST00000544455.1 + 10 1227 c.1000C>T c.(1000-1002)Cat>Tat p.H334Y BRCA2_ENST00000380152.3_Missense_Mutation_p.H334Y NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 334 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAAAATTTTCCATGAAGCAAA 0.294000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 11 70 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503639 40503639 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:40503639C>T ENST00000590910.1 - 5 515 c.386G>A c.(385-387)aGg>aAg p.R129K RIT2_ENST00000589109.1_Silent_p.Q108Q|RIT2_ENST00000282028.4_Silent_p.Q108Q|RIT2_ENST00000326695.5_Silent_p.Q108Q Q99578 RIT2_HUMAN Ras-like without CAAX 2 0 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGGCAGCCTCCTGAAATGATT 0.507000 37 261 0 0 1 0 0 CLDN19 149461 broad.mit.edu 37 1 43204144 43204144 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:43204144G>A ENST00000539749.1 - 2 526 c.336C>T c.(334-336)ccC>ccT p.P112P CLDN19_ENST00000296387.1_Silent_p.P112P|CLDN19_ENST00000372539.3_Silent_p.P112P NM_001185117.1 NP_001172046.1 Q8N6F1 CLD19_HUMAN claudin 19 112 calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding breast(2)|large_intestine(1)|lung(2)|skin(1) 6 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTTGGCAATGGGGTTGCTGT 0.652000 7 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481580 179481580 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179481580C>T ENST00000589042.1 - 256 48260 c.48036G>A c.(48034-48036)aaG>aaA p.K16012K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.K6947K|TTN_ENST00000359218.5_Silent_p.K7072K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.K14371K|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.K7139K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.K13444K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14371 Fibronectin type-III 16. 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) CAGACAAGGTCTTCATTTTCA 0.438000 14 63 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202409 140202409 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140202409C>T ENST00000529859.1 + 1 1049 c.1049C>T c.(1048-1050)gCc>gTc p.A350V PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A350V|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A350V|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_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) CCAGAGATGGCCATAACCACC 0.473000 8 42 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51795209 51795209 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51795209G>A ENST00000251076.5 - 17 3073 c.2786C>T c.(2785-2787)tCc>tTc p.S929F DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S929F NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 929 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ACTCTCAGAGGAAGCCCCTTC 0.358000 8 63 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124598622 124598622 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:124598622G>A ENST00000368904.1 - 5 1308 c.359C>T c.(358-360)tCc>tTc p.S120F CUZD1_ENST00000545804.1_Missense_Mutation_p.S120F|CUZD1_ENST00000392790.1_Missense_Mutation_p.S120F Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 120 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CAATGTACTGGATGATGATTC 0.398000 10 178 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086313 100086313 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100086313C>T ENST00000423930.1 + 4 1128 c.969C>T c.(967-969)atC>atT p.I323I NYAP1_ENST00000454988.1_Silent_p.I266I|NYAP1_ENST00000300179.2_Silent_p.I323I Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 323 Pro-rich. CTTGTGAAATCCCCCCGCCCT 0.682000 9 76 0 0 1 0 0 KIF3B 9371 broad.mit.edu 37 20 30898185 30898185 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30898185C>T ENST00000375712.3 + 2 772 c.605C>T c.(604-606)tCt>tTt p.S202F NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 202 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAGAACCGTTCTGTCGGTGCT 0.498000 6 58 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168725715 168725715 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:168725715C>T ENST00000305861.1 + 2 517 c.166C>T c.(166-168)Cga>Tga p.R56* AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Nonsense_Mutation_p.R56* NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 56 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 CATAAGAACTCGACCTATCAA 0.408000 11 84 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20698181 20698181 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:20698181A>C ENST00000404938.2 + 14 2241 c.1589A>C c.(1588-1590)aAa>aCa p.K530T ABCB5_ENST00000406935.1_Missense_Mutation_p.K85T|ABCB5_ENST00000443026.2_Missense_Mutation_p.K85T|ABCB5_ENST00000258738.6_Missense_Mutation_p.K85T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 85 ABC transmembrane type-1. 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 GGAGGGCAGAAACAGAGGATC 0.433000 4 50 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220497036 220497036 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220497036G>A ENST00000358055.3 + 8 1525 c.1013G>A c.(1012-1014)tGg>tAg p.W338* SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.W365*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.W338*|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.W338*|SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.W365* P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 338 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGCCCCACTGGCGGGAGACG 0.667000 4 58 0 0 1 0 0 MIIP 60672 broad.mit.edu 37 1 12091441 12091441 + Missense_Mutation SNP C C T rs150213244 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12091441C>T ENST00000235332.4 + 9 1230 c.1061C>T c.(1060-1062)aCc>aTc p.T354I MIIP_ENST00000436478.2_Missense_Mutation_p.P322S|MIIP_ENST00000466860.1_3'UTR NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 354 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CTGTCCGGCACCAGCAGCCCT 0.627000 4 106 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529936 80529936 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:80529936C>T ENST00000295057.3 - 2 1665 c.1009G>A c.(1009-1011)Gat>Aat p.D337N CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 337 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AAGTTGCCATCGTAGCGCCCC 0.657000 HNSCC(69;0.2) 3 28 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21940630 21940630 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21940630C>T ENST00000328843.6 + 83 13361 c.13330C>T c.(13330-13332)Cgc>Tgc p.R4444C CDCA7L_ENST00000356195.5_3'UTR|CDCA7L_ENST00000406877.3_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.R4437C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4444 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CATAGGCGCCCGCTGGGACAC 0.493000 Kartagener syndrome 26 165 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75773500 75773500 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:75773500G>A ENST00000376911.1 + 1 931 c.49G>A c.(49-51)Gaa>Aaa p.E17K ANXA1_ENST00000257497.6_Missense_Mutation_p.E17K P04083 ANXA1_HUMAN annexin A1 17 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) TATTGAAAATGAAGAGCAGGA 0.289000 13 53 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829535 57829535 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57829535C>T ENST00000371030.2 + 5 4771 c.4771C>T c.(4771-4773)Cct>Tct p.P1591S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1591 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) GACGTTTTTTCCTTCCAGAGG 0.478000 24 83 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126016 8126016 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:8126016T>G ENST00000223145.5 + 8 2049 c.1492T>G c.(1492-1494)Tca>Gca p.S498A NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 498 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TGAGCAGCTCTCATCCCGGGT 0.567000 21 278 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17213224 17213224 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:17213224C>T ENST00000595618.1 + 2 849 c.697C>T c.(697-699)Cag>Tag p.Q233* MYO9B_ENST00000593411.1_3'UTR|MYO9B_ENST00000594824.1_Nonsense_Mutation_p.Q233*|MYO9B_ENST00000397274.2_Nonsense_Mutation_p.Q233* NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 233 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCGCGTGAACCAGTGCATCGT 0.617000 13 83 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763924 92763924 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92763924C>T ENST00000318238.4 - 5 2577 c.1361G>A c.(1360-1362)gGa>gAa p.G454E SAMD9L_ENST00000411955.1_Missense_Mutation_p.G454E|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G454E NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 454 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTGACCACTCCATTGATCAT 0.348000 8 73 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122277865 122277865 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:122277865C>T ENST00000543163.1 - 14 1372 c.927G>A c.(925-927)ctG>ctA p.L309L HPD_ENST00000289004.4_Silent_p.L348L NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 348 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GGATGACTTCCAGGAAGAGCG 0.607000 12 94 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869882 151869882 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151869882G>A ENST00000329342.5 + 3 797 c.572G>A c.(571-573)gGt>gAt p.G191D NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 191 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTGCTGGGTGACAATCAG 0.557000 18 88 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160145912 160145912 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160145912C>T ENST00000368081.4 + 16 2813 c.2342C>T c.(2341-2343)tCc>tTc p.S781F ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 781 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGAAGAAATCCATCATGTAC 0.562000 35 209 0 0 1 0 0 TSPAN9 10867 broad.mit.edu 37 12 3388214 3388214 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:3388214C>T ENST00000011898.5 + 5 473 c.312C>T c.(310-312)ttC>ttT p.F104F TSPAN9_ENST00000407263.1_Silent_p.F104F|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Silent_p.F104F NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 104 integral to plasma membrane|membrane fraction endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) TCATCCTCTTCTTTGTCTACA 0.532000 10 50 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177098682 177098682 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:177098682T>G ENST00000393643.2 + 29 3906 c.3654T>G c.(3652-3654)acT>acG p.T1218T WDR17_ENST00000508596.1_Silent_p.T1203T|WDR17_ENST00000507824.2_Silent_p.T1217T|WDR17_ENST00000280190.4_Silent_p.T1242T NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1242 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTTATGCAACTTTATTAAAGA 0.318000 3 67 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114215982 114215982 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:114215982C>T ENST00000369615.1 + 19 3146 c.3084C>T c.(3082-3084)ccC>ccT p.P1028P MAGI3_ENST00000369611.4_Silent_p.P1028P|MAGI3_ENST00000369617.4_Silent_p.P1053P|MAGI3_ENST00000307546.9_Silent_p.P1028P NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1053 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAGAGGCCCCCGGGGCTTTG 0.478000 9 125 0 0 1 0 0 MIEF1 54471 broad.mit.edu 37 22 39908029 39908029 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:39908029C>T ENST00000325301.2 + 4 744 c.320C>T c.(319-321)aCa>aTa p.T107I SMCR7L_ENST00000402881.1_Missense_Mutation_p.T107I|SMCR7L_ENST00000404569.1_Missense_Mutation_p.T107I NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 107 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) ACCTTCGACACAGGTGAGAAG 0.602000 14 65 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134039325 134039325 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:134039325C>T ENST00000359428.5 + 20 2936 c.2792C>T c.(2791-2793)tCc>tTc p.S931F RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S932F|RP11-544A12.4_ENST00000417798.2_RNA|RP11-544A12.4_ENST00000588325.1_RNA|RP11-544A12.4_ENST00000589128.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S921F|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000586662.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 931 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CACACCAAATCCTTGCCCAAA 0.388000 T """DEK, SET, ABL1""" """AML, T-ALL""" 29 95 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17122971 17122971 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:17122971G>A ENST00000265970.7 - 24 3861 c.3862C>T c.(3862-3864)Cct>Tct p.P1288S PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.P908S NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1288 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) AGCACAAAAGGAGCCCGATCC 0.383000 4 37 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032840 193032840 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:193032840C>T ENST00000342358.4 - 18 2196 c.2079G>A c.(2077-2079)atG>atA p.M693I NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 693 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGCGATTCTCCATGATGAGAA 0.388000 15 90 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242492 53242492 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53242492G>A ENST00000304620.4 - 1 286 c.223C>T c.(223-225)Ctc>Ttc p.L75F NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 75 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CACAGGGAGAGCCCAGGCCCA 0.622000 4 41 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90012538 90012538 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:90012538C>T ENST00000405460.2 + 43 9535 c.9439C>T c.(9439-9441)Cga>Tga p.R3147* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3147 Calx-beta 22. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAAGGTGTTCGATTCAAGGT 0.328000 16 40 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169707602 169707602 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:169707602G>A ENST00000444448.2 + 12 1286 c.810G>A c.(808-810)ctG>ctA p.L270L NOSTRIN_ENST00000397209.2_Silent_p.L185L|NOSTRIN_ENST00000317647.7_Silent_p.L213L|NOSTRIN_ENST00000458381.2_Silent_p.L270L|NOSTRIN_ENST00000445023.2_Silent_p.L135L|NOSTRIN_ENST00000421711.2_Silent_p.L185L|NOSTRIN_ENST00000397206.2_Silent_p.L135L Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 213 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 AGAGCATTCTGGAGCTGGAGA 0.403000 9 76 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134117 27134117 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:27134117G>A ENST00000343060.4 - 2 1011 c.950C>T c.(949-951)tCg>tTg p.S317L HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 317 Poly-Ser. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AACGCAGGGCGAAGAGCTGGA 0.607000 5 64 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170618602 170618602 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:170618602C>T ENST00000513761.1 + 9 1839 c.1280C>T c.(1279-1281)cCc>cTc p.P427L CLCN3_ENST00000504131.2_Missense_Mutation_p.P410L|CLCN3_ENST00000360642.3_Missense_Mutation_p.P400L|CLCN3_ENST00000347613.4_Missense_Mutation_p.P427L NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 427 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GGAAAGTATCCCGTTCTGGAA 0.443000 18 63 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80681643 80681643 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:80681643C>T ENST00000307624.3 - 2 158 c.130G>A c.(130-132)Gag>Aag p.E44K ACOT12_ENST00000513751.1_Missense_Mutation_p.E44K NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 44 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GCATGTTTCTCAGCTTCAAAA 0.393000 8 27 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053050 15053050 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15053050C>T ENST00000248072.3 + 1 750 c.750C>T c.(748-750)ttC>ttT p.F250F NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) TCAGCTTGTTCTATGGCACTG 0.527000 9 108 0 0 1 0 0 SNTB2 6645 broad.mit.edu 37 16 69279525 69279525 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:69279525A>G ENST00000336278.4 + 2 639 c.601A>G c.(601-603)Aca>Gca p.T201A SNTB2_ENST00000528525.1_3'UTR NM_006750.3 NP_006741.1 Q13425 SNTB2_HUMAN syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) 201 PH 1. cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) CCGAGAAGTAACACCATATAT 0.403000 25 131 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117701773 117701773 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:117701773G>A ENST00000317775.6 - 13 2828 c.2143C>T c.(2143-2145)Ccc>Tcc p.P715S NOS1_ENST00000338101.4_Missense_Mutation_p.P715S|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 715 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTGTTCCAGGGATCAGGCTGG 0.577000 23 77 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134911575 134911575 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:134911575C>T ENST00000398015.3 + 11 2410 c.2040C>T c.(2038-2040)atC>atT p.I680I EPHB1_ENST00000493838.1_Silent_p.I241I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 680 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 ATCCTAACATCATTCGCCTGG 0.537000 6 37 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137988731 137988731 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:137988731C>T ENST00000409968.1 + 8 2019 c.1841C>T c.(1840-1842)tCc>tTc p.S614F THSD7B_ENST00000413152.2_Missense_Mutation_p.S583F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S614F|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCATCCTGTTCCCAGTCCTGT 0.502000 3 30 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45945579 45945579 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45945579C>G ENST00000323084.4 - 8 1358 c.1293G>C c.(1291-1293)gaG>gaC p.E431D C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.E363D NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 431 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCCCATCCACCTCGAAGGCCT 0.587000 19 164 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52870047 52870047 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:52870047G>A ENST00000356971.3 - 15 2288 c.1799C>T c.(1798-1800)aCc>aTc p.T600I ICK_ENST00000350082.5_Missense_Mutation_p.T600I NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 600 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TCTAGGCTGGGTGTGGAAGAA 0.572000 9 69 0 0 1 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233235 56233235 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:56233235G>A ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA ACCGCCCTACGATAAGAAAAA 0.582000 3 14 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42293297 42293297 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42293297G>A ENST00000302904.4 - 4 787 c.295C>T c.(295-297)Cct>Tct p.P99S UBTF_ENST00000436088.1_Missense_Mutation_p.P99S|UBTF_ENST00000529383.1_Missense_Mutation_p.P99S|UBTF_ENST00000526094.1_Missense_Mutation_p.P99S|UBTF_ENST00000533177.1_Missense_Mutation_p.P99S|UBTF_ENST00000393606.3_Missense_Mutation_p.P99S|UBTF_ENST00000343638.5_Missense_Mutation_p.P99S|UBTF_ENST00000527034.1_Missense_Mutation_p.P99S|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 99 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) CCTTTGTAAGGATTTTTAACA 0.468000 4 75 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968151 69968151 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:69968151C>T ENST00000299293.2 + 10 1453 c.943C>T c.(943-945)Cct>Tct p.P315S FRS2_ENST00000397997.2_Missense_Mutation_p.P315S|FRS2_ENST00000549921.1_Missense_Mutation_p.P315S|FRS2_ENST00000550389.1_Missense_Mutation_p.P315S NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 315 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTATCTATCCCTAGTGCCTC 0.433000 9 80 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142741801 142741801 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:142741801C>T ENST00000473835.2 + 12 1215 c.1125C>T c.(1123-1125)ccC>ccT p.P375P U2SURP_ENST00000493598.2_Silent_p.P374P|U2SURP_ENST00000397933.2_5'UTR NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 375 Pro-rich. RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 ATACGCTTCCCCCACCTCCAT 0.438000 4 20 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11726320 11726320 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:11726320G>A ENST00000262442.3 + 48 9283 c.9215G>A c.(9214-9216)gGg>gAg p.G3072E DNAH9_ENST00000454412.2_Missense_Mutation_p.G3072E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3072 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTGGAGAACGGGCTGCTGAAG 0.552000 6 21 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117724340 117724340 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117724340G>A ENST00000368508.3 - 6 737 c.539C>T c.(538-540)tCc>tTc p.S180F GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S189F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 180 Fibronectin type-III 1. 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) ACTTGGAGGGGAGTAGAGCTG 0.478000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 5 48 0 0 1 0 0 DDIT4L 115265 broad.mit.edu 37 4 101111092 101111092 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:101111092C>T ENST00000273990.2 - 2 263 c.49G>A c.(49-51)Gaa>Aaa p.E17K RP11-15B17.1_ENST00000515026.1_RNA NM_145244.3 NP_660287.1 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 17 negative regulation of signal transduction cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2) 12 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TCCAGCAATTCTGAAATGCTG 0.582000 9 63 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428970 57428970 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57428970G>A ENST00000371100.4 + 1 1202 c.650G>A c.(649-651)aGc>aAc p.S217N GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S217N|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A154T|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S217N|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGAGGCTACAGCCCTCCCCCT 0.642000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 13 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446683 226446683 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:226446683G>A ENST00000272907.6 + 4 963 c.550G>A c.(550-552)Gat>Aat p.D184N NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 184 ACCCCACAGCGATGAATATTC 0.413000 28 117 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7578550G>A ENST00000420246.2 - 5 512 c.380C>T c.(379-381)tCc>tTc p.S127F TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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) GAGGGCAGGGGAGTACTGTAG 0.552000 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) 7 28 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471527 121471527 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:121471527C>T ENST00000257570.5 - 2 488 c.218G>A c.(217-219)gGc>gAc p.G73D OASL_ENST00000339275.5_Missense_Mutation_p.G73D NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 73 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) GAGAACCGTGCCATTCCCGAA 0.597000 10 92 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3773149 3773149 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:3773149G>A ENST00000381771.2 - 14 1419 c.1272C>T c.(1270-1272)atC>atT p.I424I CAMKK1_ENST00000381769.2_Silent_p.I413I|CAMKK1_ENST00000158166.5_Silent_p.I424I|CAMKK1_ENST00000348335.2_Silent_p.I386I Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 386 synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) ACATCTTCAGGATCAGGTCCT 0.582000 18 51 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12859274 12859274 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:12859274C>T ENST00000456430.2 + 10 2884 c.2843C>T c.(2842-2844)gCt>gTt p.A948V CAND2_ENST00000295989.5_Missense_Mutation_p.A855V NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 948 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TGCGAGGGTGCTGAGGAGGGC 0.667000 8 95 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938637 2938637 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:2938637G>A ENST00000378404.2 + 1 592 c.387G>A c.(385-387)gaG>gaA p.E129E NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 129 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCATGTTCGAGAACTTCGGCG 0.642000 13 36 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24774853 24774853 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:24774853G>A ENST00000221166.5 + 3 2267 c.1485G>A c.(1483-1485)aaG>aaA p.K495K NEFM_ENST00000437366.2_Silent_p.K495K|NEFM_ENST00000518131.1_Silent_p.K495K|NEFM_ENST00000433454.2_Silent_p.K119K|NEFM_ENST00000521540.1_3'UTR P07197 NFM_HUMAN neurofilament, medium polypeptide 495 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) cagaagaaaaggaagaggaac 0.468000 3 14 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725508 87725508 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:87725508C>T ENST00000305344.4 + 2 1159 c.456C>T c.(454-456)ttC>ttT p.F152F HTR1E_ENST00000369584.1_Silent_p.F152F NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 152 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) TCTCCATTTTCATCTCCATGC 0.552000 10 77 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179444318 179444318 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179444318C>T ENST00000589042.1 - 319 67830 c.67606G>A c.(67606-67608)Gaa>Aaa p.E22536K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13471K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13596K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20895K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13663K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19968K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20895 Fibronectin type-III 63. 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) ACAGTGATTTCGCTTGGGGTT 0.428000 19 96 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193672 62193672 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62193672C>A ENST00000467148.1 - 9 6435 c.6366G>T c.(6364-6366)ctG>ctT p.L2122L HELZ2_ENST00000427522.2_Silent_p.L1553L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CAGGCCGGCCCAGTGCGATGC 0.677000 10 26 1.61879e-10 1.63767e-10 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55566428 55566428 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:55566428C>T ENST00000373965.2 - 36 5360 c.4966G>A c.(4966-4968)Gaa>Aaa p.E1656K PCDH15_ENST00000414778.1_Missense_Mutation_p.E1653K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTATGAAATTCCAAAGCCTCC 0.448000 HNSCC(58;0.16) 14 93 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110499029 110499029 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110499029G>A ENST00000378402.5 + 59 9963 c.9859G>A c.(9859-9861)Gaa>Aaa p.E3287K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3287 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTCATTCACTGAAAATATGAT 0.368000 HNSCC(38;0.096) 19 162 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55242487 55242487 + Missense_Mutation SNP C C T rs121913438 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:55242487C>T ENST00000275493.2 + 19 2434 c.2257C>T c.(2257-2259)Ccg>Tcg p.P753S EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.P708S|EGFR_ENST00000454757.2_Missense_Mutation_p.P700S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 753 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L747_P753>S(123)|p.S752_I759del(13)|p.T751_I759>N(8)|p.L747_P753>Q(7)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753S(2)|p.E746_P753>VS(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.L747_P753del(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.P753_I759del(1)|p.A750_K754del(1)|p.E746_P753>LS(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.E746_P753>VQ(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCAACATCTCCGAAAGCCAA 0.483000 L747_P753>Q(HCC4006_LUNG)|P753S(SKMEL28_SKIN) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 49 0 0 1 0 0 RDH8 50700 broad.mit.edu 37 19 10127734 10127734 + Splice_Site SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:10127734C>G ENST00000591589.1 + 2 354 c.163_splice c.e2-1 p.V55_splice RDH8_ENST00000171214.1_Splice_Site_p.V35_splice Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 35 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GCCCCGCAGTCGTGGCCACCA 0.622000 5 12 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938643 2938643 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:2938643C>T ENST00000378404.2 + 1 598 c.393C>T c.(391-393)ttC>ttT p.F131F NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 131 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCGAGAACTTCGGCGTGCCCG 0.632000 6 43 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325439 47325439 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47325439G>A ENST00000505841.1 - 0 1090 NR_002788.2 TGTGGCGTAAGGCATCTGGCT 0.512000 22 94 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038336 43038336 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43038336G>A ENST00000267890.6 - 15 3500 c.3392C>T c.(3391-3393)cCa>cTa p.P1131L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1131 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGGAGATCCTGGACTCTTGCA 0.537000 20 79 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61834644 61834644 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61834644C>T ENST00000280772.1 - 37 6186 c.5995G>A c.(5995-5997)Gaa>Aaa p.E1999K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1999 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGTCTGGCTTCCCGGATTTCT 0.448000 6 49 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579994 82579994 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82579994G>A ENST00000423517.2 - 6 10247 c.9910C>T c.(9910-9912)Cac>Tac p.H3304Y PCLO_ENST00000437081.1_Missense_Mutation_p.H24Y|PCLO_ENST00000333891.8_Missense_Mutation_p.H3304Y NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3235 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGCTGCTGGTGAAGCTGTTGT 0.493000 10 108 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237229 140237229 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140237229C>T ENST00000307360.5 + 1 1596 c.1596C>T c.(1594-1596)ttC>ttT p.F532F PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.F532F|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTACAGTTCCAGGTGAGCG 0.682000 13 63 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2578381 2578381 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2578381G>A ENST00000340611.4 - 14 2044 c.1788C>T c.(1786-1788)ctC>ctT p.L596L BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 596 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 GGATGTGCAGGAGCTCCAGGA 0.672000 7 45 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6472805 6472805 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:6472805C>T ENST00000263125.5 - 17 2031 c.1932G>A c.(1930-1932)cgG>cgA p.R644R PRKCQ_ENST00000539722.1_Silent_p.R519R|PRKCQ_ENST00000397176.2_Silent_p.R581R NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 644 AGC-kinase C-terminal. 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 CAATCTCCTTCCGTTCAAGTT 0.602000 10 53 0 0 1 0 0 SNURF 8926 broad.mit.edu 37 15 25207321 25207321 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:25207321C>T ENST00000338094.6 + 2 136 c.75C>T c.(73-75)gtC>gtT p.V25V SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.V25V|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000577949.1_Silent_p.V25V|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR NM_003097.3|NM_005678.3 NP_003088.1|NP_005669.2 SNRPN upstream reading frame breast(2)|large_intestine(2)|lung(1) 5 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) AAGTCCAAGTCAAACGCAGAA 0.448000 7 47 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55862811 55862811 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:55862811C>T ENST00000422046.2 - 2 406 c.125G>A c.(124-126)gGa>gAa p.G42E CES1_ENST00000361503.4_Missense_Mutation_p.G42E|CES1_ENST00000360526.3_Missense_Mutation_p.G43E P23141 EST1_HUMAN carboxylesterase 1 42 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CTGTGCAAATCCTTCTAAGCT 0.562000 6 60 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552537 1552537 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:1552537G>A ENST00000381605.4 - 3 644 c.580C>T c.(580-582)Cag>Tag p.Q194* RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 194 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 ACGTTGGTCTGGAAGTCTGAG 0.557000 14 85 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30831043 30831043 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:30831043C>T ENST00000265299.6 + 5 1003 c.926C>T c.(925-927)cCc>cTc p.P309L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 309 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCGAGGGATCCCTCCGAGGAC 0.617000 11 58 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179732822 179732822 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179732822G>A ENST00000420890.2 - 16 2622 c.2505C>T c.(2503-2505)gcC>gcT p.A835A CCDC141_ENST00000295723.5_Silent_p.A260A NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 260 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GGTCTACACGGGCTTGCTTTT 0.493000 10 45 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60908707 60908707 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60908707G>A ENST00000252999.3 - 24 3000 c.2934C>T c.(2932-2934)atC>atT p.I978I NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 978 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGGCACGGTGATGAAGGCAG 0.701000 3 6 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56676956 56676956 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:56676956G>A ENST00000389934.3 - 14 1867 c.1750C>T c.(1750-1752)Cca>Tca p.P584S TEX14_ENST00000349033.5_Missense_Mutation_p.P584S|TEX14_ENST00000240361.8_Missense_Mutation_p.P590S NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 590 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCAGACATGGATCTGGGGCC 0.512000 9 61 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55420755 55420755 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55420755G>A ENST00000594765.1 + 4 532 c.507G>A c.(505-507)ggG>ggA p.G169G NCR1_ENST00000350790.5_Silent_p.G74G|NCR1_ENST00000598576.1_Silent_p.G157G|NCR1_ENST00000447255.1_Silent_p.G169G|NCR1_ENST00000291890.4_Silent_p.G169G|NCR1_ENST00000338835.5_Silent_p.G169G|NCR1_ENST00000357397.5_Silent_p.G62G O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 169 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GCGGATACGGGAAGGTCCAGG 0.572000 13 60 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153471384 153471384 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:153471384G>A ENST00000288670.9 + 12 1449 c.1082G>A c.(1081-1083)aGt>aAt p.S361N NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 361 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CACACTGAGAGTGACAAGCTT 0.418000 10 45 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667021 157667021 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:157667021C>T ENST00000368184.3 - 6 1044 c.753G>A c.(751-753)tgG>tgA p.W251* FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Nonsense_Mutation_p.W251* NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 251 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGTCTTCAGTCCACATGGCAG 0.537000 9 67 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2595291 2595291 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:2595291C>T ENST00000399655.1 + 6 1044 c.779C>T c.(778-780)tCc>tTc p.S260F CACNA1C_ENST00000399603.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S260F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S260F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S260F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S260F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S260F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S260F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 260 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTCCTGAATTCCATCATCAAG 0.562000 5 19 0 0 1 0 0 MIR520F 574464 broad.mit.edu 37 19 54185456 54185456 + RNA SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54185456G>T ENST00000384824.1 + 0 44 NR_030186.1 TCTGTGGTCAGAAAGAAAAGC 0.443000 11 49 4.68919e-08 4.73786e-08 1 1 0 TRIM32 22954 broad.mit.edu 37 9 119461141 119461141 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:119461141C>T ENST00000450136.1 + 2 1281 c.1120C>T c.(1120-1122)Cca>Tca p.P374S TRIM32_ENST00000373983.2_Missense_Mutation_p.P374S|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 374 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 GTTCAATCTTCCAGTCAGTCT 0.493000 18 59 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33744963 33744963 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33744963A>G ENST00000293760.5 - 7 1229 c.1210T>C c.(1210-1212)Tta>Cta p.L404L LEMD2_ENST00000508327.1_Silent_p.L102L|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 404 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TCCTCTTCTAACTTTCGCCAC 0.493000 17 232 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100331764 100331764 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:100331764G>A ENST00000341853.1 - 0 2427 NR_003260.1 ACAGGAGATAGAGGAGGACAT 0.627000 7 45 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768116 88768116 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:88768116C>T ENST00000444431.1 + 0 2716 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ACACAGTTTTCCACCGTGCAC 0.418000 8 62 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141734603 141734603 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141734603C>T ENST00000475668.2 + 16 1975 c.1921C>T c.(1921-1923)Cct>Tct p.P641S MGAM_ENST00000549489.2_Missense_Mutation_p.P641S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 641 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGTCCATCCCTGGCGTGCT 0.507000 4 42 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175402 55175402 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55175402C>T ENST00000391736.1 + 5 576 c.261C>T c.(259-261)tcC>tcT p.S87S LILRB4_ENST00000430952.2_Silent_p.S87S|LILRB4_ENST00000391733.3_Silent_p.S87S|LILRB4_ENST00000270452.2_Silent_p.S87S|LILRB4_ENST00000391734.3_Silent_p.S87S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 87 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCATCCCATCCATGACAGAGG 0.572000 19 228 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 123988454 123988454 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123988454G>A ENST00000456829.2 + 4 369 c.118G>A c.(118-120)Gag>Aag p.E40K VWA5A_ENST00000449321.1_Missense_Mutation_p.E40K|VWA5A_ENST00000392744.4_Missense_Mutation_p.E56K|VWA5A_ENST00000361352.5_Missense_Mutation_p.E40K|VWA5A_ENST00000360334.4_Missense_Mutation_p.E40K|VWA5A_ENST00000392748.1_Missense_Mutation_p.E40K NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 40 VIT. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TTTGAACTACGAGAATGAGGA 0.468000 4 72 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884104 36884104 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36884104G>A ENST00000392161.3 - 5 1380 c.1138C>T c.(1138-1140)Cat>Tat p.H380Y ZFP82_ENST00000392171.1_Missense_Mutation_p.H380Y NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGAATAAGATGATAACCACGG 0.393000 7 96 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754488 49754488 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:49754488T>A ENST00000304801.3 - 1 565 c.413A>T c.(412-414)aAg>aTg p.K138M NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 138 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TTTAATCTTCTTTCCAGAGGG 0.512000 6 95 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813592 24813592 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:24813592C>T ENST00000376451.2 + 8 2106 c.1846C>T c.(1846-1848)Ccg>Tcg p.P616S KIAA1217_ENST00000307544.6_Missense_Mutation_p.P616S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P898S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P898S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P933S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P616S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P616S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P853S Q5T5P2 SKT_HUMAN KIAA1217 933 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTCGCAGGCTCCGCAGTCCCC 0.582000 7 33 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42441990 42441990 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:42441990A>T ENST00000397272.3 - 11 1071 c.980T>A c.(979-981)tTt>tAt p.F327Y PLA2G4F_ENST00000382396.4_Missense_Mutation_p.F327Y NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 327 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCTGTCCAGAAACTCCTGCTC 0.617000 7 71 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141325 143141325 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143141325C>T ENST00000332690.1 + 1 780 c.780C>T c.(778-780)ttC>ttT p.F260F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 260 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTCATATTTCCTGTCACTGG 0.493000 5 136 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288615 74288615 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:74288615G>A ENST00000262765.5 - 4 1874 c.1695C>T c.(1693-1695)gtC>gtT p.V565V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 565 Gln-rich. protein binding p.V565V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTCCAGGTTGGACCAAACCAT 0.527000 6 47 0 0 1 0 0 TMEM259 91304 broad.mit.edu 37 19 1014276 1014276 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:1014276G>A ENST00000356663.3 - 2 543 c.422C>T c.(421-423)gCc>gTc p.A141V TMEM259_ENST00000333175.5_Missense_Mutation_p.A141V NM_001033026.1 NP_001028198.1 transmembrane protein 259 TGGTTCCACGGCCAGGCCCGG 0.637000 8 70 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242149960 242149960 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242149960C>T ENST00000274979.8 + 15 1801 c.1698C>T c.(1696-1698)tcC>tcT p.S566S ANO7_ENST00000402430.3_Silent_p.S565S NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 566 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 TCTATGTATCCCTGGCCCACG 0.632000 6 54 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457315 66457315 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:66457315C>T ENST00000533211.1 - 29 6241 c.5910G>A c.(5908-5910)ggG>ggA p.G1970G SPTBN2_ENST00000309996.2_Silent_p.G1970G|SPTBN2_ENST00000529997.1_Silent_p.G1970G O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1970 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCAGCTCCTTCCCCATGTCGA 0.617000 8 99 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88277458 88277458 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:88277458G>A ENST00000298767.5 - 2 841 c.369C>T c.(367-369)gtC>gtT p.V123V NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 123 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 TGTCTTCAACGACCACATGAC 0.413000 5 65 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29474962 29474962 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:29474962G>A ENST00000373795.4 - 6 1679 c.1445C>T c.(1444-1446)tCg>tTg p.S482L SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 482 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TCGGGAGGGCGATCTGGAAGC 0.493000 12 78 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24349530 24349530 + Missense_Mutation SNP C C T rs61757471 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:24349530C>T ENST00000175238.6 + 14 1554 c.1471C>T c.(1471-1473)Cct>Tct p.P491S ADAM7_ENST00000520720.1_Missense_Mutation_p.P263S|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P491S NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 491 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAATGGATTTCCTTGCAAGAA 0.478000 15 75 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132527047 132527047 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:132527047G>A ENST00000331898.7 - 2 913 c.335C>T c.(334-336)cCg>cTg p.P112L OPCML_ENST00000374778.4_Missense_Mutation_p.P71L|OPCML_ENST00000541867.1_Missense_Mutation_p.P112L|OPCML_ENST00000524381.1_Missense_Mutation_p.P105L|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 112 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity p.P112L(1) 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) GCAGGTGTACGGACCTTCGTC 0.502000 4 71 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42569530 42569530 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:42569530C>T ENST00000433647.1 + 7 1052 c.428C>T c.(427-429)tCc>tTc p.S143F VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.S136F|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Missense_Mutation_p.S184F NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 184 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CTCTTCATATCCTTCATCCTG 0.617000 18 107 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258596 16258596 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16258596C>T ENST00000375759.3 + 11 6065 c.5861C>T c.(5860-5862)cCa>cTa p.P1954L NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1954 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAAGGCCTCCAAAGACACGC 0.607000 12 69 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165353981 165353981 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:165353981G>A ENST00000263915.3 - 10 1662 c.1124C>T c.(1123-1125)tCc>tTc p.S375F GRB14_ENST00000543549.1_Missense_Mutation_p.S288F NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 375 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 TGCTACCAGGGAATTCTCTGA 0.363000 6 52 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722888 16722888 + RNA SNP C C T rs150302546 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:16722888C>T ENST00000417510.1 - 0 925 CCAGGTGCATCGTCCATCTCC 0.562000 7 103 0 0 1 0 0 OR51B4 79339 broad.mit.edu 37 11 5322760 5322760 + Missense_Mutation SNP C C T rs145655133 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5322760C>T ENST00000380224.1 - 1 466 c.417G>A c.(415-417)atG>atA p.M139I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCTATGTTCATCACTCGGG 0.453000 18 86 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113599416 113599416 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:113599416G>A ENST00000297405.5 - 23 4008 c.3764C>T c.(3763-3765)cCa>cTa p.P1255L CSMD3_ENST00000352409.3_Missense_Mutation_p.P1255L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1215L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1151L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1255 CUB 7. 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 TGGATAATTTGGAGACAGCAA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 62 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175351 143175351 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143175351G>A ENST00000408916.1 + 1 386 c.386G>A c.(385-387)tGg>tAg p.W129* EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 129 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TTCCCAGGGTGGGTGCCCTGG 0.483000 7 52 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619013 37619013 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:37619013C>T ENST00000337995.3 + 5 1335 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C ZNF420_ENST00000304239.7_Missense_Mutation_p.R374C|ZNF585A_ENST00000588723.1_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTATCCGTGGCTCACA 0.428000 10 97 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713472 222713472 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:222713472C>T ENST00000343410.6 - 4 1388 c.1330G>A c.(1330-1332)Gac>Aac p.D444N NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 444 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TGGCCCACGTCCCCACAGAAT 0.542000 7 68 0 0 1 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61405046 61405046 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:61405046G>A ENST00000496593.1 + 0 1650 NR_002775.2 CCCAGCTAAGGATGAAGCCAA 0.547000 6 31 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313571 233313571 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:233313571G>A ENST00000258229.8 - 17 3484 c.3250C>T c.(3250-3252)Ccc>Tcc p.P1084S PCNXL2_ENST00000488780.2_Missense_Mutation_p.P217S NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1084 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) ATCTTCTTGGGGAGAGGGTCA 0.443000 5 33 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814720 137814720 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:137814720G>A ENST00000409968.1 + 3 1048 c.870G>A c.(868-870)tcG>tcA p.S290S THSD7B_ENST00000413152.2_Silent_p.S259S|THSD7B_ENST00000272643.3_Silent_p.S290S|THSD7B_ENST00000543459.1_Silent_p.S149S thrombospondin, type I, domain containing 7B p.S259S(1)|p.S290S(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCATCATTCGAAGTCTTGGG 0.388000 7 50 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65871758 65871758 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:65871758C>T ENST00000321892.4 + 5 2012 c.1951C>T c.(1951-1953)Ccc>Tcc p.P651S BPTF_ENST00000335221.5_Missense_Mutation_p.P651S|BPTF_ENST00000424123.3_Missense_Mutation_p.P512S|BPTF_ENST00000306378.6_Intron Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 651 Interaction with KEAP1. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AGAGACTAGTCCCTCTGAAGG 0.517000 13 40 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152359376 152359376 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:152359376C>T ENST00000397345.3 - 167 24061 c.23859G>A c.(23857-23859)ggG>ggA p.G7953G NEB_ENST00000172853.10_Silent_p.G6252G|NEB_ENST00000409198.1_Silent_p.G6252G|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.G7953G|NEB_ENST00000509223.2_Intron|NEB_ENST00000427231.2_Silent_p.G7953G|NEB_ENST00000604864.1_Silent_p.G7953G|NEB_ENST00000397336.2_5'UTR NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6252 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGATTCCTTTCCCCAAATTTT 0.413000 3 21 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242149041 242149041 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242149041C>T ENST00000274979.8 + 13 1615 c.1512C>T c.(1510-1512)atC>atT p.I504I ANO7_ENST00000402430.3_Silent_p.I503I NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 504 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CTGTGGTGATCGTGGTGATGG 0.672000 5 49 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962814 117962814 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:117962814C>T ENST00000425217.1 - 14 2029 c.1975G>A c.(1975-1977)Gag>Aag p.E659K KSR2_ENST00000339824.5_Missense_Mutation_p.E688K|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.E385K NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 688 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGGCCACCTCGCCATGCCAG 0.597000 3 29 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399728 10399728 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10399728C>T ENST00000226207.5 - 34 4889 c.4795G>A c.(4795-4797)Gag>Aag p.E1599K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1599 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGCATGGACTCCACGATTCTA 0.443000 26 123 0 0 1 0 0 STK40 83931 broad.mit.edu 37 1 36807398 36807398 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:36807398G>A ENST00000373129.3 - 12 1672 c.1266C>T c.(1264-1266)tcC>tcT p.S422S STK40_ENST00000373132.3_Silent_p.S422S|STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373130.3_Silent_p.S427S NM_032017.1 NP_114406.1 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 422 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) CCGTGTCCAAGGAGGTCATGG 0.672000 14 99 0 0 1 0 0 IGKJ4 28947 broad.mit.edu 37 2 89160426 89160426 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:89160426G>A ENST00000452230.1 - 0 39 IGKJ4_ENST00000390239.2_RNA|AC096579.7_ENST00000430694.1_RNA TCCCTCCGCCGAAAGTGAGCC 0.418000 6 76 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043561 20043561 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20043561G>A ENST00000570682.1 - 2 858 c.558C>T c.(556-558)atC>atT p.I186I NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 186 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGAAGCAGTGGATCCAGATGA 0.507000 5 49 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72184056 72184056 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:72184056C>T ENST00000340726.3 - 10 1542 c.903G>A c.(901-903)ggG>ggA p.G301G EYA1_ENST00000388740.3_Silent_p.G268G|EYA1_ENST00000303824.7_Silent_p.G295G|EYA1_ENST00000388741.2_Silent_p.G267G|EYA1_ENST00000388743.2_Silent_p.G300G|EYA1_ENST00000419131.1_Silent_p.G296G|EYA1_ENST00000388742.4_Silent_p.G301G NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 301 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CACGTGATTTCCCATCTGAAC 0.468000 18 168 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182554563 182554563 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:182554563A>G ENST00000367559.3 - 2 1632 c.1379T>C c.(1378-1380)tTt>tCt p.F460S RNASEL_ENST00000539397.1_Missense_Mutation_p.F460S|RNASEL_ENST00000444138.1_Missense_Mutation_p.F460S NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 460 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 ATTTCGGGCAAATTCATCTTC 0.458000 4 55 0 0 1 0 0 PARVA 55742 broad.mit.edu 37 11 12518125 12518125 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:12518125G>T ENST00000334956.8 + 5 984 c.641G>T c.(640-642)aGc>aTc p.S214I PARVA_ENST00000538608.1_Missense_Mutation_p.S121I|PARVA_ENST00000550549.1_Missense_Mutation_p.S174I|PARVA_ENST00000539723.1_Missense_Mutation_p.S174I NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 174 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) CCTCCCAGGAGCATCAAGTGG 0.493000 3 17 0.00909568 0.00912245 1 1 0 ESPL1 9700 broad.mit.edu 37 12 53673625 53673625 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53673625C>T ENST00000257934.4 + 12 2565 c.2474C>T c.(2473-2475)aCc>aTc p.T825I ESPL1_ENST00000552462.1_Missense_Mutation_p.T825I NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 825 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CTCCTCCTGACCCTCGGCTGT 0.622000 12 100 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458370 248458370 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248458370C>T ENST00000317996.1 - 1 510 c.511G>A c.(511-513)Gag>Aag p.E171K NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E171K(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGATCGATCTCGTGTGCACCG 0.562000 15 76 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53889421 53889421 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:53889421C>T ENST00000396328.1 - 18 3242 c.3003G>A c.(3001-3003)atG>atA p.M1001I WDR72_ENST00000557913.1_Missense_Mutation_p.M998I|WDR72_ENST00000360509.5_Missense_Mutation_p.M1001I|WDR72_ENST00000559418.1_Missense_Mutation_p.M1011I NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1001 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CCAAACTCTTCATGTGTTGTT 0.393000 23 125 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101834 82101834 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:82101834G>A ENST00000199936.4 + 2 518 c.325G>A c.(325-327)Gta>Ata p.V109I RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 109 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GGGCTTCACGGTATTTGCCGG 0.547000 6 39 0 0 1 0 0 ZNF135 7694 broad.mit.edu 37 19 58579641 58579641 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:58579641G>A ENST00000506786.1 + 5 2217 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.E597K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E597K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E609K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E621K B4DHH9 B4DHH9_HUMAN zinc finger protein 135 609 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CAGCCAGCACGAAAGGACGCA 0.552000 5 90 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46766267 46766267 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:46766267C>T ENST00000394809.4 - 4 1430 c.1315G>A c.(1315-1317)Gag>Aag p.E439K MYLK3_ENST00000536476.1_Missense_Mutation_p.E98K NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 439 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCCCCAACCTCGTGGTCATTG 0.672000 27 115 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973661 10973661 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:10973661G>A ENST00000304623.8 - 22 3771 c.3582C>T c.(3580-3582)acC>acT p.T1194T CTNND2_ENST00000511377.1_Silent_p.T1103T|CTNND2_ENST00000458100.2_Silent_p.T761T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.T1136T|CTNND2_ENST00000503622.1_Silent_p.T857T NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1194 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CGTAGTTGCCGGTGGACTTGA 0.567000 19 73 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579407 49579407 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:49579407G>A ENST00000301071.7 - 4 1086 c.742C>T c.(742-744)Ctg>Ttg p.L248L TUBA1A_ENST00000295766.5_Silent_p.L248L|TUBA1A_ENST00000546918.1_3'UTR|TUBA1A_ENST00000550767.1_Silent_p.L213L NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 248 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 TCAACATTCAGGGCTCCATCA 0.488000 12 82 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841798 8841798 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8841798G>A ENST00000324060.2 + 1 483 c.408G>A c.(406-408)atG>atA p.M136I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGTACTTATGAGACGCCAGG 0.552000 12 84 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878443 5878443 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5878443G>A ENST00000537935.1 - 1 521 c.490C>T c.(490-492)Cca>Tca p.P164S TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACACCAGTGGAACAACCATG 0.522000 6 131 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327067 16327067 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:16327067A>T ENST00000244769.4 - 8 2411 c.1475T>A c.(1474-1476)aTc>aAc p.I492N ATXN1_ENST00000436367.1_Missense_Mutation_p.I492N NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 492 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GCCGACCGGGATGAGCAGGGG 0.667000 37 214 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209308124 209308124 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:209308124C>T ENST00000272847.2 + 6 774 c.561C>T c.(559-561)ttC>ttT p.F187F PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 187 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TTGTGTCTTTCATGCTGAGAG 0.383000 11 49 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89421777 89421777 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:89421777G>A ENST00000532352.1 + 0 1447 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATCTGGAAATGATTTTGAGGT 0.318000 12 79 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835116 172835116 + Missense_Mutation SNP G G A rs144595913 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:172835116G>A ENST00000351008.3 - 2 589 c.406C>T c.(406-408)Cgc>Tgc p.R136C NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 136 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AACTCATAGCGAACACCCATT 0.418000 9 82 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131219668 131219668 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:131219668C>T ENST00000298542.4 - 7 761 c.586G>A c.(586-588)Gat>Aat p.D196N FRMD7_ENST00000464296.1_Missense_Mutation_p.D181N|FRMD7_ENST00000370879.1_Missense_Mutation_p.D76N NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 196 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCTTCACCATCACTGGCGGGG 0.512000 28 78 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75938063 75938063 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:75938063C>A ENST00000307428.7 + 2 684 c.472C>A c.(472-474)Ccc>Acc p.P158T PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 158 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 AGCCTCATCACCCTCATCCCT 0.587000 37 156 1.47244e-24 1.49184e-24 1 1 0 ATP1A3 478 broad.mit.edu 37 19 42474436 42474436 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42474436C>T ENST00000545399.1 - 18 2635 c.2482G>A c.(2482-2484)Gag>Aag p.E828K ATP1A3_ENST00000602133.1_Missense_Mutation_p.E785K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E826K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E815K NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 815 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TCGGCAGCCTCGTACGCCAGT 0.637000 7 33 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672621 141672621 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141672621G>A ENST00000547270.1 - 1 952 c.869C>T c.(868-870)cCc>cTc p.P290L NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 290 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) ATGCCCAGAGGGACAAGCTGC 0.532000 4 53 0 0 1 0 0 KIAA1737 85457 broad.mit.edu 37 14 77580598 77580598 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:77580598A>T ENST00000361786.2 + 4 1454 c.1137A>T c.(1135-1137)ttA>ttT p.L379F RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 K1737_HUMAN KIAA1737 379 endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) AGGCATCTTTAACACCTGGGT 0.498000 15 47 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528900 20528900 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20528900C>T ENST00000315683.1 + 1 697 c.697C>T c.(697-699)Ctc>Ttc p.L233F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATCACATGGGCTCTCCAAGGC 0.453000 9 81 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38805727 38805727 + Missense_Mutation SNP G G A rs151175737 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38805727G>A ENST00000359357.3 + 31 3978 c.3724G>A c.(3724-3726)Gat>Aat p.D1242N DNAH8_ENST00000441566.1_Missense_Mutation_p.D1242N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1459N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGCCAGTTTCGATGATCTGTG 0.323000 4 41 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107257 14107257 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:14107257C>T ENST00000235372.7 + 8 3823 c.2967C>T c.(2965-2967)ctC>ctT p.L989L PRDM2_ENST00000311066.5_Silent_p.L989L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L788L|PRDM2_ENST00000343137.4_Silent_p.L788L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 989 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CCCCTCCCCTCCTTCCTACCG 0.597000 5 121 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304077 115304077 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:115304077C>T ENST00000371906.4 + 3 734 c.544C>T c.(544-546)Cga>Tga p.R182* NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 182 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ATTTTATTTTCGAGACGTCAG 0.428000 29 93 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100226930 100226930 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:100226930G>A ENST00000524871.1 + 25 3572 c.3282G>A c.(3280-3282)atG>atA p.M1094I CNTN5_ENST00000418526.2_Missense_Mutation_p.M1020I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M1094I|CNTN5_ENST00000528682.1_Missense_Mutation_p.M1094I|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 1094 M -> V (in dbSNP:rs35208161). 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) TGGCATTGATGATTCCTTCAA 0.428000 4 12 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347399 71347399 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:71347399C>T ENST00000413702.1 + 4 1226 c.938C>T c.(937-939)tCt>tTt p.S313F MUC7_ENST00000456088.1_Missense_Mutation_p.S313F|MUC7_ENST00000304887.5_Missense_Mutation_p.S313F NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 313 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACACCTAATTCTTCCCCAACT 0.512000 21 118 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43565573 43565573 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43565573C>T ENST00000372236.4 + 5 926 c.631C>T c.(631-633)Cag>Tag p.Q211* POLH_ENST00000535400.1_Nonsense_Mutation_p.Q149*|POLH_ENST00000372226.1_Nonsense_Mutation_p.Q211* NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 211 UmuC. DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GACTGGTTTTCAGTGTTCAGC 0.448000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 4 109 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64529494 64529494 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:64529494A>G ENST00000358025.3 + 50 10323 c.10093A>G c.(10093-10095)Aga>Gga p.R3365G SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3365G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3398G NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3365 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAAATGCTATAGAAAAATGGA 0.333000 3 27 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669559 53669559 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53669559C>T ENST00000396424.3 - 4 273 c.184G>A c.(184-186)Ggg>Agg p.G62R ZNF665_ENST00000600412.1_5'UTR NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TTGTTCTTCCCCTTTGGTGGC 0.383000 15 244 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62518864 62518864 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:62518864G>A ENST00000556440.2 + 8 1270 c.760G>A c.(760-762)Ggg>Agg p.G254R CEP95_ENST00000553412.1_Missense_Mutation_p.G90R NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 254 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 TAGGAAGCTAGGGGAGCCTAT 0.443000 13 57 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134112 128134112 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128134112C>T ENST00000368250.1 - 5 1935 c.1437G>A c.(1435-1437)ccG>ccA p.P479P THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P Q8N1K5 THMS1_HUMAN thymocyte selection associated 558 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGGGGTGTTTCGGAGGGCGAG 0.483000 8 110 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558451 140558451 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140558451C>T ENST00000239444.2 + 1 1081 c.836C>T c.(835-837)tCc>tTc p.S279F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 279 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S279F(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGATTTCCTATTCACTT 0.413000 12 105 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96581895 96581895 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:96581895A>G ENST00000456556.1 - 37 2456 c.2372T>C c.(2371-2373)tTg>tCg p.L791S ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CATTACCTTCAAGGCTGGTTT 0.343000 5 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434129 179434129 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179434129C>T ENST00000589042.1 - 326 76954 c.76730G>A c.(76729-76731)gGa>gAa p.G25577E TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16512E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G16637E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23936E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16704E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23009E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23936 Fibronectin type-III 86. 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) CGTATATTTTCCACTATCATA 0.428000 12 65 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404087 197404087 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197404087G>A ENST00000367397.1 + 5 2095 c.1237G>A c.(1237-1239)Ggc>Agc p.G413S CRB1_ENST00000535699.1_Missense_Mutation_p.G1008S|CRB1_ENST00000367400.3_Missense_Mutation_p.G1032S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G513S|CRB1_ENST00000367399.2_Missense_Mutation_p.G920S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1032 EGF-like 10; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGAATGATGGCACATGGCA 0.438000 7 74 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87053293 87053293 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87053293C>T ENST00000265723.4 - 17 2251 c.2140G>A c.(2140-2142)Gga>Aga p.G714R ABCB4_ENST00000545634.1_Missense_Mutation_p.G714R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G714R|ABCB4_ENST00000359206.3_Missense_Mutation_p.G714R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G714R NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 714 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.G714R(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CATACTGTTCCCACGACAAAG 0.453000 15 115 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132554083 132554083 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:132554083T>C ENST00000333577.4 + 52 9135 c.9026T>C c.(9025-9027)gTt>gCt p.V3009A EP400_ENST00000389561.2_Missense_Mutation_p.V2973A|EP400_ENST00000389562.2_Missense_Mutation_p.V2972A|EP400_ENST00000332482.4_Missense_Mutation_p.V2936A|EP400_ENST00000330386.6_Missense_Mutation_p.V2892A Q96L91 EP400_HUMAN E1A binding protein p400 3009 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAGCAGAAGGTTGCCTACGCC 0.637000 28 108 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170783981 170783981 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:170783981C>T ENST00000436636.2 - 32 4338 c.3994G>A c.(3994-3996)Gat>Aat p.D1332N TNIK_ENST00000538048.1_Missense_Mutation_p.D1284N|TNIK_ENST00000369326.5_Missense_Mutation_p.D1310N|TNIK_ENST00000341852.6_Missense_Mutation_p.D1248N|TNIK_ENST00000488470.1_Missense_Mutation_p.D1277N|TNIK_ENST00000284483.8_Missense_Mutation_p.D1324N|TNIK_ENST00000475336.1_Missense_Mutation_p.D1240N|TNIK_ENST00000470834.1_Missense_Mutation_p.D1295N|TNIK_ENST00000460047.1_Missense_Mutation_p.D1269N|TNIK_ENST00000357327.5_Missense_Mutation_p.D1303N NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 1332 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTTACCTTATCATTTCTTTCA 0.368000 11 66 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102781284 102781284 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:102781284G>A ENST00000410023.1 + 4 430 c.112G>A c.(112-114)Gaa>Aaa p.E38K IL1R1_ENST00000409329.1_Missense_Mutation_p.E38K|IL1R1_ENST00000233946.3_Missense_Mutation_p.E38K|IL1R1_ENST00000409589.1_Missense_Mutation_p.E38K|IL1R1_ENST00000424272.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409929.1_Missense_Mutation_p.E38K|IL1R1_ENST00000409288.1_Missense_Mutation_p.E38K P14778 IL1R1_HUMAN interleukin 1 receptor, type I 38 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) ATCTGCAAATGAAATTGATGT 0.363000 4 48 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833639 168833639 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:168833639C>T ENST00000464456.1 - 7 2657 c.1457G>A c.(1456-1458)gGt>gAt p.G486D MECOM_ENST00000494292.1_Missense_Mutation_p.G674D|MECOM_ENST00000460814.1_Missense_Mutation_p.G486D|MECOM_ENST00000392736.3_Missense_Mutation_p.G486D|MECOM_ENST00000264674.3_Missense_Mutation_p.G551D|MECOM_ENST00000472280.1_Missense_Mutation_p.G487D|MECOM_ENST00000468789.1_Missense_Mutation_p.G486D|MECOM_ENST00000433243.2_Missense_Mutation_p.G487D NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCCTGTTGAACCAAAGTATTT 0.428000 19 94 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12776226 12776226 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:12776226G>A ENST00000456935.2 - 3 416 c.376C>T c.(376-378)Cgt>Tgt p.R126C MAN2B1_ENST00000221363.4_Missense_Mutation_p.R126C|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R123C NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 126 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGCCACCAACGGGAGAAGAAG 0.587000 16 118 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33475395 33475395 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:33475395G>A ENST00000265371.4 - 15 2609 c.2084C>T c.(2083-2085)tCc>tTc p.S695F NRP1_ENST00000374867.2_Missense_Mutation_p.S695F|NRP1_ENST00000395995.1_Missense_Mutation_p.S695F O14786 NRP1_HUMAN neuropilin 1 695 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) GTCAGCTTGGGAATAGATGAA 0.478000 9 87 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606699 21606699 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:21606699C>T ENST00000392288.2 + 4 1347 c.1238C>T c.(1237-1239)gCt>gTt p.A413V CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.A285V NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TGTGGCAAAGCTTATAAGGAG 0.363000 4 46 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894405 123894405 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123894405C>T ENST00000375024.1 + 1 686 c.686C>T c.(685-687)aCc>aTc p.T229I NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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;0.0399) CGGATCCACACCTCAGAGGGG 0.527000 5 78 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63137784 63137784 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63137784G>A ENST00000279178.3 + 1 505 c.256G>A c.(256-258)Gag>Aag p.E86K SLC22A9_ENST00000310969.4_Missense_Mutation_p.E86K NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 86 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CATGAGGCCAGAGAAGTGTCG 0.537000 6 82 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72610103 72610103 + Missense_Mutation SNP C C T rs147195509 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72610103C>T ENST00000392619.1 - 3 574 c.539G>A c.(538-540)cGa>cAa p.R180Q CD300E_ENST00000426295.2_Missense_Mutation_p.R194Q|CD300E_ENST00000328630.3_Missense_Mutation_p.R153Q NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 153 integral to membrane|plasma membrane receptor activity p.R153Q(1) breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GCTGAGGTTTCGCCCAGGGTT 0.587000 7 20 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82582810 82582810 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82582810G>A ENST00000423517.2 - 5 7796 c.7459C>T c.(7459-7461)Cct>Tct p.P2487S PCLO_ENST00000333891.8_Missense_Mutation_p.P2487S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2418 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTAGGAGGAACAGGAGGA 0.468000 6 62 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228128547 228128547 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228128547G>A ENST00000396578.3 + 21 1364 c.1202G>A c.(1201-1203)gGa>gAa p.G401E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 401 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGCCTGAAAGGAAGTAAAGGG 0.522000 7 36 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110149038 110149038 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:110149038C>T ENST00000351050.3 - 5 668 c.482G>A c.(481-483)cGa>cAa p.R161Q NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 161 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity p.R161Q(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) GTCTGTAATTCGTTCTAATTG 0.433000 16 83 0 0 1 0 0 KLK6 5653 broad.mit.edu 37 19 51462492 51462492 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51462492C>A ENST00000376851.3 - 6 1102 c.663G>T c.(661-663)aaG>aaT p.K221N KLK6_ENST00000594641.1_Missense_Mutation_p.K221N|KLK6_ENST00000456750.2_Missense_Mutation_p.K114N|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R93M|KLK6_ENST00000310157.2_Missense_Mutation_p.K221N|KLK6_ENST00000391808.1_Missense_Mutation_p.K114N NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 221 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity p.K221K(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) CTGGCTTCTCCTTTGATCCAC 0.537000 11 94 9.70103e-10 9.80795e-10 1 1 0 NLRP8 126205 broad.mit.edu 37 19 56466719 56466719 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56466719C>T ENST00000291971.3 + 3 1366 c.1295C>T c.(1294-1296)tCt>tTt p.S432F NLRP8_ENST00000590542.1_Missense_Mutation_p.S432F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 432 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGGTATATTTCTAGCTTGTTT 0.498000 9 78 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31975337 31975337 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31975337A>C ENST00000357886.4 - 6 700 c.547T>G c.(547-549)Tgc>Ggc p.C183G CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.C183G|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.C93G Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 183 MTTase N-terminal. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TCAGCCATGCAGCCTGGAAGG 0.488000 13 80 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188432 7188432 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7188432C>T ENST00000542285.1 - 11 1515 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K P00736 C1R_HUMAN complement component 1, r subcomponent 508 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTTCGTGTTCCTTGGGATAC 0.612000 11 35 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33026409 33026409 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:33026409C>T ENST00000374864.4 + 8 865 c.652C>T c.(652-654)Cca>Tca p.P218S ITCH_ENST00000535650.1_Missense_Mutation_p.P108S|ITCH_ENST00000262650.6_Missense_Mutation_p.P259S NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 259 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 ACCTTCACGACCACCACCACC 0.463000 15 86 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021659 51021659 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51021659C>T ENST00000599957.1 - 3 1508 c.1311G>A c.(1309-1311)atG>atA p.M437I LRRC4B_ENST00000389201.3_Missense_Mutation_p.M437I Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 437 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGTTCGTCACCATGCACGTGT 0.701000 18 56 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62125254 62125254 + Silent SNP G G A rs61745997 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:62125254G>A ENST00000433197.2 - 19 2588 c.2493C>T c.(2491-2493)ttC>ttT p.F831F NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 831 Protein kinase. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGCTCCAGAAGAACGGGTGTT 0.433000 12 48 0 0 1 0 0 C21orf58 54058 broad.mit.edu 37 21 47731394 47731394 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:47731394G>A ENST00000291691.7 - 6 1833 c.697C>T c.(697-699)Caa>Taa p.Q233* C21orf58_ENST00000397680.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397679.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397682.3_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000397683.1_Nonsense_Mutation_p.Q127*|C21orf58_ENST00000472607.1_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 233 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) CCTGACCGTTGAGTAGGGAAG 0.498000 3 13 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069907 63069907 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63069907C>T ENST00000332793.6 + 7 1179 c.1177C>T c.(1177-1179)Cga>Tga p.R393* SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 393 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCTCATAGTTCGATGTCTTGC 0.433000 17 54 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44351606 44351606 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44351606C>T ENST00000324461.7 + 7 1150 c.853C>T c.(853-855)Cac>Tac p.H285Y ZNF283_ENST00000588797.1_Missense_Mutation_p.H146Y NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGAGAGAATTCACACTGGTGA 0.423000 5 41 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43111200 43111200 + Missense_Mutation SNP C C T rs148120569 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43111200C>T ENST00000230419.4 + 14 2314 c.2093C>T c.(2092-2094)cCc>cTc p.P698L PTK7_ENST00000345201.2_Missense_Mutation_p.P658L|PTK7_ENST00000481273.1_Missense_Mutation_p.P706L|PTK7_ENST00000352931.2_Missense_Mutation_p.P642L|PTK7_ENST00000349241.2_Missense_Mutation_p.P568L NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 698 actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGCCCTCCCCCCTACAAGATG 0.602000 OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 75 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41012731 41012731 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:41012731C>T ENST00000399564.4 - 30 3539 c.3089G>A c.(3088-3090)tGg>tAg p.W1030* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.W585* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGTGATCATCCATATGCCACA 0.453000 13 46 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944314 55944314 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55944314C>T ENST00000312298.1 + 1 221 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GCCTGCTATTCATCTGCAATT 0.443000 15 117 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83411176 83411176 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:83411176G>A ENST00000262752.2 - 3 172 c.165C>T c.(163-165)atC>atT p.I55I RPS6KA6_ENST00000543399.1_Silent_p.I55I NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 55 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GAGTAATAGGGATTTCTTTAA 0.363000 4 6 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408224 2408224 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:2408224G>A ENST00000381223.4 - 2 740 c.537C>T c.(535-537)gcC>gcT p.A179A ZBED1_ENST00000381218.3_Silent_p.A179A|ZBED1_ENST00000381222.2_Silent_p.A179A|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 179 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity p.A179A(1) endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCTCCCGGACGGCCCCGTACT 0.627000 28 155 0 0 1 0 0 VWA1 64856 broad.mit.edu 37 1 1374462 1374462 + Splice_Site SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:1374462C>G ENST00000476993.1 + 3 711 c.631_splice c.e3-1 p.D211_splice VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_5'UTR NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 211 Fibronectin type-III 1.|VWFA. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CACCCACAGACGCGATGCGGC 0.677000 6 30 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919180 142919180 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142919180G>A ENST00000595842.1 - 1 180 c.181C>T c.(181-183)Cgt>Tgt p.R61C TAS2R40_ENST00000408947.3_Silent_p.T3T GAATGGCAACGGTGAACACAG 0.468000 5 89 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95575786 95575786 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:95575786C>T ENST00000317968.4 + 10 1595 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L365F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L516F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L378F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 487 LIM zinc-binding 2. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) AAGGAAGATCCTTGGAGTAAG 0.353000 7 75 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103431072 103431072 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:103431072G>A ENST00000358392.2 - 38 3240 c.2923C>T c.(2923-2925)Cct>Tct p.P975S COL11A1_ENST00000370096.3_Missense_Mutation_p.P963S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P847S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P924S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 963 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCTGGCCCAGGAGGGCCGGTC 0.393000 17 125 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532010 84532010 + RNA SNP T T C rs515305 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:84532010T>C ENST00000527857.1 + 0 2032 NR_026851.1 TCAGAAAGTCTTTCAAGGTCC 0.458000 6 42 0 0 1 0 0 NSUN5 55695 broad.mit.edu 37 7 72717689 72717689 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:72717689G>A ENST00000428206.1 - 9 1093 c.1080C>T c.(1078-1080)ttC>ttT p.F360F NSUN5_ENST00000252594.6_Silent_p.F398F|NSUN5_ENST00000438747.2_Silent_p.F398F|NSUN5_ENST00000310326.8_Silent_p.F398F NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 398 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) CGGCACCCGGGAACGTGCTCA 0.647000 5 30 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327786 67327786 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:67327786G>A ENST00000304372.5 - 12 1934 c.1879C>T c.(1879-1881)Cct>Tct p.P627S NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 627 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GTGGCGGGAGGGTCTTTGGTT 0.527000 12 127 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64434839 64434839 + Missense_Mutation SNP C C T rs139806166 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:64434839C>T ENST00000265459.6 - 9 2142 c.1681G>A c.(1681-1683)Ggc>Agc p.G561S NRXN2_ENST00000409571.1_Missense_Mutation_p.G554S|NRXN2_ENST00000377551.1_Missense_Mutation_p.G561S|NRXN2_ENST00000377559.3_Missense_Mutation_p.G530S NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 561 Laminin G-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TAGAGGTGGCCGTCCAATAGC 0.632000 29 111 0 0 1 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967373 106967373 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:106967373G>A ENST00000390622.2 - 0 350 GGACACAGTAGAGAATGACAG 0.567000 10 56 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68696535 68696535 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:68696535G>A ENST00000303145.7 - 12 1923 c.1837C>T c.(1837-1839)Ctt>Ttt p.L613F MDM1_ENST00000411698.2_Missense_Mutation_p.L578F|MDM1_ENST00000540418.1_Missense_Mutation_p.L333F NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 613 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) GAAACTGGAAGAGTTGCCTCA 0.453000 7 97 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781738 128781738 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:128781738C>T ENST00000529694.1 + 2 946 c.570C>T c.(568-570)atC>atT p.I190I KCNJ5_ENST00000338350.4_Silent_p.I190I|KCNJ5_ENST00000533599.1_Silent_p.I190I NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 190 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TTGTCAAGATCAGCCAGCCCA 0.557000 20 102 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179514562 179514562 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179514562C>T ENST00000589042.1 - 211 40101 c.39877G>A c.(39877-39879)Gaa>Aaa p.E13293K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11786K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10859K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11642 Ig-like 88. 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) GGCGGTGCTTCTGGTTTTTTG 0.348000 6 84 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 130005589 130005589 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:130005589C>T ENST00000263574.5 + 13 1888 c.1816C>T c.(1816-1818)Cca>Tca p.P606S APLP2_ENST00000338167.5_Missense_Mutation_p.P606S|APLP2_ENST00000278756.7_Missense_Mutation_p.P616S|APLP2_ENST00000543137.1_Missense_Mutation_p.P513S|APLP2_ENST00000539648.1_Missense_Mutation_p.P394S|APLP2_ENST00000345598.5_Missense_Mutation_p.P377S|APLP2_ENST00000528499.1_Missense_Mutation_p.P550S NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 606 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CCACCCCTTCCCAGCCCTACC 0.567000 4 60 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000804 142000804 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142000804C>T ENST00000455382.2 + 0 58 AGGCCTCATTCCTGCTGTGAT 0.512000 4 40 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24784106 24784106 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:24784106G>A ENST00000376451.2 + 3 1124 c.864G>A c.(862-864)agG>agA p.R288R KIAA1217_ENST00000307544.6_Silent_p.R288R|KIAA1217_ENST00000376452.3_Silent_p.R570R|KIAA1217_ENST00000458595.1_Silent_p.R570R|KIAA1217_ENST00000376454.3_Silent_p.R605R|KIAA1217_ENST00000430453.2_Silent_p.R491R|KIAA1217_ENST00000396445.1_Silent_p.R288R|KIAA1217_ENST00000396446.1_Silent_p.R288R|KIAA1217_ENST00000376462.1_Silent_p.R525R Q5T5P2 SKT_HUMAN KIAA1217 605 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAGCCAACAGGAACCACACAG 0.423000 12 63 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024407 76024407 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:76024407C>T ENST00000393004.2 - 5 1362 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K FILIP1_ENST00000370020.1_Missense_Mutation_p.E282K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E381K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 381 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CGAAGATTTTCCACTTCTGCC 0.418000 14 113 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170448 58170448 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58170448G>A ENST00000309403.2 - 1 434 c.435C>T c.(433-435)ggC>ggT p.G145G NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGAGGTAGGAGCCTATGGCCA 0.483000 11 86 0 0 1 0 0 LSP1 4046 broad.mit.edu 37 11 1904668 1904668 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1904668G>A ENST00000406638.2 + 4 1492 c.190G>A c.(190-192)Gaa>Aaa p.E64K LSP1_ENST00000405957.2_Missense_Mutation_p.E64K|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.E126K|LSP1_ENST00000381775.1_Missense_Mutation_p.E254K NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 126 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity p.E64K(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) GCATGCCTACGAAAAGGAGGA 0.592000 5 44 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13260476 13260476 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:13260476C>T ENST00000262487.3 + 3 580 c.574C>T c.(574-576)Ccc>Tcc p.P192S TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 192 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CTTCCTCAACCCCCCCAGGGG 0.557000 9 54 0 0 1 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784574 30784574 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30784574A>G ENST00000246229.4 - 3 1436 c.1172T>C c.(1171-1173)cTa>cCa p.L391P NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 391 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGCTTCATCTAGGAGGGCCGC 0.612000 5 32 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82475933 82475933 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82475933G>A ENST00000423517.2 - 12 14118 c.13781C>T c.(13780-13782)tCa>tTa p.S4594L PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4594L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4482 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCAGAATCTGATAGCATATT 0.323000 3 7 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212570074 212570074 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:212570074C>T ENST00000342788.4 - 10 1477 c.1167G>A c.(1165-1167)ctG>ctA p.L389L ERBB4_ENST00000402597.1_Silent_p.L389L|ERBB4_ENST00000436443.1_Silent_p.L389L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 389 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAAAGACGTTCAGTTTCTCTG 0.323000 TSP Lung(8;0.080) 7 86 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470978 120470978 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:120470978C>T ENST00000355622.6 + 2 332 c.231C>T c.(229-231)ttC>ttT p.F77F TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.F37F NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 77 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TCTTCAGTTTCCCAGAACTGC 0.448000 24 109 0 0 1 0 0 LOC101929950 101929950 broad.mit.edu 37 17 36358858 36358858 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36358858C>T ENST00000312412.4 - 6 832 c.833G>A c.(832-834)gGa>gAa p.G278E RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.G123E kidney(1)|lung(3) 4 TGCAAATTTTCCTTGTTCTGC 0.398000 12 255 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502478 20502478 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20502478G>A ENST00000315693.2 - 1 441 c.440C>T c.(439-441)tCc>tTc p.S147F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S147F(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGCATAGGAGGATAACAGTAG 0.463000 26 100 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3322174 3322174 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:3322174A>C ENST00000378398.3 + 9 1233 c.1151A>C c.(1150-1152)cAg>cCg p.Q384P PRDM16_ENST00000442529.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000441472.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000270722.5_Missense_Mutation_p.Q383P|PRDM16_ENST00000514189.1_Missense_Mutation_p.Q384P|PRDM16_ENST00000511072.1_Missense_Mutation_p.Q384P|PRDM16_ENST00000378391.2_Missense_Mutation_p.Q383P|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 383 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGCCTCAAGCAGCACAAGCAT 0.687000 T EVI1 """MDS, AML""" 24 83 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876469 35876469 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:35876469C>T ENST00000303115.3 + 8 1390 c.1261C>T c.(1261-1263)Ctc>Ttc p.L421F IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 421 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCCATTTTCTCTCCAATCTGG 0.517000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 10 38 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31763353 31763353 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31763353C>T ENST00000253362.2 + 5 697 c.551C>T c.(550-552)tCc>tTc p.S184F BPIFA2_ENST00000354932.5_Missense_Mutation_p.S184F Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 184 extracellular region lipid binding ATCTCACTTTCCTTGCTGGAC 0.532000 5 91 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148055079 148055079 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:148055079G>A ENST00000370460.2 + 16 3825 c.3346G>A c.(3346-3348)Gac>Aac p.D1116N AFF2_ENST00000286437.5_Missense_Mutation_p.D757N|AFF2_ENST00000342251.3_Missense_Mutation_p.D1083N|AFF2_ENST00000370457.5_Missense_Mutation_p.D1081N NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1116 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CATGGAACGCGACCCTCTGGA 0.483000 16 37 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45216730 45216730 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:45216730G>A ENST00000279027.4 - 8 1107 c.1089C>T c.(1087-1089)ttC>ttT p.F363F SLC13A3_ENST00000413164.2_Silent_p.F313F|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000290317.5_Silent_p.F316F|SLC13A3_ENST00000495082.1_Silent_p.F316F|SLC13A3_ENST00000372121.1_Silent_p.F313F|SLC13A3_ENST00000472148.1_Intron NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 363 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) AGCCAGGGATGAACTTCGGGT 0.587000 10 44 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21818690 21818690 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21818690G>A ENST00000328843.6 + 58 9503 c.9472G>A c.(9472-9474)Gaa>Aaa p.E3158K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3151K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3158 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGTGAGCCGGGAAAAGACCAT 0.483000 Kartagener syndrome 5 28 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616639 77616639 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77616639C>T ENST00000521891.2 + 2 764 c.316C>T c.(316-318)Cct>Tct p.P106S ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P106S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P106S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P106S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 106 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCCCGCCTTCCTGTCCTGAA 0.502000 HNSCC(33;0.089) 17 136 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50731657 50731657 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:50731657G>A ENST00000442544.2 + 10 2261 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K DCC_ENST00000412726.1_Missense_Mutation_p.E397K|DCC_ENST00000581580.1_Missense_Mutation_p.E204K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 549 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TATTACCTGGGAACCCCCTGC 0.448000 23 199 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117075079 117075079 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:117075079G>A ENST00000303745.7 + 0 123 ATRNL1_ENST00000355044.3_Missense_Mutation_p.G957E|ATRNL1_ENST00000423111.2_Missense_Mutation_p.G54E Q5VV63 ATRN1_HUMAN attractin-like 1 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GAACAGCCTGGATGTGGCTGG 0.428000 11 46 0 0 1 0 0 SEMA4F 10505 broad.mit.edu 37 2 74884979 74884979 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:74884979G>A ENST00000357877.2 + 4 506 c.e4-1 SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 CTGACCCCCAGGACGAATGTC 0.498000 8 98 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42154391 42154391 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:42154391C>T ENST00000401548.3 + 18 2014 c.1974C>T c.(1972-1974)ctC>ctT p.L658L MEI1_ENST00000540833.1_Silent_p.L398L|MEI1_ENST00000400107.1_Silent_p.L26L|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 658 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGTCTGAGCTCCTGCAGCATG 0.522000 4 39 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483635 59483635 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:59483635G>A ENST00000312828.3 - 2 1161 c.62C>T c.(61-63)cCc>cTc p.P21L NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 21 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CCTGCGCCGGGGGCTGTAGTA 0.597000 18 83 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75505560 75505560 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:75505560G>A ENST00000502798.2 + 4 1203 c.e4-1 SV2C_ENST00000322285.7_Splice_Site NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCTCTTGGCAGGATTGGAGGA 0.517000 8 73 0 0 1 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118203962 118203962 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:118203962C>T ENST00000369230.3 + 4 539 c.393C>T c.(391-393)atC>atT p.I131I NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 131 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) GGGAATACATCCATGCTGTAA 0.318000 14 64 0 0 1 0 0 DENND1B 163486 broad.mit.edu 37 1 197627492 197627492 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197627492G>A ENST00000235453.4 - 7 551 c.274C>T c.(274-276)Ccc>Tcc p.P92S DENND1B_ENST00000400967.2_Missense_Mutation_p.P92S|DENND1B_ENST00000367396.3_Missense_Mutation_p.P102S Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 102 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 TCAAACCAGGGAAGGTAACTG 0.269000 12 65 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82752065 82752065 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:82752065T>C ENST00000396330.2 - 3 663 c.157A>G c.(157-159)Aaa>Gaa p.K53E SNX16_ENST00000345957.4_Missense_Mutation_p.K53E|SNX16_ENST00000353788.4_Missense_Mutation_p.K53E NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 53 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 CTTGTCTGTTTAAAATTACCC 0.368000 9 71 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104463987 104463987 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:104463987G>A ENST00000413579.1 - 5 1000 c.889C>T c.(889-891)Cct>Tct p.P297S IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.S297S|TEX13A_ENST00000372575.1_Silent_p.S297S Q9BXU3 TX13A_HUMAN testis expressed 13A 297 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TATGAGGCAGGGAGCTGGACA 0.532000 12 28 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68312409 68312409 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68312409C>T ENST00000393799.2 + 4 598 c.331C>T c.(331-333)Cta>Tta p.L111L PPP6R3_ENST00000393800.2_Silent_p.L111L|PPP6R3_ENST00000524904.1_Silent_p.L111L|PPP6R3_ENST00000524845.1_Silent_p.L111L|PPP6R3_ENST00000534534.1_Silent_p.L20L|PPP6R3_ENST00000527403.2_Silent_p.L111L|PPP6R3_ENST00000529710.1_Silent_p.L111L|PPP6R3_ENST00000393801.3_Silent_p.L111L|PPP6R3_ENST00000265637.4_Silent_p.L111L|PPP6R3_ENST00000265636.5_Silent_p.L111L Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 111 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TAGCTTCCTCCTAAACGATTC 0.383000 6 59 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106184786 106184786 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:106184786G>A ENST00000355610.4 - 17 3011 c.2737C>T c.(2737-2739)Cgt>Tgt p.R913C MORC4_ENST00000535534.1_Missense_Mutation_p.S648L|MORC4_ENST00000255495.7_Missense_Mutation_p.S900L NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 913 ATP binding|zinc ion binding p.R736C(1)|p.R913C(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 CCGATCTCACGAAGCTCCAAG 0.522000 6 26 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181707532 181707532 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:181707532G>A ENST00000526775.1 + 23 3690 c.3525G>A c.(3523-3525)acG>acA p.T1175T CACNA1E_ENST00000367567.4_Silent_p.T801T|CACNA1E_ENST00000357570.5_Silent_p.T1145T|CACNA1E_ENST00000358338.5_Silent_p.T1126T|CACNA1E_ENST00000367573.2_Silent_p.T1194T|CACNA1E_ENST00000360108.3_Silent_p.T1175T|CACNA1E_ENST00000367570.1_Silent_p.T1194T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1194 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.T1194T(2) 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 ATGTGTTCACGGGCGTGTTCA 0.473000 40 173 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18823030 18823030 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:18823030G>A ENST00000396576.2 + 10 1416 c.915G>A c.(913-915)agG>agA p.R305R CACNB2_ENST00000324631.7_Silent_p.R360R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.R312R|CACNB2_ENST00000352115.6_Silent_p.R336R|CACNB2_ENST00000282343.8_Silent_p.R332R|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Silent_p.R306R|CACNB2_ENST00000377331.2_Silent_p.R308R|CACNB2_ENST00000377319.3_Silent_p.R267R NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 360 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAATCGAAAGGATTTTTGAAC 0.383000 12 46 0 0 1 0 0 ZNF444 55311 broad.mit.edu 37 19 56669966 56669966 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56669966C>T ENST00000337080.3 + 4 768 c.401C>T c.(400-402)cCc>cTc p.P134L ZNF444_ENST00000592171.1_3'UTR|ZNF444_ENST00000592949.1_Missense_Mutation_p.P134L NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 134 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) GGGATGATTCCCTTAGGTGAG 0.657000 4 33 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94815880 94815880 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:94815880C>T ENST00000453321.3 + 22 2348 c.2290C>T c.(2290-2292)Cga>Tga p.R764* TMEM67_ENST00000409623.3_Nonsense_Mutation_p.R683* NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 764 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AGATAAAATTCGACAGTTCGT 0.308000 4 33 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206820811 206820811 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:206820811C>T ENST00000367106.1 + 4 681 c.208C>T c.(208-210)Caa>Taa p.Q70* DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Nonsense_Mutation_p.Q70*|DYRK3_ENST00000367109.2_Nonsense_Mutation_p.Q90* O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 90 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ACAGCTGTTTCAAGAATTTGG 0.388000 10 114 0 0 1 0 0 ACSL5 51703 broad.mit.edu 37 10 114171665 114171665 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:114171665T>C ENST00000393081.1 + 11 1183 c.876T>C c.(874-876)gcT>gcC p.A292A ACSL5_ENST00000369410.3_Silent_p.A74A|ACSL5_ENST00000433418.1_Silent_p.A292A|ACSL5_ENST00000354273.4_Silent_p.A292A|ACSL5_ENST00000354655.4_Silent_p.A292A|ACSL5_ENST00000356116.1_Silent_p.A348A NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 292 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CATAGCATGCTTATGAGCCCA 0.458000 16 93 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591027 86591027 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:86591027C>T ENST00000370571.2 - 3 1358 c.992G>A c.(991-993)gGg>gAg p.G331E COL24A1_ENST00000436319.1_Missense_Mutation_p.G331E NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 331 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GGCCTGAATCCCATGGTTTGT 0.413000 8 57 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429121 135429121 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135429121C>T ENST00000394143.1 + 6 3547 c.3256C>T c.(3256-3258)Cgt>Tgt p.R1086C GPR112_ENST00000287534.4_Missense_Mutation_p.R1023C|GPR112_ENST00000394141.1_Missense_Mutation_p.R881C|GPR112_ENST00000412101.1_Missense_Mutation_p.R881C|GPR112_ENST00000370652.1_Missense_Mutation_p.R1086C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1086 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AGACTTGATTCGTACCACTTC 0.463000 27 152 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168509 142168509 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142168509C>T ENST00000454561.2 - 0 414 CCATTCTCTTCCTCCCTATAA 0.512000 30 64 0 0 1 0 0 MLIP 90523 broad.mit.edu 37 6 53989305 53989305 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:53989305G>A ENST00000514921.1 + 3 367 c.254G>A c.(253-255)gGg>gAg p.G85E MLIP_ENST00000358276.5_Missense_Mutation_p.G79E|MLIP_ENST00000370876.2_Missense_Mutation_p.G23E|MLIP_ENST00000502396.1_Missense_Mutation_p.G96E|MLIP_ENST00000274897.5_Missense_Mutation_p.G85E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370877.2_Missense_Mutation_p.G33E|MLIP_ENST00000509997.1_Missense_Mutation_p.G33E Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 85 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TTGAATGCTGGGAGCCAACAA 0.383000 8 63 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55976879 55976879 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:55976879C>T ENST00000263923.4 - 8 1328 c.1033G>A c.(1033-1035)Ggg>Agg p.G345R NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 345 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACACGCTCCCCCACCGTGGCT 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 11 74 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924330 188924330 + Missense_Mutation SNP G G A rs141008020 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:188924330G>A ENST00000326866.4 + 4 777 c.369G>A c.(367-369)atG>atA p.M123I ZFP42_ENST00000509524.1_Missense_Mutation_p.M123I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 123 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TGGAATACATGAAAAAAGGGG 0.408000 22 72 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130832996 130832996 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:130832996C>T ENST00000357462.5 - 15 2142 c.2049G>A c.(2047-2049)gtG>gtA p.V683V POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Silent_p.V683V A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 683 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCCTTTTTTTCACACTTTCAA 0.413000 9 25 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75643075 75643075 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:75643075G>A ENST00000451157.1 - 5 607 c.438C>T c.(436-438)atC>atT p.I146I STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000248600.1_Silent_p.I146I|STYXL1_ENST00000431581.1_Silent_p.I146I|STYXL1_ENST00000359697.3_Silent_p.I146I|STYXL1_ENST00000360591.3_Intron|STYXL1_ENST00000340062.5_Intron Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 146 intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 GCATCCAGATGATCTTCTGGG 0.587000 76 302 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204811 9204811 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9204811G>A ENST00000429566.3 + 1 957 c.891G>A c.(889-891)ctG>ctA p.L297L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 ACAGAGACCTGAAAGGGGCTC 0.517000 9 42 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566234 155566234 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:155566234C>T ENST00000295101.2 + 2 1299 c.822C>T c.(820-822)atC>atT p.I274I KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 274 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) GCCACGTGATCGATGCCAAAA 0.473000 18 53 0 0 1 0 0 DLD 1738 broad.mit.edu 37 7 107545939 107545939 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107545939C>T ENST00000205402.5 + 7 853 c.572C>T c.(571-573)cCt>cTt p.P191L DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Missense_Mutation_p.P168L|DLD_ENST00000537148.1_Missense_Mutation_p.P92L NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 191 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) ACTCCTTTTCCTGGAATCACG 0.353000 10 74 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131666102 131666102 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:131666102C>T ENST00000368648.3 - 9 901 c.829G>A c.(829-831)Gac>Aac p.D277N EBF3_ENST00000355311.5_Missense_Mutation_p.D286N NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 286 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AAGAAGTTGTCGCCAATTATG 0.567000 4 56 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427198 38427198 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38427198C>T ENST00000322350.5 + 14 2244 c.1898C>T c.(1897-1899)tCc>tTc p.S633F EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.S399F|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.S633F NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 633 Laminin G-like 2. 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) CATTACCTTTCCTTCATGGAA 0.488000 8 119 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885930 70885930 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:70885930G>A ENST00000333538.5 + 5 1435 c.801G>A c.(799-801)cgG>cgA p.R267R WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 267 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) AGGAAAACCGGAAGCGTGTGA 0.547000 17 195 0 0 1 0 0 DEFB125 245938 broad.mit.edu 37 20 76685 76685 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:76685G>A ENST00000382410.2 + 2 98 c.98G>A c.(97-99)gGa>gAa p.G33E NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 33 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) AATAATGTAGGACATTGCAGA 0.328000 15 77 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617711 100617711 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:100617711G>A ENST00000267294.4 - 2 2145 c.1912C>T c.(1912-1914)Cct>Tct p.P638S NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 638 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGCTGGAAGGGGTGTGGAGG 0.517000 6 133 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58155425 58155425 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:58155425C>T ENST00000295956.4 + 45 7691 c.7526C>T c.(7525-7527)tCc>tTc p.S2509F FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.S2316F|FLNB_ENST00000490882.1_Missense_Mutation_p.S2540F|FLNB_ENST00000429972.2_Missense_Mutation_p.S2498F|FLNB_ENST00000419752.2_Missense_Mutation_p.S2329F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000358537.3_Missense_Mutation_p.S2485F|FLNB_ENST00000348383.5_Missense_Mutation_p.S2468F|FLNB_ENST00000357272.4_3'UTR NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2509 Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCAAGGCATCCTCGGACGCC 0.582000 12 57 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115845 168115845 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:168115845G>A ENST00000409728.1 + 11 2977 c.2888G>A c.(2887-2889)aGa>aAa p.R963K XIRP2_ENST00000409756.2_Missense_Mutation_p.R930K|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.R930K|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.R708K|XIRP2_ENST00000420519.1_Missense_Mutation_p.R963K NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 CAGATTAAAAGAAACAGGTGC 0.423000 6 41 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457559 124457559 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:124457559C>T ENST00000329446.4 - 3 729 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 233 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TGTGTTTTTTCCCTCTGCCTC 0.363000 9 33 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528839 20528839 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20528839C>T ENST00000315683.1 + 1 636 c.636C>T c.(634-636)atC>atT p.I212I NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CCTGTTTCATCCTCTTGCTTG 0.458000 19 115 0 0 1 0 0 TPK1 27010 broad.mit.edu 37 7 144288522 144288522 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:144288522G>A ENST00000549981.1 - 9 867 c.144C>T c.(142-144)ctC>ctT p.L48L TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000360057.3_Silent_p.L165L|TPK1_ENST00000378099.3_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 165 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) TCACTGGTTGGAGCAGGTAGA 0.423000 8 145 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14851568 14851568 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:14851568C>T ENST00000380881.4 - 7 1684 c.869G>A c.(868-870)gGa>gAa p.G290E FREM1_ENST00000422223.2_Missense_Mutation_p.G289E|FREM1_ENST00000380880.3_Missense_Mutation_p.G289E Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 289 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ATTCGGAATTCCAGCTCTGAT 0.428000 11 77 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55523813 55523813 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55523813C>T ENST00000305377.5 + 1 349 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F87F(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TGTATTTTTTCCTAGGCAATC 0.383000 12 144 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45010263 45010263 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:45010263G>A ENST00000258787.7 - 9 1281 c.1145C>T c.(1144-1146)cCt>cTt p.P382L NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 382 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 ATCACGCCGAGGATCCCGGCC 0.597000 9 85 0 0 1 0 0 MT4 84560 broad.mit.edu 37 16 56599043 56599043 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:56599043G>A ENST00000219162.3 + 1 83 c.3G>A c.(1-3)atG>atA p.M1I NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 1 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CCTGGACCATGGACCCCAGGG 0.602000 6 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179463349 179463349 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179463349C>T ENST00000589042.1 - 292 57219 c.56995G>A c.(56995-56997)Gat>Aat p.D18999N TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9934N|TTN_ENST00000359218.5_Missense_Mutation_p.D10059N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D17358N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10126N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16431N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17358 Fibronectin type-III 37. 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) TTAGTCCAATCTGTCACTTTG 0.408000 7 28 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 122003249 122003249 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:122003249C>T ENST00000498619.1 + 7 2916 c.2478C>T c.(2476-2478)atC>atT p.I826I CASR_ENST00000296154.5_Silent_p.I816I|CASR_ENST00000490131.1_Silent_p.I816I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 816 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCTTCTTCATCGTCTGGATCT 0.522000 12 79 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:19378093G>A ENST00000550708.1 + 1 572 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 7 350 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15354213 15354213 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15354213G>A ENST00000263377.2 - 14 2888 c.2667C>T c.(2665-2667)gcC>gcT p.A889A NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 889 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) CTGGTGACACGGCTGGGGGCC 0.677000 T C15orf55 lethal midline carcinoma of young people 3 8 0 0 1 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125824732 125824732 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:125824732C>T ENST00000393434.2 - 22 2839 c.2490G>A c.(2488-2490)acG>acA p.T830T ALDH1L1_ENST00000273450.3_Silent_p.T840T|ALDH1L1_ENST00000472186.1_Silent_p.T830T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Silent_p.T729T NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 830 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GGCCAAATTCCGTGGCATTGG 0.572000 19 63 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409221 28409221 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:28409221C>T ENST00000337532.5 - 11 1065 c.789G>A c.(787-789)caG>caA p.Q263Q MPP7_ENST00000445954.2_Silent_p.Q138Q|MPP7_ENST00000375719.3_Silent_p.Q263Q|MPP7_ENST00000540098.1_Silent_p.Q263Q|MPP7_ENST00000375732.1_Silent_p.Q263Q NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 263 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GGCTCATAATCTGAAGAATAT 0.443000 10 77 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168233541 168233541 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:168233541G>A ENST00000519560.1 - 9 1264 c.845C>T c.(844-846)tCg>tTg p.S282L SLIT3_ENST00000404867.3_Missense_Mutation_p.S282L|SLIT3_ENST00000332966.8_Missense_Mutation_p.S282L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 282 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTGCAGGGCGAAGGGCAGGA 0.572000 5 88 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180056521 180056521 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:180056521G>A ENST00000428443.3 - 2 364 c.48C>T c.(46-48)ttC>ttT p.F16F SESTD1_ENST00000486468.1_5'UTR NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 16 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TACCTGAAAGGAAGGCTAGTT 0.299000 3 33 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896790 175896790 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:175896790G>A ENST00000359240.3 + 5 784 c.114G>A c.(112-114)agG>agA p.R38R ADAM29_ENST00000514159.1_Silent_p.R38R|ADAM29_ENST00000445694.1_Silent_p.R38R|ADAM29_ENST00000404450.4_Silent_p.R38R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 38 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TTCCTGTGAGGATAACTGGCA 0.532000 10 37 0 0 1 0 0 OR1C1 26188 broad.mit.edu 37 1 247920898 247920898 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247920898C>T ENST00000408896.2 - 1 1084 c.811G>A c.(811-813)Gac>Aac p.D271N NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GACAGAGTGTCGCTCTCAGGC 0.498000 9 47 0 0 1 0 0 RAMP1 10267 broad.mit.edu 37 2 238820347 238820347 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:238820347C>T ENST00000254661.4 + 3 501 c.369C>T c.(367-369)atC>atT p.I123I RAMP1_ENST00000404910.2_Silent_p.I101I|RAMP1_ENST00000403885.1_Silent_p.I101I|RAMP1_ENST00000409726.1_Silent_p.I101I NM_005855.2 NP_005846.1 O60894 RAMP1_HUMAN receptor (G protein-coupled) activity modifying protein 1 123 intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity kidney(1)|large_intestine(1)|lung(2) 4 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) ACCCCTTCATCGTGGTCCCCA 0.672000 3 35 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51834628 51834628 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51834628G>A ENST00000251076.5 - 9 1294 c.1007C>T c.(1006-1008)cCc>cTc p.P336L DMXL2_ENST00000449909.3_Missense_Mutation_p.P336L|DMXL2_ENST00000543779.2_Missense_Mutation_p.P336L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 336 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGTCTGGTCGGGCATTAATTC 0.398000 3 41 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151138714 151138714 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151138714G>A ENST00000370325.1 - 2 270 c.217C>T c.(217-219)Cgc>Tgc p.R73C GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.R73C P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 73 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R73G(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGATGCGAGAGGCTTCT 0.547000 29 99 0 0 1 0 0 LPCAT1 79888 broad.mit.edu 37 5 1494984 1494984 + Silent SNP G G A rs145500943 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:1494984G>A ENST00000283415.3 - 3 456 c.324C>T c.(322-324)ttC>ttT p.F108F NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 108 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) AGCCGCCGGCGAACCACATGG 0.677000 3 24 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510835 119510835 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:119510835G>A ENST00000368468.3 - 10 1981 c.1540C>T c.(1540-1542)Cga>Tga p.R514* NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 514 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.R514*(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TCACATGTTCGATTATATGAT 0.453000 14 93 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100411642 100411642 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100411642C>T ENST00000358173.3 - 9 2058 c.1588_splice c.e9-1 p.E530_splice EPHB4_ENST00000360620.3_Splice_Site_p.E530_splice|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 530 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) AGCCCTCGCTCTCTGCGGAAG 0.607000 4 96 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144944963 144944963 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144944963G>A ENST00000525985.1 - 2 2530 c.2459C>T c.(2458-2460)tCc>tTc p.S820F P58107 EPIPL_HUMAN epiplakin 1 820 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATACTTCACGGAGAGCAGCAG 0.652000 4 26 0 0 1 0 0 LCE1D 353134 broad.mit.edu 37 1 152770310 152770310 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152770310C>T ENST00000326233.6 + 2 83 c.40C>T c.(40-42)Ccc>Tcc p.P14S NM_178352.2 NP_848129.1 Q5T752 LCE1D_HUMAN late cornified envelope 1D 14 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm large_intestine(1) 1 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCCCCctcccaagtgcac 0.612000 15 29 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224890 42224890 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42224890C>T ENST00000221992.6 + 8 1934 c.1820C>T c.(1819-1821)tCg>tTg p.S607L CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S607L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S606L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 607 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane p.S607L(2) breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCTTACCTTTCGGGAGCGAAC 0.547000 24 157 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100231927 100231927 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:100231927C>T ENST00000305046.8 - 8 1165 c.1098G>A c.(1096-1098)ggG>ggA p.G366G ADH1B_ENST00000394887.3_Silent_p.G326G P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 366 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TCTACCTTTTCCCAGAGTGAA 0.338000 6 50 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48646833 48646833 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:48646833C>T ENST00000263274.7 - 11 1300 c.881G>A c.(880-882)cGg>cAg p.R294Q LIG1_ENST00000536218.1_Missense_Mutation_p.R226Q|LIG1_ENST00000427526.2_Missense_Mutation_p.R263Q NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 294 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTCAAACGTCCGGGCCACAGC 0.597000 Nucleotide excision repair (NER) 14 82 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648153 130648153 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:130648153G>A ENST00000539839.1 + 1 1150 c.568G>A c.(568-570)Gga>Aga p.G190R FZD10_ENST00000229030.4_Silent_p.E222E NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GGAGCCGCGAGGACAAGCGCT 0.687000 6 47 0 0 1 0 0 PAPL 390928 broad.mit.edu 37 19 39597622 39597622 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:39597622C>T ENST00000331256.5 + 12 1423 c.1149C>T c.(1147-1149)ttC>ttT p.F383F PAPL_ENST00000594229.1_Intron NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 383 extracellular region acid phosphatase activity|metal ion binding TTGCTGTCTTCCCGAGGCCCT 0.642000 8 44 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814156 106814156 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:106814156C>T ENST00000407775.2 + 8 2096 c.1846C>T c.(1846-1848)Cct>Tct p.P616S RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P484S|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P484S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P347S NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 616 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.P616A(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTCTGCTGATCCTGAGAATCC 0.453000 8 76 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117632191 117632191 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117632191G>A ENST00000368508.3 - 39 6423 c.6225C>T c.(6223-6225)ttC>ttT p.F2075F ROS1_ENST00000368507.3_Silent_p.F2069F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2075 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.F2075F(2) 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) ACCTGTGAATGAAATGCATCC 0.378000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 6 54 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27605730 27605730 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:27605730C>T ENST00000356537.4 - 7 508 c.415G>A c.(415-417)Gag>Aag p.E139K RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Missense_Mutation_p.E71K|CCDC25_ENST00000522915.1_Missense_Mutation_p.E71K NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 139 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) GGGAACCGCTCGACTTTGGTC 0.393000 6 48 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99270202 99270202 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99270202C>T ENST00000339843.2 - 5 939 c.e5+1 CYP3A5_ENST00000343703.5_Splice_Site|CYP3A5_ENST00000480723.1_Splice_Site|CYP3A5_ENST00000439761.1_Splice_Site|CYP3A5_ENST00000222982.4_Splice_Site cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TGGATGCTTACCCTTCGATTT 0.338000 29 96 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848661 166848661 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:166848661C>T ENST00000423058.2 - 26 5141 c.5124G>A c.(5122-5124)gaG>gaA p.E1708E SCN1A_ENST00000375405.3_Silent_p.E1697E|SCN1A_ENST00000303395.4_Silent_p.E1708E|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E1680E NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1708 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGCCAAAGGTCTCAAAGTTGA 0.468000 27 177 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906093 129906093 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:129906093C>T ENST00000368654.3 - 13 4386 c.4011G>A c.(4009-4011)aaG>aaA p.K1337K MKI67_ENST00000368653.3_Silent_p.K977K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1337 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) GGGCCTCTTCCTTAGGAGTTT 0.493000 29 131 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053200 17053200 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:17053200C>T ENST00000418129.2 + 2 2449 c.1984C>T c.(1984-1986)Cat>Tat p.H662Y PLCL2_ENST00000432376.1_Missense_Mutation_p.H662Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.H662Y NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 788 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGTTGAAATCCATGGAATCCC 0.418000 3 25 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62299369 62299369 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:62299369G>A ENST00000371158.2 + 17 2138 c.2024G>A c.(2023-2025)gGg>gAg p.G675E INADL_ENST00000316485.6_Missense_Mutation_p.G675E NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 675 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GATGATGATGGGGAATTAGCA 0.363000 4 56 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123813961 123813961 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123813961C>T ENST00000321252.2 - 1 619 c.585G>A c.(583-585)ctG>ctA p.L195L NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 195 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) CCACCAGTTTCAGCAGGTGGG 0.547000 10 44 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9953126 9953126 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:9953126G>A ENST00000454190.2 + 12 1157 c.e12-1 IL17RE_ENST00000383814.3_Splice_Site|IL17RE_ENST00000295980.3_Splice_Site|IL17RE_ENST00000421412.1_Splice_Site NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) GCCCCAAACAGGGTCTCTCAC 0.537000 13 121 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51828912 51828912 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51828912G>A ENST00000251076.5 - 12 2052 c.1765C>T c.(1765-1767)Cct>Tct p.P589S DMXL2_ENST00000449909.3_Missense_Mutation_p.P589S|DMXL2_ENST00000543779.2_Missense_Mutation_p.P589S NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 589 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GATCCGTGAGGACTGCCTACA 0.418000 11 69 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97051774 97051774 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:97051774G>A ENST00000524981.3 + 4 568 c.568G>A c.(568-570)Gat>Aat p.D190N Q6ZTY8 CL063_HUMAN 164 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AAATGTGGTTGATTTGAAATG 0.358000 12 100 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38910715 38910715 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:38910715G>A ENST00000312150.4 - 2 495 c.435C>T c.(433-435)atC>atT p.I145I NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 145 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TGGTGGATGCGATGATCTAGA 0.368000 5 83 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103364547 103364547 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:103364547G>A ENST00000358392.2 - 55 4443 c.4126C>T c.(4126-4128)Cct>Tct p.P1376S COL11A1_ENST00000370096.3_Missense_Mutation_p.P1364S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1248S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1325S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1364 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTCCAGGAGGACCCTATAGA 0.279000 4 38 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40013305 40013305 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:40013305G>A ENST00000308666.3 - 1 248 c.113C>T c.(112-114)cCc>cTc p.P38L NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 38 Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 GCCAATGATGGGATAGAGGGT 0.517000 9 76 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123987921 123987921 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:123987921G>A ENST00000360013.3 + 5 909 c.782G>A c.(781-783)gGc>gAc p.G261D KALRN_ENST00000240874.3_Missense_Mutation_p.G261D|KALRN_ENST00000460856.1_Missense_Mutation_p.G261D NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 261 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGCAGCGACGGCTTCTCAGGA 0.632000 6 22 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355304 175355304 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175355304C>T ENST00000367674.1 - 8 2349 c.1641G>A c.(1639-1641)agG>agA p.R547R TNR_ENST00000263525.2_Silent_p.R547R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 547 Fibronectin type-III 3. 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) GGAAGGTGGTCCTCCCACCTT 0.597000 4 48 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41166046 41166046 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:41166046C>T ENST00000483722.1 - 2 362 c.177G>A c.(175-177)agG>agA p.R59R NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 59 Ig-like V-type. R -> K (in Ref. 3; BAB14668). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) ACTTCTTCTTCCTGATTTTGC 0.552000 9 173 0 0 1 0 0 PRAMEF20 645425 broad.mit.edu 37 1 13743021 13743021 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:13743021G>A ENST00000316412.5 + 2 309 c.210G>A c.(208-210)atG>atA p.M70I PRAMEF20_ENST00000602960.1_Missense_Mutation_p.M70I NM_001099852.1 NP_001093322.1 Q5VT98 PRA20_HUMAN PRAME family member 20 70 endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGTCTCTGATGAAAAGGCCTT 0.597000 6 46 0 0 1 0 0 TRIM35 23087 broad.mit.edu 37 8 27145504 27145504 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:27145504G>A ENST00000305364.4 - 6 1128 c.1045C>T c.(1045-1047)Cgt>Tgt p.R349C TRIM35_ENST00000521253.1_3'UTR NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 349 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) GAGAAGACACGGGAGCCCAGC 0.687000 8 53 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147024544 147024544 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:147024544C>T ENST00000265272.5 - 6 1419 c.952G>A c.(952-954)Gaa>Aaa p.E318K JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E276K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E318K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 318 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCGGTTTCCCGCACACGT 0.493000 12 56 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119631622 119631622 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:119631622G>A ENST00000264235.8 - 6 1626 c.644C>T c.(643-645)tCg>tTg p.S215L GSK3B_ENST00000316626.5_Missense_Mutation_p.S215L NM_001146156.1|NM_002093.3 NP_001139628.1|NP_002084.2 P49841 GSK3B_HUMAN glycogen synthase kinase 3 beta 215 Protein kinase. axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) ACAGATATACGAAACATTGGG 0.348000 5 40 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2944669 2944669 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:2944669C>T ENST00000520002.1 - 50 7982 c.7427G>A c.(7426-7428)cGa>cAa p.R2476Q CSMD1_ENST00000602723.1_Missense_Mutation_p.R2476Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2476Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2475Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2476Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2476 Sushi 14. integral to membrane p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1) 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) AAGTGGGTTTCGTCTACAGGT 0.507000 4 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063387 9063387 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9063387G>A ENST00000397910.4 - 3 24262 c.24059C>T c.(24058-24060)tCa>tTa p.S8020L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8022 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACAGGTTCTGAGCTTTTGTG 0.463000 5 70 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15756159 15756159 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:15756159T>A ENST00000399451.2 - 9 1278 c.911A>T c.(910-912)aAa>aTa p.K304I ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.K337I NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 304 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TTTCCCATCTTTACTCTGGGG 0.358000 4 22 0 0 1 0 0 C2orf83 56918 broad.mit.edu 37 2 228476231 228476231 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228476231G>A ENST00000264387.4 - 3 418 c.332C>T c.(331-333)tCc>tTc p.S111F C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 111 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 GGCAGTGCTGGAGAGAGTTTC 0.532000 4 71 0 0 1 0 0 ASRGL1 80150 broad.mit.edu 37 11 62159581 62159581 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:62159581C>T ENST00000415229.2 + 7 967 c.752C>T c.(751-753)tCg>tTg p.S251L CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.S251L NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 251 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) GCGGACCTATCGTTGGGTTAT 0.478000 OREG0021023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 61 0 0 1 0 0 MRPL35 51318 broad.mit.edu 37 2 86434390 86434390 + Silent SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:86434390C>G ENST00000337109.4 + 3 352 c.318C>G c.(316-318)acC>acG p.T106T MRPL35_ENST00000254644.8_Silent_p.T106T|MRPL35_ENST00000409180.1_Silent_p.T106T|MRPL35_ENST00000605125.1_Intron NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 106 translation mitochondrial ribosome structural constituent of ribosome cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 AGAGAAAGACCGTGAAAGCTG 0.423000 7 54 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21314463 21314463 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:21314463C>T ENST00000377191.3 + 11 1150 c.1055C>T c.(1054-1056)tCg>tTg p.S352L XRN2_ENST00000430571.2_Missense_Mutation_p.S276L|XRN2_ENST00000539513.1_Missense_Mutation_p.S298L NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 352 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 CATTTGCCATCGTTAGAGATT 0.418000 33 244 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59851870 59851870 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:59851870G>A ENST00000361421.1 - 3 622 c.402C>T c.(400-402)tcC>tcT p.S134S NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 134 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CCACAGAAATGGAATTAGAAA 0.473000 17 63 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108672604 108672604 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108672604C>T ENST00000261047.3 - 1 138 c.6G>A c.(4-6)ggG>ggA p.G2G GUCA1C_ENST00000471108.1_Silent_p.G2G|GUCA1C_ENST00000393963.3_Silent_p.G2G NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 2 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 ATTTGCCATTCCCCATCTTGA 0.423000 16 75 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361968 83361968 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:83361968C>T ENST00000262752.2 - 14 1199 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E398K NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 398 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATTTTATATTCTTCTGCAATA 0.353000 11 14 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48668808 48668808 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48668808C>T ENST00000352832.5 + 11 2838 c.2466C>T c.(2464-2466)atC>atT p.I822I CACNA1G_ENST00000510366.1_Silent_p.I822I|CACNA1G_ENST00000513964.1_Silent_p.I822I|CACNA1G_ENST00000442258.2_Silent_p.I822I|CACNA1G_ENST00000507510.2_Silent_p.I822I|CACNA1G_ENST00000502264.1_Silent_p.I822I|CACNA1G_ENST00000507336.1_Silent_p.I822I|CACNA1G_ENST00000359106.5_Silent_p.I822I|CACNA1G_ENST00000513689.2_Silent_p.I822I|CACNA1G_ENST00000360761.4_Silent_p.I822I|CACNA1G_ENST00000416767.4_Silent_p.I822I|CACNA1G_ENST00000510115.1_Silent_p.I822I|CACNA1G_ENST00000505165.1_Silent_p.I822I|CACNA1G_ENST00000515165.1_Silent_p.I822I|CACNA1G_ENST00000515765.1_Silent_p.I822I|CACNA1G_ENST00000429973.2_Silent_p.I822I|CACNA1G_ENST00000515411.1_Silent_p.I822I|CACNA1G_ENST00000358244.5_Silent_p.I822I|CACNA1G_ENST00000514717.1_Silent_p.I822I|CACNA1G_ENST00000514181.1_Silent_p.I822I|CACNA1G_ENST00000514079.1_Silent_p.I822I|CACNA1G_ENST00000507896.1_Silent_p.I822I|CACNA1G_ENST00000507609.1_Silent_p.I822I|CACNA1G_ENST00000512389.1_Silent_p.I822I|CACNA1G_ENST00000354983.4_Silent_p.I822I|CACNA1G_ENST00000503485.1_Silent_p.I822I 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 822 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) TGTGGGAGATCGTGGGCCAGC 0.697000 3 9 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11014171 11014171 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:11014171C>T ENST00000377004.4 - 10 1003 c.1004G>A c.(1003-1005)gGa>gAa p.G335E C1orf127_ENST00000377008.4_Missense_Mutation_p.G168E NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 186 p.G168E(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) AGCTTGTGTTCCCGGGGTTCC 0.567000 11 134 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89940612 89940612 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:89940612C>T ENST00000405460.2 + 15 2920 c.2824C>T c.(2824-2826)Cct>Tct p.P942S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 942 Calx-beta 7. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGATGTATTTCCTGTACAAGG 0.378000 7 98 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131404772 131404772 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:131404772C>T ENST00000512055.1 - 10 2664 c.538G>A c.(538-540)Gaa>Aaa p.E180K CPNE4_ENST00000502818.1_Missense_Mutation_p.E198K|CPNE4_ENST00000429747.1_Missense_Mutation_p.E180K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E180K|CPNE4_ENST00000512332.1_Missense_Mutation_p.E198K Q96A23 CPNE4_HUMAN copine IV 180 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CGAAAAATTTCCAGAAATGGG 0.383000 9 32 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1204906 1204906 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:1204906G>A ENST00000308624.5 + 9 838 c.709G>A c.(709-711)Gaa>Aaa p.E237K SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Missense_Mutation_p.E110K NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 237 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AGCCGGAACGGAAAAATTAAG 0.537000 22 143 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1096471 1096471 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1096471G>A ENST00000441003.2 + 34 6523 c.6496G>A c.(6496-6498)Gat>Aat p.D2166N MUC2_ENST00000361558.6_Missense_Mutation_p.D304N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4528 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) CTACCACTGCGATCCCAACGA 0.577000 6 97 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48823245 48823245 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:48823245G>A ENST00000218176.3 - 3 2588 c.1291C>T c.(1291-1293)Cgc>Tgc p.R431C KCND1_ENST00000376477.1_Missense_Mutation_p.R54C NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 431 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 CTTGCCAAGCGCACCTTCTGC 0.572000 8 16 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152190933 152190933 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152190933C>T ENST00000368801.2 - 3 3247 c.3172G>A c.(3172-3174)Gga>Aga p.G1058R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1058 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGACTGTCCTGAGCGAGAC 0.562000 27 180 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 61021871 61021871 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:61021871G>A ENST00000238714.3 + 20 2265 c.2016G>A c.(2014-2016)aaG>aaA p.K672K NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 672 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) CAACATTTAAGGACCCCCGCA 0.299000 4 34 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233187 21233187 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21233187T>G ENST00000233242.1 - 26 6680 c.6553A>C c.(6553-6555)Att>Ctt p.I2185L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2185 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTATCTTTAATATACTGATCA 0.244000 3 8 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592205 1592205 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:1592205T>A ENST00000279477.7 - 2 295 c.231A>T c.(229-231)ttA>ttT p.L77F SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.L77F|SIRPB1_ENST00000381596.1_5'UTR NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 77 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GATTGTAGATTAATTCCCGGC 0.517000 18 57 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43571824 43571824 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43571824C>T ENST00000452443.2 - 10 1681 c.1678_splice c.e10+1 p.K559_splice NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 559 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) CACACTCACCCTTCCCAAAGT 0.617000 15 155 0 0 1 0 0 PLA2G6 8398 broad.mit.edu 37 22 38525476 38525476 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:38525476A>C ENST00000332509.3 - 8 1354 c.1171T>G c.(1171-1173)Tcc>Gcc p.S391A PLA2G6_ENST00000402064.1_Missense_Mutation_p.S391A|PLA2G6_ENST00000335539.3_Missense_Mutation_p.S391A NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 391 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) CCGATTTTGGAGGCTAGGAAT 0.567000 7 53 0 0 1 0 0 LAS1L 81887 broad.mit.edu 37 X 64744106 64744106 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:64744106G>A ENST00000374811.3 - 10 1170 c.1130C>T c.(1129-1131)cCg>cTg p.P377L LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.P360L|LAS1L_ENST00000374804.5_Missense_Mutation_p.P318L NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 377 MLL1 complex|nucleolus protein binding p.P377L(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 CTGAGAGAACGGCTTTGGCAC 0.572000 3 12 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604719 62604719 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:62604719G>A ENST00000281156.4 - 6 909 c.631C>T c.(631-633)Cct>Tct p.P211S NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 211 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GGGGGAGGAGGAATGGCACCC 0.537000 11 35 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78440626 78440626 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:78440626C>T ENST00000278550.7 - 22 3663 c.3201G>A c.(3199-3201)cgG>cgA p.R1067R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AGCCAGGGGTCCGGCTGCTCA 0.582000 4 55 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 308073 308073 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:308073G>A ENST00000428720.1 - 8 1479 c.736C>T c.(736-738)Ccg>Tcg p.P246S SLC6A12_ENST00000397296.2_Missense_Mutation_p.P246S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P246S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P246S|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P246S NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 246 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ATCAGGTACGGAAACGTGGCT 0.577000 14 56 0 0 1 0 0 ZNF767 79970 broad.mit.edu 37 7 149318390 149318390 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:149318390G>A ENST00000463567.1 - 0 446 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) GCAGCCGCAGGATCCAGAAGT 0.692000 10 226 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33328830 33328830 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:33328830G>A ENST00000374796.2 - 12 7800 c.5230C>T c.(5230-5232)Cct>Tct p.P1744S NCOA6_ENST00000359003.2_Missense_Mutation_p.P1744S Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1744 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGAGGGGAAGGAAGCTGAACA 0.542000 6 66 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965935 88965935 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:88965935C>T ENST00000333190.4 + 4 4248 c.3639C>T c.(3637-3639)ttC>ttT p.F1213F NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1213 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACCACACGTTCCTGCAGCATT 0.493000 HNSCC(36;0.09) 16 123 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66941750 66941750 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:66941750C>T ENST00000374690.3 + 6 2918 c.2394C>T c.(2392-2394)ctC>ctT p.L798L AR_ENST00000396043.2_Silent_p.L266L|AR_ENST00000396044.3_Intron NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 797 Interaction with MYST2.|Ligand-binding. Q -> E (in PAIS, AIS and prostate cancer; reduced transcription activation). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TTGGATGGCTCCAAATCACCC 0.527000 Androgen Insensitivity Syndrome 6 43 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776783 5776783 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5776783C>T ENST00000317254.3 + 1 861 c.813C>T c.(811-813)atC>atT p.I271I TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) AACACATAATCCCCCCTTCTT 0.453000 22 95 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414349 20414349 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:20414349G>A ENST00000380338.4 - 5 781 c.495C>T c.(493-495)agC>agT p.S165S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 165 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctactgctgctgctgctgc 0.532000 T MLL ALL 4 35 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115455667 115455667 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115455667G>A ENST00000369522.3 + 19 1783 c.1543G>A c.(1543-1545)Gaa>Aaa p.E515K SYCP1_ENST00000369518.1_Missense_Mutation_p.E515K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 515 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAAGAATACTGAATTAACTTC 0.299000 15 45 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2024075 2024075 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:2024075C>T ENST00000382722.5 - 2 616 c.254G>A c.(253-255)gGc>gAc p.G85D CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G85D|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G21D|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G85D|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G21D|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G85D NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 85 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAGGTCCCCGCCGAAGGTGTC 0.542000 9 47 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75899295 75899295 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:75899295G>A ENST00000322507.8 - 6 940 c.631C>T c.(631-633)Cca>Tca p.P211S COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P211S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P211S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 211 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCTTTATATGGAATTTTTTTT 0.323000 6 96 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10720494 10720494 + Missense_Mutation SNP C C T rs150116767 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:10720494C>T ENST00000377022.3 - 6 922 c.605G>A c.(604-606)aGg>aAg p.R202K CASZ1_ENST00000344008.5_Missense_Mutation_p.R202K NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCTGATCTTCCTGGCCAGCTC 0.657000 11 35 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138239657 138239657 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138239657T>C ENST00000343526.4 + 9 1691 c.1476T>C c.(1474-1476)ggT>ggC p.G492G TRIM24_ENST00000415680.2_Intron|TRIM24_ENST00000497516.1_Intron O15164 TIF1A_HUMAN tripartite motif containing 24 492 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CACCTGTGGGTTTACCAAACC 0.498000 34 65 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115144187 115144187 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115144187C>T ENST00000393274.1 - 13 2382 c.1757G>A c.(1756-1758)cGa>cAa p.R586Q DENND2C_ENST00000393276.3_Missense_Mutation_p.R529Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R586Q NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 586 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCAGGGAGTCGCTTTCCTTT 0.358000 75 260 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196722328 196722328 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196722328C>T ENST00000312428.6 - 44 8287 c.8187G>A c.(8185-8187)ggG>ggA p.G2729G NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2729 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAATTTTTTTCCCTGAACCTG 0.443000 4 50 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78619030 78619030 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:78619030C>T ENST00000373298.2 - 2 276 c.133G>A c.(133-135)Gaa>Aaa p.E45K ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron NM_004867.4 NP_004858.1 O43736 ITM2A_HUMAN integral membrane protein 2A 45 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 CCCTCTTTTTCCTGGGTGGCA 0.398000 4 21 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956606 93956606 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:93956606C>T ENST00000369303.4 - 15 2814 c.2630G>A c.(2629-2631)cGt>cAt p.R877H NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 877 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R877L(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTTTCAGCACGCTCCTTTTG 0.423000 7 54 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187446258 187446258 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:187446258G>A ENST00000406870.2 - 6 1796 c.1430C>T c.(1429-1431)tCc>tTc p.S477F RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S477F|BCL6_ENST00000232014.4_Missense_Mutation_p.S477F|RP11-211G3.3_ENST00000449623.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 477 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) AGAGCCGCAGGACGTGCACTT 0.607000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 9 35 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20639370 20639370 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:20639370C>A ENST00000525748.1 + 7 1473 c.1200C>A c.(1198-1200)ctC>ctA p.L400L NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 400 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CTCTCTGCCTCTTCCTGGCTT 0.478000 17 141 1.87028e-06 1.8873e-06 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107408071 107408071 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107408071C>T ENST00000340010.5 - 20 2408 c.2224G>A c.(2224-2226)Gat>Aat p.D742N SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629N NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 742 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGGTAAAATCAATTTTTCCA 0.323000 4 17 0 0 1 0 0 LIME1 54923 broad.mit.edu 37 20 62370243 62370243 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62370243C>A ENST00000309546.3 + 6 965 c.878C>A c.(877-879)tCc>tAc p.S293Y LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR NM_017806.2 NP_060276.2 Lck interacting transmembrane adaptor 1 kidney(1)|large_intestine(1)|liver(1) 3 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CTCCCTGCCTCCCTGCCCTGA 0.721000 5 15 0.184627 0.184743 1 1 0 IL2RA 3559 broad.mit.edu 37 10 6063631 6063631 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:6063631C>T ENST00000379959.3 - 4 566 c.393G>A c.(391-393)tgG>tgA p.W131* IL2RA_ENST00000256876.6_Nonsense_Mutation_p.W131*|IL2RA_ENST00000379954.1_Intron NM_000417.2 NP_000408.1 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha 131 Sushi 2. cell proliferation integral to membrane interleukin-2 receptor activity p.W131*(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CTTCATTTTCCCATGGTGGAG 0.527000 11 51 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15826515 15826515 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:15826515G>A ENST00000226279.2 + 3 512 c.375G>A c.(373-375)tgG>tgA p.W125* NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 125 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TTCTTCTTTGGAGCAGAATAA 0.388000 9 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048113 9048113 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9048113G>A ENST00000397910.4 - 5 33721 c.33518C>T c.(33517-33519)tCt>tTt p.S11173F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11175 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 TTCATCAGAAGAAATAGTCAG 0.453000 7 42 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189916093 189916093 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:189916093G>A ENST00000374866.3 - 42 3158 c.2884C>T c.(2884-2886)Cct>Tct p.P962S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 962 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGCCACCAGGGGGGCCAGCT 0.597000 6 58 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373909 86373909 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:86373909G>A ENST00000604798.1 - 8 1799 c.595C>T c.(595-597)Cgt>Tgt p.R199C MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199C|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199C Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 199 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGCTTGGAACGAAATTTGACT 0.338000 5 80 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012200 160012200 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160012200C>T ENST00000368089.3 - 2 349 c.123G>A c.(121-123)atG>atA p.M41I NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 41 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity p.M41I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAATGTGCTCCATTCTCACGT 0.547000 13 105 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807488 143807488 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143807488A>T ENST00000408979.2 + 1 882 c.813A>T c.(811-813)aaA>aaT p.K271N NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AGCAGGAGAAAATGCTGTCCC 0.522000 19 198 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71887252 71887252 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:71887252G>A ENST00000373545.3 - 7 1128 c.690C>T c.(688-690)gtC>gtT p.V230V PHKA1_ENST00000373539.3_Silent_p.V230V|PHKA1_ENST00000373542.4_Silent_p.V230V|PHKA1_ENST00000541944.1_Silent_p.V230V|PHKA1_ENST00000339490.3_Silent_p.V230V P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 230 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CATCAGCCAGGACATGGATAA 0.418000 4 29 0 0 1 0 0 DPF1 8193 broad.mit.edu 37 19 38709597 38709597 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:38709597C>T ENST00000416611.1 - 4 526 c.403G>A c.(403-405)Gag>Aag p.E135K DPF1_ENST00000456296.1_Missense_Mutation_p.E135K|DPF1_ENST00000412732.1_Missense_Mutation_p.E79K|DPF1_ENST00000355526.4_Missense_Mutation_p.E161K|DPF1_ENST00000420980.2_Missense_Mutation_p.E161K|DPF1_ENST00000414789.1_Missense_Mutation_p.E79K Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 161 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTCTCCTCCTCCTTCAGCTCA 0.647000 10 130 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130412677 130412677 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130412677A>C ENST00000370904.1 - 18 2682 c.1772T>G c.(1771-1773)tTt>tGt p.F591C IGSF1_ENST00000361420.3_Missense_Mutation_p.F600C|IGSF1_ENST00000370903.3_Missense_Mutation_p.F605C|IGSF1_ENST00000370910.1_Missense_Mutation_p.F591C Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 600 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCCAGAGGAAAGTTGGTCTC 0.547000 20 66 0 0 1 0 0 FIZ1 84922 broad.mit.edu 37 19 56104194 56104194 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56104194G>A ENST00000221665.3 - 3 1202 c.1113C>T c.(1111-1113)gcC>gcT p.A371A NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 371 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CCTCCAAGGCGGCCAGCGCCG 0.771000 5 18 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258072 56258072 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56258072G>A ENST00000327216.2 - 1 799 c.775C>T c.(775-777)Ctc>Ttc p.L259F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 259 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) GGGGGTCTGAGATACATGAAG 0.413000 9 49 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 391211 391211 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:391211C>T ENST00000256509.2 + 10 1660 c.1018C>T c.(1018-1020)Cac>Tac p.H340Y CHL1_ENST00000397491.2_Missense_Mutation_p.H324Y NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 324 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCACGATTTTCACGTTATAGT 0.393000 8 98 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028139 84028139 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:84028139C>T ENST00000280241.8 - 1 49 c.50G>A c.(49-51)gGg>gAg p.G17E DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.G17E NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GGCATCCATCCCATCGGACCC 0.572000 23 102 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717196 142717196 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:142717196C>T ENST00000381779.4 - 2 1954 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K SLITRK4_ENST00000338017.4_Missense_Mutation_p.E577K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E577K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 577 LRRCT 2. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CATAAGATTTCATTTTTGAGG 0.463000 23 86 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839442 15839442 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15839442G>A ENST00000305899.3 + 1 609 c.589G>A c.(589-591)Gcc>Acc p.A197T NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) ACCAGCTGTGGCCCTGGGCGT 0.502000 20 74 0 0 1 0 0 SNRNP200 23020 broad.mit.edu 37 2 96953255 96953255 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:96953255G>A ENST00000323853.5 - 26 3483 c.3406C>T c.(3406-3408)Cct>Tct p.P1136S SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1136 SEC63 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 ACTTCCTCAGGGAGTTTCCGG 0.517000 8 70 0 0 1 0 0 DUSP1 1843 broad.mit.edu 37 5 172196657 172196657 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:172196657G>A ENST00000239223.3 - 3 896 c.654C>T c.(652-654)taC>taT p.Y218Y RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 218 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) TCTTGTACTGGTAGTGACCCT 0.522000 19 114 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26414446 26414446 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26414446A>T ENST00000265944.5 + 19 2189 c.2023A>T c.(2023-2025)Agg>Tgg p.R675W MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 675 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TACCGATGTCAGGGATGCCAT 0.418000 16 101 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158637647 158637647 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158637647C>T ENST00000368148.3 - 15 2219 c.e15+1 SPTA1_ENST00000368147.3_Splice_Site NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGCTTTTTACCTTTCTGTTT 0.428000 4 20 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545860 82545860 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82545860C>T ENST00000423517.2 - 7 11779 c.11442G>A c.(11440-11442)aaG>aaA p.K3814K PCLO_ENST00000437081.1_Silent_p.K534K|PCLO_ENST00000333891.8_Silent_p.K3814K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3745 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.K3814K(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCTCTCTCCTTTAATAGGG 0.448000 7 66 0 0 1 0 0 WSCD2 9671 broad.mit.edu 37 12 108589950 108589950 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:108589950C>T ENST00000332082.4 + 3 1159 c.341C>T c.(340-342)gCc>gTc p.A114V WSCD2_ENST00000547525.1_Missense_Mutation_p.A114V|WSCD2_ENST00000549903.1_Missense_Mutation_p.A114V|WSCD2_ENST00000261400.3_Missense_Mutation_p.A114V Q2TBF2 WSCD2_HUMAN WSC domain containing 2 114 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGGAGCCGAGCCCTCAAGGGG 0.592000 4 36 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433935 72433935 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:72433935C>T ENST00000373517.3 - 1 749 c.394G>A c.(394-396)Gaa>Aaa p.E132K NAP1L2_ENST00000536638.1_5'UTR NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 132 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCATGAAATTCCCTCAGGAAT 0.383000 5 67 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112944841 112944841 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:112944841G>A ENST00000331203.2 + 8 1349 c.1078G>A c.(1078-1080)Gcc>Acc p.A360T FBLN7_ENST00000409450.3_Missense_Mutation_p.A314T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Missense_Mutation_p.A226T NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 360 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding p.A360T(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CATGGCCACAGCCTCTGCCCC 0.642000 15 85 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725533 55725533 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55725533G>A ENST00000379667.1 + 1 49 c.49G>A c.(49-51)Gat>Aat p.D17N NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CCTTTCTGATGATCCTGACCT 0.398000 9 60 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3736193 3736193 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3736193C>T ENST00000541714.2 + 11 1620 c.1158C>T c.(1156-1158)ttC>ttT p.F386F TJP3_ENST00000589378.1_Silent_p.F395F|TJP3_ENST00000262968.9_Silent_p.F419F|TJP3_ENST00000382008.3_Silent_p.F400F|TJP3_ENST00000587686.1_Silent_p.F405F|TJP3_ENST00000539908.2_Silent_p.F350F NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 400 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCCGCTTCCTCAAGGGCA 0.677000 5 42 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37627841 37627841 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37627841C>T ENST00000447079.4 + 2 1789 c.1756C>T c.(1756-1758)Cct>Tct p.P586S CDK12_ENST00000430627.2_Missense_Mutation_p.P586S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 586 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 AACTTTGCCCCCTTCTACTCA 0.493000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 25 227 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96698059 96698059 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:96698059G>A ENST00000434632.1 - 3 508 c.49C>T c.(49-51)Ccc>Tcc p.P17S GPAT2_ENST00000377137.3_Missense_Mutation_p.P17S|GPAT2_ENST00000453542.1_Missense_Mutation_p.P17S|GPAT2_ENST00000359548.4_Missense_Mutation_p.P17S Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 17 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CGGCCACTGGGGCTGCTCCTT 0.582000 3 14 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135279383 135279383 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:135279383C>T ENST00000285968.6 + 13 1945 c.1919C>T c.(1918-1920)cCt>cTt p.P640L NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 640 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGTATTCCCCCTGTCCTAAAA 0.493000 8 79 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041328 234041328 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:234041328C>T ENST00000366618.3 + 2 252 c.107C>T c.(106-108)cCc>cTc p.P36L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 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) GACATCAGCCCCCAGCTCCGG 0.672000 7 31 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158253972 158253972 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:158253972A>G ENST00000296526.7 + 7 1209 c.882_splice c.e7-1 p.Y295_splice GRIA2_ENST00000264426.9_Splice_Site_p.Y295_splice|GRIA2_ENST00000449365.1_Splice_Site_p.Y248_splice|GRIA2_ENST00000393815.2_Splice_Site_p.Y248_splice|GRIA2_ENST00000507898.1_Splice_Site_p.Y248_splice NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 295 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CCTTTGCAGTATACTTCTGCT 0.458000 20 65 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658818 72658818 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:72658818G>A ENST00000425256.1 - 0 1093 NR_002164.1 agacatgttggaatattctgt 0.413000 18 103 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149700080 149700080 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:149700080T>C ENST00000367456.1 + 4 1606 c.1029T>C c.(1027-1029)tcT>tcC p.S343S TAB2_ENST00000538427.1_Silent_p.S343S|TAB2_ENST00000536230.1_Silent_p.S311S|TAB2_ENST00000286332.5_Silent_p.S343S|TAB2_ENST00000392282.1_Silent_p.S343S Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 343 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 AACTGCGTTCTTCTGGACCTC 0.428000 17 52 0 0 1 0 0 TRAV8-6 28680 broad.mit.edu 37 14 22447102 22447102 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22447102G>A ENST00000390443.3 + 0 303 CAGCTTGACAGCCAAGTCCCT 0.463000 OREG0022573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 120 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196671484 196671484 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196671484G>A ENST00000312428.6 - 54 10256 c.10156C>T c.(10156-10158)Cgt>Tgt p.R3386C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3386 R -> H (in dbSNP:rs6708527). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTCAAGCAACGAATAATAAGC 0.393000 3 48 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121471365 121471365 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:121471365C>T ENST00000257570.5 - 2 650 c.380G>A c.(379-381)aGg>aAg p.R127K OASL_ENST00000339275.5_Missense_Mutation_p.R127K NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 127 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) CTGCTCCATCCTCAGGTCCTC 0.587000 10 77 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078665 22078665 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:22078665G>A ENST00000382254.1 - 5 1207 c.121C>T c.(121-123)Cat>Tat p.H41Y CDH12_ENST00000504376.2_Missense_Mutation_p.H41Y|CDH12_ENST00000522262.1_Missense_Mutation_p.H41Y NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 41 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCTGGCAGATGGATAACATTT 0.483000 HNSCC(59;0.17) 36 134 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962250 73962250 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73962250C>T ENST00000373468.1 - 3 2793 c.2142G>A c.(2140-2142)agG>agA p.R714R KIAA2022_ENST00000055682.5_Silent_p.R714R Q5QGS0 K2022_HUMAN KIAA2022 714 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGAGCACTTTCCTCTCTGGCC 0.418000 8 40 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414998 46414998 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:46414998G>A ENST00000343801.4 + 3 962 c.605G>A c.(604-606)gGg>gAg p.G202E CCR5_ENST00000292303.4_Missense_Mutation_p.G202E|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.G202E NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 202 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) GTCATCTTGGGGCTGGTCCTG 0.458000 32 121 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100404 110100404 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110100404T>A ENST00000518632.1 + 2 1014 c.663T>A c.(661-663)aaT>aaA p.N221K TRHR_ENST00000311762.2_Missense_Mutation_p.N221K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 221 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTTTCTTAAATCCCATTCCTT 0.363000 8 30 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16513672 16513672 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:16513672T>C ENST00000502640.1 - 6 819 c.671A>G c.(670-672)aAc>aGc p.N224S RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.N224S|LDB2_ENST00000441778.2_Missense_Mutation_p.N224S|LDB2_ENST00000503178.2_Missense_Mutation_p.N100S|LDB2_ENST00000304523.5_Missense_Mutation_p.N224S O43679 LDB2_HUMAN LIM domain binding 2 224 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GGGACTGAGGTTGTAAGTTTT 0.463000 6 40 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904497 55904497 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55904497C>T ENST00000301529.1 - 1 697 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTTTTTCCTTCCTTCTGGTGA 0.378000 4 35 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918095 26918095 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:26918095C>T ENST00000539517.2 - 5 911 c.594G>A c.(592-594)atG>atA p.M198I NOVA1_ENST00000267422.7_Missense_Mutation_p.M76I|NOVA1_ENST00000465357.2_Missense_Mutation_p.M174I NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 201 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTGACTGCTCCATTACAGCCT 0.448000 7 85 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71029683 71029683 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71029683G>A ENST00000334414.6 - 2 263 c.219C>T c.(217-219)aaC>aaT p.N73N PTPRB_ENST00000550358.1_Silent_p.N73N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.N72N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. 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) CGCGGGAAGAGTTGGAGATGG 0.557000 3 25 0 0 1 0 0 PGBD4 161779 broad.mit.edu 37 15 34395661 34395661 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:34395661C>T ENST00000397766.2 + 1 1388 c.929C>T c.(928-930)tCa>tTa p.S310L NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 310 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) GGCCTGAAATCATCACGCATT 0.418000 13 50 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281957 125281957 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:125281957G>A ENST00000340750.1 + 1 538 c.538G>A c.(538-540)Gat>Aat p.D180N NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TTTCTTCTGTGATCTTGTTGC 0.502000 11 28 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66410237 66410237 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:66410237T>G ENST00000341567.4 + 3 689 c.434T>G c.(433-435)aTt>aGt p.I145S NM_017994.4 NP_060464.1 transmembrane protein 248 GGGCATCAGATTGGACTTTCA 0.478000 13 90 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158242619 158242619 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:158242619C>T ENST00000296526.7 + 6 1075 c.750C>T c.(748-750)atC>atT p.I250I GRIA2_ENST00000264426.9_Silent_p.I250I|GRIA2_ENST00000449365.1_Silent_p.I203I|GRIA2_ENST00000393815.2_Silent_p.I203I|GRIA2_ENST00000507898.1_Silent_p.I203I NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 250 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATTAAAAATCCAGTTTGGAG 0.333000 6 99 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072032 34072032 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:34072032G>A ENST00000254466.6 - 6 2511 c.2484C>T c.(2482-2484)tcC>tcT p.S828S GAS2L2_ENST00000587565.1_Silent_p.S812S NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 828 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CATCCACCCGGGATGCCTCCC 0.642000 15 63 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907600 164907600 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:164907600C>T ENST00000475390.1 - 2 1462 c.1019G>A c.(1018-1020)cGa>cAa p.R340Q SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340Q O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 340 integral to membrane p.R340L(1) 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 CCTTGGTGTTCGAGGCTGTTT 0.483000 HNSCC(40;0.11) 38 252 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222301810 222301810 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:222301810C>T ENST00000281821.2 - 12 2148 c.2107G>A c.(2107-2109)Gag>Aag p.E703K EPHA4_ENST00000409854.1_Missense_Mutation_p.E703K|EPHA4_ENST00000409938.1_Missense_Mutation_p.E703K|EPHA4_ENST00000392071.4_Missense_Mutation_p.E652K NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 703 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GAGCCATTCTCCATGTACTCT 0.373000 5 64 0 0 1 0 0 MS4A6E 245802 broad.mit.edu 37 11 60105331 60105331 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:60105331G>A ENST00000300182.4 + 2 330 c.265G>A c.(265-267)Gaa>Aaa p.E89K NM_139249.2 NP_640342.1 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 6E 89 integral to membrane receptor activity p.E89K(1) endometrium(2)|kidney(1)|lung(9)|stomach(1) 13 TAAGTTGGACGAAAAGGATAT 0.453000 9 85 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148857891 148857891 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:148857891C>T ENST00000296051.2 + 2 458 c.318C>T c.(316-318)atC>atT p.I106I HPS3_ENST00000460120.1_Intron NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 106 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GTGTGTGTATCCGAATGATTG 0.418000 Hermansky-Pudlak syndrome 30 124 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844242 106844242 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:106844242G>A ENST00000276185.4 + 16 3072 c.3072G>A c.(3070-3072)atG>atA p.M1024I Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1024 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGGCCAGCATGGGGAGGCCAG 0.547000 4 5 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37771400 37771400 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:37771400C>T ENST00000402918.1 - 3 960 c.175G>A c.(175-177)Gac>Aac p.D59N ELFN2_ENST00000349653.3_Missense_Mutation_p.D59N|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 59 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGCCGCAGGTCGTGCACGGTG 0.592000 7 29 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029524 219029524 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219029524C>T ENST00000295683.2 - 2 531 c.411G>A c.(409-411)ctG>ctA p.L137L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 137 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGACAATGGCCAGGTAACGGT 0.527000 7 34 0 0 1 0 0 ARG1 383 broad.mit.edu 37 6 131902433 131902433 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:131902433C>A ENST00000368087.3 + 4 519 c.380C>A c.(379-381)aCt>aAt p.T127N MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.T135N|ARG1_ENST00000476845.1_Missense_Mutation_p.T127N P05089 ARGI1_HUMAN arginase 1 127 Substrate binding. arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) GATGCTCACACTGATATCAAC 0.453000 7 37 1.12685e-05 1.1359e-05 1 1 0 PARVA 55742 broad.mit.edu 37 11 12518126 12518126 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:12518126C>T ENST00000334956.8 + 5 985 c.642C>T c.(640-642)agC>agT p.S214S PARVA_ENST00000538608.1_Silent_p.S121S|PARVA_ENST00000550549.1_Silent_p.S174S|PARVA_ENST00000539723.1_Silent_p.S174S NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 174 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) CTCCCAGGAGCATCAAGTGGA 0.488000 3 17 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993832 140993832 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140993832C>T ENST00000285879.4 + 4 928 c.642C>T c.(640-642)ttC>ttT p.F214F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 214 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTATTTTCCAGAGTTCCC 0.507000 HNSCC(15;0.026) 58 133 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756619 56756619 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56756619C>T ENST00000326855.2 + 1 273 c.231C>T c.(229-231)atC>atT p.I77I NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CTTCTGCTATCACTCCCAAGA 0.358000 8 47 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 860738 860738 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:860738G>A ENST00000316157.3 - 16 1913 c.1873C>T c.(1873-1875)Cct>Tct p.P625S LARP4B_ENST00000469487.1_5'UTR NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 625 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AGGGCGGAAGGAAGTCTGTCC 0.577000 3 7 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043419 117043419 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:117043419C>T ENST00000371876.1 - 4 3479 c.1058G>A c.(1057-1059)gGa>gAa p.G353E KLHL13_ENST00000539496.1_Missense_Mutation_p.G407E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G353E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G362E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G353E|KLHL13_ENST00000541812.1_Missense_Mutation_p.G388E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G404E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G388E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G353E Q9P2N7 KLH13_HUMAN kelch-like family member 13 404 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.G404E(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TGCCGTTTTTCCTTTTGTATC 0.433000 9 34 0 0 1 0 0 NTN5 126147 broad.mit.edu 37 19 49166724 49166724 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49166724G>A ENST00000270235.4 - 6 1196 c.1101C>T c.(1099-1101)gaC>gaT p.D367D SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 367 NTR. extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 ACTCACCATGGTCCTGCTGGC 0.547000 26 133 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499498 34499498 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:34499498G>A ENST00000538621.1 + 9 1404 c.1159G>A c.(1159-1161)Gga>Aga p.G387R PACSIN1_ENST00000244458.2_Missense_Mutation_p.G387R|PACSIN1_ENST00000374043.2_Missense_Mutation_p.G345R NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 387 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CGACTCCAAGGGAGTGCGCGT 0.657000 15 237 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141629991 141629991 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141629991G>A ENST00000546910.1 - 7 676 c.480C>T c.(478-480)aaC>aaT p.N160N CLEC5A_ENST00000551012.2_Silent_p.N137N|CLEC5A_ENST00000439991.1_Silent_p.N56N|MGAM_ENST00000497554.1_Intron NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 160 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TGGTCGCACAGTTGAAATTCT 0.393000 24 46 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50854619 50854619 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50854619G>A ENST00000395562.2 + 9 1403 c.934G>A c.(934-936)Gga>Aga p.G312R CHAT_ENST00000337653.2_Missense_Mutation_p.G394R|CHAT_ENST00000339797.1_Missense_Mutation_p.G276R|CHAT_ENST00000351556.3_Missense_Mutation_p.G276R|CHAT_ENST00000395559.2_Missense_Mutation_p.G276R|CHAT_ENST00000455728.2_Missense_Mutation_p.G276R NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 394 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGACGCGCCAGGAGGCGTGGA 0.637000 6 79 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99361517 99361517 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99361517C>T ENST00000354593.2 - 5 640 c.537G>A c.(535-537)caG>caA p.Q179Q CYP3A4_ENST00000336411.2_Silent_p.Q329Q P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 329 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CCTGCAGTTTCTGCTGGACAT 0.453000 8 46 0 0 1 0 0 NUBPL 80224 broad.mit.edu 37 14 32328366 32328366 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:32328366T>C ENST00000281081.7 + 11 985 c.940T>C c.(940-942)Ttg>Ctg p.L314L NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Silent_p.L218L NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 314 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) GGTAAGAAGATTGCCATCACC 0.418000 3 32 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44663604 44663604 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:44663604G>A ENST00000454036.1 + 2 215 c.139G>A c.(139-141)Gaa>Aaa p.E47K SLC12A5_ENST00000372315.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000539566.1_Missense_Mutation_p.E24K|SLC12A5_ENST00000243964.3_Missense_Mutation_p.E24K NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 47 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAACCCCAAGGAAAGCAGTCC 0.542000 8 102 0 0 1 0 0 RP11-125O5.2 0 broad.mit.edu 37 12 21207553 21207553 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:21207553T>C ENST00000590779.1 + 1 26 c.26T>C c.(25-27)aTt>aCt p.I9T LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.Y555Y|LST3_ENST00000381541.3_Silent_p.Y555Y|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.Y508Y TTACCTCATATTCCGTGCTGG 0.338000 6 25 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54911374 54911374 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54911374C>T ENST00000293373.6 + 12 1232 c.1153C>T c.(1153-1155)Cgc>Tgc p.R385C NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R335C NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 385 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CTGGCTGGTTCGCCACACAGA 0.458000 4 53 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324854 150324854 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150324854C>T ENST00000328902.5 - 3 1048 c.832G>A c.(832-834)Gaa>Aaa p.E278K GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 278 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCTCAGATTCCTTCTGGATC 0.572000 8 82 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825580 4825580 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4825580G>A ENST00000380382.1 - 1 267 c.268C>T c.(268-270)Cat>Tat p.H90Y MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.H11Y|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GACACAGGATGAGAAGAGCTG 0.498000 6 37 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101342042 101342042 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:101342042G>A ENST00000344327.3 - 9 2705 c.2281C>T c.(2281-2283)Cct>Tct p.P761S TRPC6_ENST00000360497.4_Missense_Mutation_p.P706S|TRPC6_ENST00000532133.1_Missense_Mutation_p.P683S|TRPC6_ENST00000348423.4_Missense_Mutation_p.P645S NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 761 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AAGGGTACAGGAAGTGTTCTG 0.438000 9 86 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641608 179641608 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179641608G>A ENST00000589042.1 - 28 5207 c.4983C>T c.(4981-4983)atC>atT p.I1661I TTN_ENST00000460472.2_Silent_p.I1615I|TTN_ENST00000359218.5_Silent_p.I1615I|TTN_ENST00000591111.1_Silent_p.I1661I|TTN_ENST00000360870.5_Silent_p.I1661I|TTN_ENST00000342175.6_Silent_p.I1615I|TTN_ENST00000342992.6_Silent_p.I1661I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1405 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) CCCGTGGGATGATTAACTTTC 0.468000 7 52 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34052159 34052159 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34052159C>T ENST00000373381.4 - 46 7172 c.6996G>A c.(6994-6996)ctG>ctA p.L2332L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2334 Sushi 13. integral to membrane|plasma membrane protein binding p.L2334L(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTTTGCAGGTCAGAATTTCAT 0.493000 14 74 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555058 76555058 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:76555058C>T ENST00000307431.8 + 17 2769 c.2384C>T c.(2383-2385)tCc>tTc p.S795F CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S799F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S723F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S747F|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 796 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AATTCAGCTTCCTTTGATACC 0.328000 17 101 0 0 1 0 0 CSAG1 158511 broad.mit.edu 37 X 151909177 151909177 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151909177A>C ENST00000370287.3 + 5 534 c.206A>C c.(205-207)aAg>aCg p.K69T CSAG1_ENST00000370291.2_3'UTR|CSAG1_ENST00000452779.2_Missense_Mutation_p.K69T NM_153478.1 NP_705611.1 Q6PB30 CSAG1_HUMAN chondrosarcoma associated gene 1 69 central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGACCCGTCAAGGAAGTTCCA 0.542000 19 70 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102487583 102487583 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102487583G>A ENST00000260228.2 - 2 346 c.334C>T c.(334-336)Cct>Tct p.P112S RP11-817J15.2_ENST00000542119.1_RNA NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 112 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GGTTCACCAGGGAAGAGGCGA 0.443000 4 33 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21014518 21014518 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21014518C>T ENST00000261383.3 - 42 6033 c.6034G>A c.(6034-6036)Gat>Aat p.D2012N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2012 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D2012N(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAATAAAAATCATAGATGCTT 0.393000 6 79 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6964358 6964358 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6964358A>C ENST00000278319.5 + 5 1116 c.528A>C c.(526-528)gaA>gaC p.E176D ZNF215_ENST00000527171.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.E176D|ZNF215_ENST00000529903.1_Missense_Mutation_p.E176D NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 176 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TCAGCAAGGAAGAGTGGGGGC 0.413000 19 116 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15131315 15131315 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15131315G>A ENST00000292574.3 + 3 800 c.718G>A c.(718-720)Gag>Aag p.E240K NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 240 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CTGCTTCAAGGAGCGGCTCCA 0.612000 8 20 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168282156 168282156 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:168282156G>A ENST00000367821.3 + 8 1314 c.1263G>A c.(1261-1263)tgG>tgA p.W421* TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 421 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TGTCCACCTGGACAGCAGTGG 0.627000 5 42 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9525066 9525066 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:9525066G>A ENST00000378429.3 - 9 2365 c.1819C>T c.(1819-1821)Ccc>Tcc p.P607S PAK7_ENST00000353224.5_Missense_Mutation_p.P607S|PAK7_ENST00000378423.1_Missense_Mutation_p.P607S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 607 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) ATCCAGTAGGGAGTGCCAACC 0.498000 22 106 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118530 4118530 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:4118530G>A ENST00000324333.10 - 3 676 c.483C>T c.(481-483)ttC>ttT p.F161F GLIS3_ENST00000381971.3_Silent_p.F316F NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 161 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TGATGGTATTGAAATCTATCC 0.637000 8 58 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125015499 125015499 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:125015499G>A ENST00000522917.1 + 13 1818 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K FER1L6_ENST00000399018.1_Missense_Mutation_p.E538K|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 538 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACTGCTTCACGAAGGGCAAGG 0.517000 6 62 0 0 1 0 0 LEFTY2 7044 broad.mit.edu 37 1 226128681 226128681 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:226128681G>A ENST00000366820.5 - 1 508 c.160C>T c.(160-162)Ccc>Tcc p.P54S LEFTY2_ENST00000420304.2_Missense_Mutation_p.P54S NM_003240.3 NP_003231.2 O00292 LFTY2_HUMAN left-right determination factor 2 54 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) ACGTGGGCGGGGATGACCAGC 0.682000 8 48 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13717501 13717501 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13717501A>G ENST00000265104.4 - 73 12732 c.12628T>C c.(12628-12630)Tac>Cac p.Y4210H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4210 AAA 6 (By similarity). 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) TTAAATTCGTAGGGGATATTC 0.542000 Kartagener syndrome 9 33 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238005 31238005 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31238005G>A ENST00000383329.3 - 4 891 c.877C>T c.(877-879)Ccc>Tcc p.P293S HLA-C_ENST00000376228.5_Missense_Mutation_p.P293S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 293 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 AGGGTGAGGGGCTCTTGCAGC 0.582000 7 119 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132403493 132403493 + Nonsense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:132403493C>A ENST00000337331.5 - 24 3561 c.3475G>T c.(3475-3477)Gaa>Taa p.E1159* NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 1159 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AAAGCTCTTTCATAAAGTTCT 0.403000 8 24 1.12685e-05 1.1359e-05 1 1 0 SULT2B1 6820 broad.mit.edu 37 19 49090503 49090503 + Missense_Mutation SNP G G A rs140526640 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49090503G>A ENST00000323090.4 + 2 562 c.187G>A c.(187-189)Gag>Aag p.E63K SULT2B1_ENST00000201586.2_Missense_Mutation_p.E78K NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 78 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 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;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CTGGATGATCGAGATCATCTG 0.527000 13 43 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66100136 66100136 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:66100136G>A ENST00000311320.4 - 10 2089 c.1963C>T c.(1963-1965)Ctg>Ttg p.L655L RIN1_ENST00000530056.1_Silent_p.L489L|RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Silent_p.L550L NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 655 Ras and 14-3-3 protein binding region.|Ras-associating. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 AGCTGGTTCAGGGTGGCAATC 0.627000 28 136 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480513 140480513 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140480513G>A ENST00000231130.2 + 1 280 c.280G>A c.(280-282)Gag>Aag p.E94K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 94 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCGGGAGGAGCTATGCGG 0.468000 13 84 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540348 55540348 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55540348C>T ENST00000220676.1 + 4 4054 c.3906C>T c.(3904-3906)gtC>gtT p.V1302V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1302 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGGAGAGGTCTGTTCACTTA 0.433000 14 118 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138698587 138698587 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:138698587C>T ENST00000520602.1 - 12 1510 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K MCF2_ENST00000414978.1_Missense_Mutation_p.E409K|MCF2_ENST00000370573.4_Missense_Mutation_p.E349K|MCF2_ENST00000370576.4_Missense_Mutation_p.E349K|MCF2_ENST00000370578.4_Missense_Mutation_p.E494K|MCF2_ENST00000338585.6_Missense_Mutation_p.E349K|MCF2_ENST00000536274.1_Missense_Mutation_p.E310K|MCF2_ENST00000519895.1_Missense_Mutation_p.E409K P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 349 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTATCTATTTCCTGATTAGCT 0.323000 4 37 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340899 55340899 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55340899C>T ENST00000391728.4 + 7 1117 c.1084C>T c.(1084-1086)Ctc>Ttc p.L362F KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L267F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L345F|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L362F|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L345F NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.L362I(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) tctccttcatctcTGGTGCTC 0.532000 6 67 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286458 152286458 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152286458C>T ENST00000368799.1 - 3 939 c.904G>A c.(904-906)Gac>Aac p.D302N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 302 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTCACTGTCCCTGTCCTGG 0.522000 Ichthyosis 58 245 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42961028 42961028 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42961028G>A ENST00000426333.2 - 5 712 c.415C>T c.(415-417)Cac>Tac p.H139Y EFTUD2_ENST00000592576.1_Missense_Mutation_p.H139Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.H139Y|EFTUD2_ENST00000402521.3_Missense_Mutation_p.H104Y NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 139 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TTGCCATGGTGGAGATGTCCA 0.443000 14 56 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125899 58125899 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58125899G>A ENST00000357377.3 - 1 643 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S215F(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACAGATAGGAAATCAAGGT 0.373000 8 38 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45108503 45108503 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:45108503C>T ENST00000429094.2 - 10 1520 c.1016G>A c.(1015-1017)cGa>cAa p.R339Q NELL2_ENST00000551601.1_Missense_Mutation_p.R338Q|NELL2_ENST00000549027.1_Missense_Mutation_p.R338Q|NELL2_ENST00000437801.2_Missense_Mutation_p.R389Q|NELL2_ENST00000333837.4_Missense_Mutation_p.R362Q|NELL2_ENST00000395487.2_Missense_Mutation_p.R338Q|NELL2_ENST00000452445.2_Missense_Mutation_p.R339Q NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 339 VWFC 2. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AAAGTAGGTTCGTCCTTGAAA 0.348000 3 34 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275491 130275491 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:130275491C>T ENST00000257359.6 - 9 3338 c.2632G>A c.(2632-2634)Gat>Aat p.D878N NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 878 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGCTTGGCATCCTCGGGTTTC 0.652000 11 72 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157475444 157475444 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:157475444T>G ENST00000389413.3 - 12 1990 c.1887A>C c.(1885-1887)ccA>ccC p.P629P PTPRN2_ENST00000409483.1_Silent_p.P620P|PTPRN2_ENST00000389418.4_Silent_p.P658P|PTPRN2_ENST00000404321.2_Silent_p.P681P|PTPRN2_ENST00000389416.4_Silent_p.P641P NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 658 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CATCTGCACCTGGGTCGCCCC 0.557000 14 147 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481154 140481154 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140481154G>A ENST00000231130.2 + 1 921 c.921G>A c.(919-921)ttG>ttA p.L307L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 307 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAATATTTGAATTTTGAAG 0.393000 6 31 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71880335 71880335 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:71880335G>A ENST00000307864.1 - 5 648 c.435C>T c.(433-435)atC>atT p.I145I AIFM2_ENST00000373248.1_Silent_p.I145I NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 145 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CCACCACCACGATGAACCGTG 0.542000 10 89 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011946 73011946 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:73011946G>A ENST00000313375.3 - 9 1216 c.1169C>T c.(1168-1170)cCt>cTt p.P390L MLXIPL_ENST00000354613.1_Missense_Mutation_p.P390L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P390L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P297L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P390L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P297L NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 390 Poly-Pro. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TGGGGGTACAGGAGGGGGTGG 0.667000 5 8 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142225965 142225965 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:142225965G>A ENST00000519067.1 - 6 1984 c.1681C>T c.(1681-1683)Ccc>Tcc p.P561S SLC45A4_ENST00000024061.3_Missense_Mutation_p.P561S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P612S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P554S Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 612 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TAGACGTTGGGAAACATGGCC 0.577000 6 49 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95186402 95186402 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:95186402G>A ENST00000027335.3 - 6 635 c.511C>T c.(511-513)Ctt>Ttt p.L171F CDH17_ENST00000450165.2_Missense_Mutation_p.L171F|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 171 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) ATCATGGGAAGCTGGATGACA 0.483000 24 144 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215813 130215813 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130215813G>A ENST00000276211.5 + 2 519 c.174G>A c.(172-174)ctG>ctA p.L58L ARHGAP36_ENST00000370922.1_Silent_p.L46L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 58 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCTCTGAGCTGGAGCGTCTGA 0.532000 41 92 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240977013 240977013 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:240977013C>T ENST00000366565.1 - 13 1242 c.861G>A c.(859-861)acG>acA p.T287T RGS7_ENST00000366562.4_Silent_p.T287T|RGS7_ENST00000407727.1_Silent_p.T287T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000331110.7_Silent_p.T261T|RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 287 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.T287T(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) AATACTGTTCCGTGTAACTTA 0.433000 5 25 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97800978 97800978 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:97800978C>T ENST00000297293.5 + 7 1076 c.783C>T c.(781-783)ttC>ttT p.F261F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 261 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGCTGCACTTCCTGCACAGGT 0.657000 10 47 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176636777 176636777 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:176636777C>T ENST00000439151.2 + 5 1422 c.1377C>T c.(1375-1377)gaC>gaT p.D459D NSD1_ENST00000361032.4_Silent_p.D356D|NSD1_ENST00000354179.4_Silent_p.D190D|NSD1_ENST00000347982.4_Silent_p.D190D NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 459 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) CATTTGAAGACTGCACAAATG 0.413000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 19 60 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382656 22382656 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:22382656T>C ENST00000328795.4 + 1 275 c.184T>C c.(184-186)Ttt>Ctt p.F62L RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCTCTATTTATTTCTGGGCAA 0.458000 7 172 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594433 179594433 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179594433C>T ENST00000589042.1 - 63 18771 c.18547G>A c.(18547-18549)Gac>Aac p.D6183N TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5866N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4939N|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5866 Ig-like 43. 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) GTGCCTGCGTCATTTCGAGCT 0.458000 28 98 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203543 56203543 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:56203543T>G ENST00000361673.3 - 5 4089 c.3876A>C c.(3874-3876)gaA>gaC p.E1292D RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1292 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATGCTGCTATTTCAGAGGGGG 0.512000 13 114 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102650354 102650354 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102650354C>T ENST00000279441.4 - 2 264 c.228G>A c.(226-228)ggG>ggA p.G76G NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 76 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGTCTAGCTTCCCTGTCACCT 0.483000 3 28 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869565 140869565 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140869565A>T ENST00000252087.1 + 1 758 c.758A>T c.(757-759)gAg>gTg p.E253V PCDHGC3_ENST00000308177.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 253 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAATCCCAGAGAATGCACCC 0.527000 14 183 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570256 61570256 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61570256C>T ENST00000457692.1 + 9 1298 c.965C>T c.(964-966)tCc>tTc p.S322F SERPINB2_ENST00000299502.4_Missense_Mutation_p.S322F NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 322 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GAACTCAGATCCATTCTGAGA 0.453000 10 71 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191635 66191635 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:66191635C>T ENST00000311034.2 + 7 1450 c.1274C>T c.(1273-1275)cCt>cTt p.P425L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 425 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TGCACTCCACCTTACACGCCC 0.552000 16 165 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176845732 176845732 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176845732C>T ENST00000367654.2 - 21 3441 c.3428G>A c.(3427-3429)aGg>aAg p.R1143K ASTN1_ENST00000424564.2_Missense_Mutation_p.R1135K|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1135K|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1135K O14525 ASTN1_HUMAN astrotactin 1 1143 Fibronectin type-III 1. 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 GTCGCTTGGCCTGGAGCGCCG 0.572000 5 52 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76124553 76124553 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:76124553C>T ENST00000393004.2 - 2 357 c.136G>A c.(136-138)Gag>Aag p.E46K FILIP1_ENST00000237172.7_Missense_Mutation_p.E46K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 46 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACATCATCCTCCTTCCTATTT 0.423000 26 168 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130460844 130460844 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:130460844C>T ENST00000529410.1 + 25 2768 c.2289C>T c.(2287-2289)ttC>ttT p.F763F RP11-73O6.3_ENST00000415964.1_RNA|L3MBTL3_ENST00000368136.2_Silent_p.F763F|L3MBTL3_ENST00000361794.2_Silent_p.F763F|L3MBTL3_ENST00000368139.2_Silent_p.F738F|L3MBTL3_ENST00000533560.1_Silent_p.F738F|L3MBTL3_ENST00000526019.1_Silent_p.F738F Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 763 SAM. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCAAAATTTTCAATTCCATCC 0.363000 9 43 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27135119 27135119 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:27135119G>A ENST00000343060.4 - 1 474 c.413C>T c.(412-414)cCc>cTc p.P138L HOXA1_ENST00000355633.5_Intron NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 138 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTGGACCATGGGAGATGAGAG 0.577000 6 79 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332367 70332367 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:70332367G>A ENST00000338508.4 - 32 4033 c.4034C>T c.(4033-4035)tCg>tTg p.S1345L SHANK2_ENST00000409161.1_Missense_Mutation_p.S748L|SHANK2_ENST00000423696.2_Missense_Mutation_p.S965L|SHANK2_ENST00000449833.2_Missense_Mutation_p.S749L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 965 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.S1345*(1)|p.S749*(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTCGGACGGCGAGCTGTCTGG 0.632000 7 59 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851757 43851757 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43851757C>T ENST00000372769.3 + 2 1574 c.1484C>T c.(1483-1485)tCt>tTt p.S495F NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 495 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AGCAGTATTTCTTTCCAAATT 0.383000 11 37 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920056 4920056 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:4920056C>T ENST00000433855.1 + 1 1715 c.849C>T c.(847-849)tcC>tcT p.S283S KCNA6_ENST00000280684.3_Silent_p.S283S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 283 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGCGCTTCTCCGCCTGCCCTA 0.547000 HNSCC(72;0.22) 12 93 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143020464 143020464 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143020464C>T ENST00000343257.2 + 6 846 c.759C>T c.(757-759)ttC>ttT p.F253F CLCN1_ENST00000495612.1_Intron NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 253 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGTCTGTGTTCTGCGGGGTAT 0.607000 8 75 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315789 30315789 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:30315789C>T ENST00000375377.1 - 3 3389 c.3288G>A c.(3286-3288)gtG>gtA p.V1096V NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1096 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGAGGGACTCCACCGCCACCT 0.612000 27 125 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246584 80246584 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:80246584C>T ENST00000286794.4 - 1 620 c.448G>A c.(448-450)Gat>Aat p.D150N NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 150 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 TGCGAGAGATCCCGCTTCATA 0.522000 10 44 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595719 82595719 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82595719G>A ENST00000423517.2 - 4 3722 c.3385C>T c.(3385-3387)Cca>Tca p.P1129S PCLO_ENST00000333891.8_Missense_Mutation_p.P1129S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1068 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTCCTGATGGTGCAGGTGGC 0.423000 6 53 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41115513 41115513 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:41115513A>G ENST00000308370.7 + 13 1705 c.1705A>G c.(1705-1707)Acc>Gcc p.T569A LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.T22A|LTBP4_ENST00000396819.3_Missense_Mutation_p.T502A|LTBP4_ENST00000204005.9_Missense_Mutation_p.T532A NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 569 Cys-rich.|EGF-like 3. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGCGGCTACACCTGCGCTTG 0.706000 17 64 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029430 68029430 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68029430C>T ENST00000304271.6 - 4 1435 c.1033G>A c.(1033-1035)Gag>Aag p.E345K C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 345 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 TCTACCTGCTCCGGTGCCTGG 0.637000 5 53 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43508592 43508592 + Splice_Site SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:43508592T>C ENST00000400427.1 + 5 970 c.e5+2 UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AGGTGCAAGGTTGGGCTTCCC 0.582000 3 18 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854297 12854297 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12854297G>A ENST00000332296.7 + 3 624 c.521G>A c.(520-522)aGg>aAg p.R174K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 174 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTTACCAAAGGAGAGGTTTA 0.413000 44 332 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473201 53473201 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53473201G>A ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA ACATTTGTACGGTTTCTCTCC 0.388000 12 55 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848526 73848526 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:73848526G>A ENST00000523207.1 + 3 1524 c.936G>A c.(934-936)ctG>ctA p.L312L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 312 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) TCAGGATCCTGAAACTCGCCA 0.522000 9 56 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518303 113518303 + Silent SNP C C T rs150965727 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:113518303C>T ENST00000284601.3 - 4 2912 c.2844G>A c.(2842-2844)acG>acA p.T948T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 948 glycogen metabolic process integral to membrane p.T948T(3) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTCTGATTTCGTAGAAATAG 0.378000 7 67 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940098 22940098 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:22940098G>A ENST00000397104.3 - 6 2232 c.2233C>T c.(2233-2235)Ccc>Tcc p.P745S 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) CATTTGTAGGGTTTCTTTCCA 0.348000 6 45 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183111824 183111824 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:183111824C>T ENST00000258341.4 + 28 4986 c.4729C>T c.(4729-4731)Cga>Tga p.R1577* NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1577 Domain II and I. 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) GGACTATAACCGAGATATCGA 0.478000 7 46 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409243 56409243 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56409243G>A ENST00000544374.1 - 1 704 c.676C>T c.(676-678)Ctg>Ttg p.L226L OR5AP2_ENST00000302981.1_Silent_p.L225L Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 225 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 AAGATACACAGGTAGGAAATG 0.448000 22 120 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38997933 38997933 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38997933G>A ENST00000359357.3 + 91 13492 c.13238G>A c.(13237-13239)cGg>cAg p.R4413Q DNAH8_ENST00000441566.1_Missense_Mutation_p.R4377Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGGACAGACGGAATGGGAAG 0.483000 OREG0017409 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 76 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137374655 137374655 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:137374655C>T ENST00000424189.2 - 2 724 c.495G>A c.(493-495)gcG>gcA p.A165A DGKI_ENST00000288490.5_Silent_p.A165A|DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Silent_p.A165A O75912 DGKI_HUMAN diacylglycerol kinase, iota 165 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AGTCCAAAGTCGCTCTGGGCT 0.522000 4 53 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 157999217 157999217 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:157999217C>T ENST00000264428.4 + 2 311 c.41C>T c.(40-42)tCc>tTc p.S14F GLRB_ENST00000541722.1_Missense_Mutation_p.S14F|GLRB_ENST00000509282.1_Missense_Mutation_p.S14F|GLRB_ENST00000512619.1_Missense_Mutation_p.S14F NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 14 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) ATTTTAATTTCCTTGTGGGTG 0.338000 9 30 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133196597 133196597 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:133196597G>A ENST00000388996.4 - 3 915 c.495C>T c.(493-495)ttC>ttT p.F165F KCNQ3_ENST00000519445.1_Silent_p.F165F|KCNQ3_ENST00000521134.1_Silent_p.F45F NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 165 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTCCAAAGATGAAAATAGCAA 0.512000 14 95 0 0 1 0 0 TMCO2 127391 broad.mit.edu 37 1 40713878 40713878 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:40713878G>A ENST00000372766.3 + 1 306 c.213G>A c.(211-213)tgG>tgA p.W71* TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 71 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATGCCTTATGGAAACGAAGTA 0.318000 32 95 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148678 34148678 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:34148678G>A ENST00000346193.3 - 1 1769 c.1718C>T c.(1717-1719)cCc>cTc p.P573L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 573 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TCGAATCTTGGGAGGCTCCGA 0.517000 8 29 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43862495 43862495 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:43862495T>C ENST00000389420.3 - 8 1130 c.1131A>G c.(1129-1131)ttA>ttG p.L377L ADAMTS20_ENST00000553158.1_Silent_p.L377L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 377 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ATATGGTACCTAAATATGATA 0.313000 7 39 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823557 38823557 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:38823557G>A ENST00000303592.3 - 2 839 c.581C>T c.(580-582)tCg>tTg p.S194L NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 194 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTCGCGCACCGAAATGACCGC 0.632000 3 38 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196621010 196621010 + Splice_Site SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196621010C>A ENST00000312428.6 - 62 11534 c.e62-1 DNAH7_ENST00000409063.1_Splice_Site NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGCAAGCCCCTGAAACACAT 0.348000 5 64 0.014758 0.0147921 1 1 0 CDADC1 81602 broad.mit.edu 37 13 49852543 49852543 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:49852543C>T ENST00000251108.6 + 7 1221 c.1108C>T c.(1108-1110)Cct>Tct p.P370S CDADC1_ENST00000444959.1_Missense_Mutation_p.P172S NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 370 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) CAATGCTTTTCCTGTTGGATC 0.413000 31 166 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34513169 34513169 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:34513169G>A ENST00000242317.4 + 16 1720 c.1549G>A c.(1549-1551)Gag>Aag p.E517K NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 517 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AGTGGGCACAGAGGAGGGAAA 0.532000 Kartagener syndrome 9 88 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128851780 128851780 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:128851780G>A ENST00000310343.9 - 15 1535 c.1536C>T c.(1534-1536)tcC>tcT p.S512S ARHGAP32_ENST00000524655.1_Silent_p.S438S|ARHGAP32_ENST00000392657.3_Silent_p.S163S|ARHGAP32_ENST00000527272.1_Silent_p.S163S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 512 Rho-GAP. 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 TATTTGTGATGGAACAATAGT 0.338000 5 57 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104165167 104165167 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:104165167C>T ENST00000020673.5 - 12 2788 c.2262G>A c.(2260-2262)ggG>ggA p.G754G PSD_ENST00000406432.1_Silent_p.G754G NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 754 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGACGGCAGCCCCAGGCTCGG 0.662000 22 134 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89349846 89349846 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:89349846T>G ENST00000301030.4 - 9 3564 c.3104A>C c.(3103-3105)aAg>aCg p.K1035T ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1035T NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1035 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ACTTTTGTCCTTGTCACTGGA 0.393000 10 66 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45972932 45972932 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:45972932G>A ENST00000348697.2 + 19 2063 c.1916G>A c.(1915-1917)gGg>gAg p.G639E FBLN1_ENST00000327858.6_Missense_Mutation_p.G639E P23142 FBLN1_HUMAN fibulin 1 639 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATCACGGAAGGGAACCTGCGG 0.572000 9 61 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395895 47395895 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47395895G>A ENST00000310638.4 - 12 1483 c.1452C>T c.(1450-1452)ccC>ccT p.P484P CYP4A11_ENST00000371904.4_Silent_p.P485P|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 484 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.P484P(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGATCCTGGTGGGATCAGGCA 0.567000 34 131 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498736 179498736 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179498736C>T ENST00000589042.1 - 231 42714 c.42490G>A c.(42490-42492)Gaa>Aaa p.E14164K TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5099K|TTN_ENST00000359218.5_Missense_Mutation_p.E5224K|TTN_ENST00000591111.1_Missense_Mutation_p.E12523K|TTN_ENST00000342175.6_Missense_Mutation_p.E5291K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11596K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12523 Fibronectin type-III 2. 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) TGAGAAAGTTCACAAACAAAA 0.373000 9 106 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628425 51628425 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51628425G>A ENST00000440804.3 + 1 261 c.194G>A c.(193-195)gGg>gAg p.G65E SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G65E NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 65 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TTCCGGGAAGGGGCCAATACA 0.602000 6 72 0 0 1 0 0 IGKV3-20 28912 broad.mit.edu 37 2 89442310 89442310 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:89442310G>A ENST00000492167.1 - 0 146 TGGAGACAAAGACAGGGTGCC 0.507000 20 78 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354893 77354893 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:77354893C>T ENST00000451710.3 - 33 5482 c.5245G>A c.(5245-5247)Gag>Aag p.E1749K TRPM6_ENST00000449912.2_Missense_Mutation_p.E1740K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E582K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1745K|TRPM6_ENST00000376872.3_Missense_Mutation_p.E700K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E1740K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1749K Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1745 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGGGAACTCTCCTCCAACCTG 0.463000 12 35 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071878 73071878 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73071878C>T ENST00000429829.1 - 0 710 NR_001564.2 ATCCGCGGCCCCGATGGGCCA 0.443000 5 14 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455760 72455760 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:72455760G>A ENST00000309731.7 - 10 816 c.803C>T c.(802-804)cCa>cTa p.P268L GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 268 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 ACCCCAGCCTGGCATGGGCCA 0.532000 12 123 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185020 130185020 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:130185020G>A ENST00000422113.2 - 2 629 c.303C>T c.(301-303)tcC>tcT p.S101S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 101 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTGCTCGATGGAGAAAGGCC 0.488000 4 55 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149479958 149479958 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:149479958G>A ENST00000378016.2 + 0 1924 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAATGGGCAGGATGTGGGCTT 0.652000 8 36 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092619 151092619 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151092619G>A ENST00000370335.1 + 3 750 c.483G>A c.(481-483)atG>atA p.M161I MAGEA4_ENST00000276344.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000393920.1_Missense_Mutation_p.M161I|MAGEA4_ENST00000393921.1_Missense_Mutation_p.M161I|MAGEA4_ENST00000360243.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000370337.4_Missense_Mutation_p.M161I|MAGEA4_ENST00000370340.3_Missense_Mutation_p.M161I P43358 MAGA4_HUMAN melanoma antigen family A, 4 161 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCCTGAAGATGATCTTTGGCA 0.517000 11 104 0 0 1 0 0 ALG11 440138 broad.mit.edu 37 13 52602476 52602476 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:52602476C>T ENST00000521508.1 + 4 1234 c.1229C>T c.(1228-1230)gCt>gTt p.A410V ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Silent_p.S22S NM_001004127.2 NP_001004127.2 ALG11, alpha-1,2-mannosyltransferase endometrium(1)|large_intestine(6)|lung(4)|ovary(2) 13 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.44e-08) TGTATGGCAGCTGGCACAATT 0.408000 8 74 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73615898 73615898 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:73615898G>A ENST00000261917.3 - 8 3529 c.2536C>T c.(2536-2538)Ccg>Tcg p.P846S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 846 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) ACCTGGGACGGGCTGCTGGCG 0.667000 23 113 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47702402 47702402 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:47702402C>T ENST00000406134.1 + 12 2060 c.1998C>T c.(1996-1998)atC>atT p.I666I MSH2_ENST00000543555.1_Silent_p.I600I|MSH2_ENST00000233146.2_Silent_p.I666I P43246 MSH2_HUMAN mutS homolog 2 666 Interaction with EXO1. B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTTCCACATCATTACTGGTA 0.294000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 50 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561816 142561816 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142561816G>A ENST00000392957.2 + 7 1045 c.258G>A c.(256-258)caG>caA p.Q86Q EPHB6_ENST00000442129.1_Silent_p.Q86Q|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 86 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GCACCGGGCAGGACAATTGGT 0.637000 26 258 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111155560 111155560 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:111155560G>A ENST00000262839.2 - 3 1777 c.859C>T c.(859-861)Ctg>Ttg p.L287L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 287 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 AACTTGGCCAGGTCATGGTAC 0.517000 17 92 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43412875 43412875 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43412875C>T ENST00000244533.3 + 12 3128 c.2769C>T c.(2767-2769)ttC>ttT p.F923F ABCC10_ENST00000372530.4_Silent_p.F951F NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 951 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCCAGTGTTCCCACTGCCCA 0.592000 13 92 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38417672 38417672 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:38417672G>A ENST00000207870.3 + 13 1159 c.1069G>A c.(1069-1071)Gat>Aat p.D357N XYLB_ENST00000542835.1_Missense_Mutation_p.D220N NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 357 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TTCCTGGAGCGATTTCTCTAA 0.567000 12 131 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6913826 6913826 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6913826C>T ENST00000312053.4 + 11 1322 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W EMR1_ENST00000450315.3_Missense_Mutation_p.R252W|EMR1_ENST00000250572.8_Missense_Mutation_p.R429W|EMR1_ENST00000381407.5_Missense_Mutation_p.R288W|EMR1_ENST00000381404.4_Missense_Mutation_p.R377W NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 429 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity 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) TCCGGCTGTTCGGACGGAATA 0.498000 15 143 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38409517 38409517 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:38409517G>A ENST00000373023.2 - 4 294 c.201C>T c.(199-201)gtC>gtT p.V67V INPP5B_ENST00000373026.1_Silent_p.V67V|INPP5B_ENST00000373021.1_Silent_p.V67V|INPP5B_ENST00000373024.3_Silent_p.V67V NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 67 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) GGTCCAGAGAGACATCGTCCC 0.607000 9 96 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31362362 31362362 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:31362362C>T ENST00000542188.1 - 3 515 c.202G>A c.(202-204)Gaa>Aaa p.E68K TRPM1_ENST00000559179.1_Missense_Mutation_p.E29K|TRPM1_ENST00000256552.6_Missense_Mutation_p.E51K|TRPM1_ENST00000397795.2_Missense_Mutation_p.E29K NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 29 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTTTCCTCTTCATTTTTGCTG 0.493000 76 323 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30522560 30522560 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30522560G>A ENST00000375934.4 + 10 830 c.776G>A c.(775-777)tGg>tAg p.W259* TTLL9_ENST00000535842.1_Silent_p.V291V|TTLL9_ENST00000375922.4_Silent_p.V233V|TTLL9_ENST00000310998.4_Silent_p.V256V|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000375938.4_Silent_p.V291V Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 0 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCGAGGCAGTGGAGACACTCT 0.607000 7 64 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35255046 35255046 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:35255046G>A ENST00000360310.1 - 14 2335 c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C BAZ1A_ENST00000382422.2_Missense_Mutation_p.R590C|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R558C NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 590 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTGCTCAAACGAAGCTCCATA 0.418000 13 54 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285466 238285466 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:238285466G>A ENST00000295550.4 - 7 3471 c.3019C>T c.(3019-3021)Cca>Tca p.P1007S COL6A3_ENST00000472056.1_Missense_Mutation_p.P400S|COL6A3_ENST00000392004.3_Missense_Mutation_p.P801S|COL6A3_ENST00000392003.2_Missense_Mutation_p.P600S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P801S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P806S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P801S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P807S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1007 Nonhelical region.|VWFA 5. 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) ACTATCTGTGGATGAAGATCT 0.493000 27 177 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31424225 31424225 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:31424225G>A ENST00000389202.2 + 15 1823 c.1774G>A c.(1774-1776)Gac>Aac p.D592N NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 592 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGGGGGTCAGGACCTCACCCA 0.652000 8 79 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134117698 134117698 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:134117698C>T ENST00000452510.2 + 8 1125 c.967C>T c.(967-969)Cat>Tat p.H323Y DDX46_ENST00000354283.4_Missense_Mutation_p.H323Y NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 323 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACCAGTTGATCATGGAAAAAT 0.343000 4 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179446711 179446711 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179446711G>A ENST00000589042.1 - 315 66609 c.66385C>T c.(66385-66387)Cgt>Tgt p.R22129C TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13064C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13189C|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R20488C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13256C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19561C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20488 Fibronectin type-III 60. 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) GCTGTAACACGGAACTCATAT 0.448000 9 89 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40662159 40662159 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:40662159C>T ENST00000267889.3 + 8 3933 c.3846C>T c.(3844-3846)ttC>ttT p.F1282F NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1282 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) CTGATGGCTTCTGTTCCTCAG 0.632000 7 45 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49763594 49763594 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:49763594C>T ENST00000249601.4 - 3 532 c.234_splice c.e3-1 p.G79_splice ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Splice_Site_p.G79_splice|ARHGAP22_ENST00000435790.2_Splice_Site_p.G85_splice NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 79 PH. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGAAATAAATCCCTAAAAAGG 0.567000 10 49 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28443892 28443892 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:28443892G>A ENST00000261609.7 - 49 7848 c.7740C>T c.(7738-7740)tgC>tgT p.C2580C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2580 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CATACGCTCGGCAGCATCTAA 0.438000 9 87 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57323229 57323229 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:57323229C>T ENST00000293502.1 - 3 812 c.669G>A c.(667-669)tgG>tgA p.W223* NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 223 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 GCAGCCTCTCCCAAAGCTTTC 0.567000 16 78 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28878665 28878665 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:28878665C>T ENST00000375664.3 + 5 856 c.246_splice c.e5-1 p.P83_splice WAC_ENST00000347934.4_Splice_Site_p.P128_splice|WAC_ENST00000428935.1_Splice_Site_p.P83_splice|WAC_ENST00000354911.4_Splice_Site_p.P128_splice|WAC_ENST00000375646.1_Splice_Site_p.P83_splice Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 128 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TATTTTTAAGCCTTATGATTC 0.308000 5 73 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7065069 7065069 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:7065069G>A ENST00000299481.4 + 4 2158 c.1812G>A c.(1810-1812)aaG>aaA p.K604K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 604 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTTTCCCAAAGGTTGCCATTA 0.423000 11 75 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040765 88040765 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:88040765G>A ENST00000319595.4 + 1 920 c.866G>A c.(865-867)cGg>cAg p.R289Q NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 289 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ACAAGAGAACGGAAAGCAGCC 0.378000 3 27 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37184923 37184923 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:37184923A>G ENST00000274258.7 - 25 4678 c.1091T>C c.(1090-1092)gTt>gCt p.V364A C5orf42_ENST00000508244.1_Missense_Mutation_p.V1483A|C5orf42_ENST00000425232.2_Missense_Mutation_p.V1483A E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1483 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TTTTTCTTCAACCGACAAAGC 0.393000 14 48 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247719744 247719744 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247719744G>A ENST00000366488.4 + 2 169 c.65G>A c.(64-66)gGa>gAa p.G22E GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366491.2_Intron NM_145278.3 NP_660321.1 germinal center-associated, signaling and motility-like CCCAAGAAAGGAAACCCAGAT 0.368000 5 16 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133078617 133078617 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:133078617G>A ENST00000326499.6 - 2 406 c.282C>T c.(280-282)ttC>ttT p.F94F VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Silent_p.F41F|VNN2_ENST00000525289.1_Silent_p.F94F NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 94 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCAGATAAGGGAAAACAGTTT 0.398000 11 39 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31348070 31348070 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:31348070G>A ENST00000396618.3 + 5 349 c.293G>A c.(292-294)cGa>cAa p.R98Q COCH_ENST00000216361.4_Missense_Mutation_p.R98Q|COCH_ENST00000475087.1_Missense_Mutation_p.R98Q|COCH_ENST00000460581.2_5'UTR|RP11-829H16.3_ENST00000555108.1_RNA NM_004086.2 NP_004077.1 O43405 COCH_HUMAN cochlin 98 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) CTACCTGGTCGAGAAAACTAT 0.433000 5 39 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54867598 54867598 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54867598C>T ENST00000391743.3 - 8 908 c.628G>A c.(628-630)Gga>Aga p.G210R LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.G228R|LAIR1_ENST00000313038.6_Missense_Mutation_p.G221R|LAIR1_ENST00000474878.1_Missense_Mutation_p.G210R|LAIR1_ENST00000348231.4_Missense_Mutation_p.G211R|LAIR1_ENST00000434277.2_Missense_Mutation_p.G227R Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 228 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCAGGAAGTCCATTGACTGTG 0.488000 8 77 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4470636 4470636 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4470636G>A ENST00000325719.4 + 1 112 c.67G>A c.(67-69)Gaa>Aaa p.E23K NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAGGCCTGGAACACCTGCA 0.507000 8 69 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128582375 128582375 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:128582375C>T ENST00000371122.4 - 24 3205 c.3076G>A c.(3076-3078)Gaa>Aaa p.E1026K SMARCA1_ENST00000371123.1_Missense_Mutation_p.E1014K|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E1014K NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 1026 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TCCATATTTTCTTTCTCAATC 0.318000 9 39 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11568276 11568276 + Missense_Mutation SNP G G A rs34253737 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:11568276G>A ENST00000262442.3 + 15 2790 c.2722G>A c.(2722-2724)Gaa>Aaa p.E908K DNAH9_ENST00000454412.2_Missense_Mutation_p.E908K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 908 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTATCTTCTGGAAAATACTGG 0.378000 11 84 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215589 20215589 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20215589G>A ENST00000331723.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGGCTTGATGAAAAAAGAAC 0.308000 5 99 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20996645 20996645 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20996645A>G ENST00000261383.3 - 48 7418 c.7419T>C c.(7417-7419)ctT>ctC p.L2473L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2473 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGATCTTCTTAAGATCTTCTC 0.498000 4 28 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47280901 47280901 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47280901C>A ENST00000271153.4 + 8 1071 c.1035C>A c.(1033-1035)gtC>gtA p.V345V CYP4B1_ENST00000371923.4_Silent_p.V346V|CYP4B1_ENST00000452782.2_Silent_p.V183V|CYP4B1_ENST00000371919.4_Silent_p.V331V P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 345 V -> I (in allele CYP4B1*6). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GAGAGGAGGTCCGCGAGATCC 0.577000 5 33 0.0215528 0.0215935 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21307661 21307661 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:21307661G>A ENST00000602326.1 - 7 694 c.111C>T c.(109-111)tcC>tcT p.S37S EIF4G3_ENST00000374935.3_Silent_p.S30S|EIF4G3_ENST00000356916.3_Silent_p.S41S|EIF4G3_ENST00000400422.1_Silent_p.S30S|EIF4G3_ENST00000374927.4_Silent_p.S30S|EIF4G3_ENST00000374937.3_Silent_p.S37S|EIF4G3_ENST00000264211.8_Silent_p.S30S NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 30 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) CAGGACGAATGGAAGGACTGC 0.488000 4 68 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3142263 3142263 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:3142263C>T ENST00000252463.2 - 2 373 c.286G>A c.(286-288)Gaa>Aaa p.E96K ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 96 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 CACCCCTTTTCCTCCAAGGTG 0.562000 4 73 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789973 248789973 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248789973C>T ENST00000330803.2 - 1 518 c.457G>A c.(457-459)Ggc>Agc p.G153S NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) AGCAGAAAGCCATCGAGGGAG 0.527000 15 57 0 0 1 0 0 ZNF222 7673 broad.mit.edu 37 19 44536410 44536410 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44536410C>T ENST00000187879.8 + 4 745 c.583C>T c.(583-585)Cac>Tac p.H195Y ZNF222_ENST00000391960.3_Missense_Mutation_p.H235Y|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) TCAAAGAGTCCACACTGGAGA 0.423000 20 142 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996561 140996561 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140996561C>T ENST00000285879.4 + 4 3657 c.3371C>T c.(3370-3372)tCg>tTg p.S1124L MAGEC1_ENST00000406005.2_Missense_Mutation_p.S191L NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1124 protein binding p.S1124*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ACAGATGATTCGACTGCCACA 0.483000 HNSCC(15;0.026) 31 60 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103381237 103381237 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:103381237C>T ENST00000358392.2 - 50 4119 c.3802G>A c.(3802-3804)Gaa>Aaa p.E1268K COL11A1_ENST00000370096.3_Missense_Mutation_p.E1256K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1140K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1217K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1256 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCTCCAGGTTCACCCTATATA 0.358000 4 77 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372732 175372732 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175372732G>A ENST00000367674.1 - 4 1228 c.520C>T c.(520-522)Cac>Tac p.H174Y TNR_ENST00000263525.2_Missense_Mutation_p.H174Y NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 174 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) CCACTGCAGTGAGGGATATAG 0.562000 12 58 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117560981 117560981 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:117560981T>A ENST00000256652.4 + 6 1874 c.1816T>A c.(1816-1818)Ttc>Atc p.F606I CD101_ENST00000369470.1_Missense_Mutation_p.F606I NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 606 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATGGGGGAATTTCCTATCCCG 0.488000 6 87 0 0 1 0 0 MEF2A 4205 broad.mit.edu 37 15 100211647 100211647 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:100211647C>T ENST00000338042.6 + 4 697 c.378C>T c.(376-378)ttC>ttT p.F126F MEF2A_ENST00000558812.1_Silent_p.F58F|MEF2A_ENST00000449277.2_Silent_p.F58F|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557785.1_Silent_p.F126F|MEF2A_ENST00000557942.1_Silent_p.F126F|MEF2A_ENST00000453228.2_Silent_p.F126F Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 126 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|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|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|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|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) ATTTTATTTTCAAACGAGGCC 0.373000 11 79 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35584047 35584047 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:35584047G>A ENST00000287272.2 + 9 1494 c.1474_splice c.e9+1 p.G492_splice UNC5D_ENST00000404895.2_Splice_Site_p.G561_splice|UNC5D_ENST00000453357.2_Splice_Site_p.G556_splice|UNC5D_ENST00000420357.1_Splice_Site_p.G494_splice|UNC5D_ENST00000416672.1_Splice_Site_p.G566_splice|UNC5D_ENST00000449677.1_Splice_Site_p.G137_splice Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 561 apoptosis|axon guidance integral to membrane receptor activity p.G556R(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCAAATACAGGTGGGTGGTA 0.418000 10 165 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15718545 15718545 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:15718545G>A ENST00000281171.4 + 18 3060 c.2730G>A c.(2728-2730)aaG>aaA p.K910K PTPRO_ENST00000348962.2_Silent_p.K882K|PTPRO_ENST00000544244.1_Silent_p.K71K|PTPRO_ENST00000442921.2_Silent_p.K99K|PTPRO_ENST00000542557.1_Silent_p.K71K|PTPRO_ENST00000445537.2_Silent_p.K99K NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 910 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) ATGGTTTAAAGAAGAGGAAAC 0.254000 6 32 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133119308 133119308 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:133119308A>T ENST00000302334.2 + 1 470 c.381A>T c.(379-381)caA>caT p.Q127H NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 127 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CCCTTGAGCAAGTCAGTCAGG 0.612000 6 54 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388943 4388943 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4388943G>A ENST00000408920.2 - 1 673 c.583C>T c.(583-585)Cga>Tga p.R195* NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R195*(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGTTTATTCGAATGTCATTA 0.338000 5 57 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94044216 94044216 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94044216G>A ENST00000553484.1 + 18 2394 c.2240G>A c.(2239-2241)cGa>cAa p.R747Q UNC79_ENST00000393151.2_Missense_Mutation_p.R747Q|UNC79_ENST00000256339.4_Missense_Mutation_p.R570Q|UNC79_ENST00000555664.1_Missense_Mutation_p.R747Q Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 747 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 CCTGGCCGACGAGTTCAGCAC 0.443000 35 149 0 0 1 0 0 NPLOC4 55666 broad.mit.edu 37 17 79536077 79536077 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:79536077G>A ENST00000374747.5 - 14 1543 c.1414C>T c.(1414-1416)Cct>Tct p.P472S NPLOC4_ENST00000539314.1_Missense_Mutation_p.P311S|NPLOC4_ENST00000331134.6_Missense_Mutation_p.P472S Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 472 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTTTCAATAGGAAATGGATTT 0.363000 12 44 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48379942 48379942 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:48379942C>T ENST00000264313.6 + 3 986 c.568C>T c.(568-570)Cct>Tct p.P190S SLAIN2_ENST00000512093.1_5'UTR|SLAIN2_ENST00000506375.1_3'UTR NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 190 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 ATATAATAATCCTTTCAACTC 0.398000 14 29 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177249566 177249566 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:177249566G>A ENST00000361539.4 + 8 1566 c.1254G>A c.(1252-1254)tgG>tgA p.W418* FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 418 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCTACTGGTGGAACCGAATCC 0.507000 12 93 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45949780 45949780 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:45949780G>A ENST00000531526.1 + 13 1918 c.1807G>A c.(1807-1809)Gag>Aag p.E603K GYLTL1B_ENST00000325468.5_Missense_Mutation_p.E603K|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.E603K|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.E572K|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.E572K NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 603 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CCGCTGGCGGGAGGCTCAGGC 0.657000 6 128 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347172 71347172 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:71347172C>T ENST00000413702.1 + 4 999 c.711C>T c.(709-711)gcC>gcT p.A237A MUC7_ENST00000456088.1_Silent_p.A237A|MUC7_ENST00000304887.5_Silent_p.A237A NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 237 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCACAGCTGCCCCACCCACAC 0.592000 8 89 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799036 57799036 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57799036C>T ENST00000302622.3 + 1 635 c.612C>T c.(610-612)ttC>ttT p.F204F OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CTGTGGATTTCCTGGTGTCTC 0.522000 9 94 0 0 1 0 0 SSX9 280660 broad.mit.edu 37 X 48159134 48159134 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:48159134C>T ENST00000376909.1 - 6 461 c.399G>A c.(397-399)caG>caA p.Q133Q SSX9_ENST00000407081.2_Silent_p.Q133Q breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TCCCATCGTTCTGTAAGCCAG 0.463000 50 91 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139572095 139572095 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139572095C>T ENST00000263552.6 + 6 692 c.154C>T c.(154-156)Cct>Tct p.P52S TBXAS1_ENST00000539806.1_Missense_Mutation_p.P52S|TBXAS1_ENST00000336425.5_Missense_Mutation_p.P51S|TBXAS1_ENST00000455353.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000458722.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000448866.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000414508.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000411653.1_Missense_Mutation_p.P51S|TBXAS1_ENST00000436047.2_Missense_Mutation_p.P52S|TBXAS1_ENST00000425687.1_5'UTR NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 51 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CAAGCCTTCTCCTTTCATTGG 0.473000 8 69 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421457 105421457 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:105421457G>A ENST00000333244.5 - 6 607 c.488C>T c.(487-489)aCc>aTc p.T163I NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 163 PDZ. nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AAAGAACACGGTTGTACTGAG 0.507000 9 49 0 0 1 0 0 HRASLS5 117245 broad.mit.edu 37 11 63257786 63257786 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63257786T>C ENST00000540857.1 - 2 300 c.168A>G c.(166-168)gcA>gcG p.A56A HRASLS5_ENST00000539221.1_Silent_p.A66A|HRASLS5_ENST00000301790.4_Silent_p.A66A NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 66 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 GGACCAACGCTGCGAATCCCA 0.537000 58 228 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902316 23902316 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:23902316G>A ENST00000355349.3 - 4 484 c.322C>T c.(322-324)Cgc>Tgc p.R108C NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 108 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGCCGTAGCGATCCTTGAGG 0.572000 6 49 0 0 1 0 0 TMX2 51075 broad.mit.edu 37 11 57505847 57505847 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57505847C>T ENST00000278422.4 + 4 398 c.386C>T c.(385-387)cCc>cTc p.P129L TMX2_ENST00000378312.4_Missense_Mutation_p.P91L|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 129 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 ACGTGCAAACCCCCCCTATAT 0.423000 11 117 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830466 61830466 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61830466G>A ENST00000280772.1 - 37 10364 c.10173C>T c.(10171-10173)tcC>tcT p.S3391S ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3391 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACTCTGTGATGGACTGGTCGT 0.458000 4 81 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288818 7288818 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7288818C>T ENST00000537408.1 + 5 1333 c.795C>T c.(793-795)atC>atT p.I265I CLSTN3_ENST00000266546.6_Silent_p.I253I Q9BQT9 CSTN3_HUMAN calsyntenin 3 253 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 ACAAAAGGATCGAATATGCAC 0.552000 5 68 0 0 1 0 0 IFFO1 25900 broad.mit.edu 37 12 6660113 6660113 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:6660113G>A ENST00000336604.4 - 2 869 c.828C>T c.(826-828)ctC>ctT p.L276L IFFO1_ENST00000436152.2_5'UTR|IFFO1_ENST00000356896.4_Silent_p.L276L|IFFO1_ENST00000396840.2_Silent_p.L276L|IFFO1_ENST00000465801.1_5'UTR NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 276 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 TCACCTCCTGGAGCTCATTTA 0.607000 16 115 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72037539 72037539 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:72037539G>A ENST00000355327.3 + 12 2135 c.2001G>A c.(1999-2001)gaG>gaA p.E667E THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.E667E|THSD4_ENST00000357769.4_Silent_p.E307E Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 667 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGACCCCCGAGGAGGAGCCCT 0.547000 21 201 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037498 75037498 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75037498T>A ENST00000326665.5 - 14 4114 c.3896A>T c.(3895-3897)gAc>gTc p.D1299V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1299 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 GCACTCTTTGTCCTCTTCCTC 0.537000 10 189 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059697 9059697 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9059697G>A ENST00000397910.4 - 3 27952 c.27749C>T c.(27748-27750)gCc>gTc p.A9250V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9252 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAAGATGTGGCCTTTGTTGT 0.448000 7 72 0 0 1 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396043 101396043 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:101396043C>T ENST00000372774.3 - 3 510 c.261G>A c.(259-261)caG>caA p.Q87Q TCEAL6_ENST00000372773.1_Silent_p.Q87Q NM_001006938.2 NP_001006939.2 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 14 CTGGCTTTGCCTGGGAGGCTG 0.602000 28 128 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179530429 179530429 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:179530429C>T ENST00000367615.4 - 3 514 c.446G>A c.(445-447)gGc>gAc p.G149D NPHS2_ENST00000367616.4_Missense_Mutation_p.G149D NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 149 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 TTTACCAGGGCCTTTGGCTCT 0.378000 15 201 0 0 1 0 0 PRSS3 5646 broad.mit.edu 37 9 33796694 33796694 + Missense_Mutation SNP G G A rs3831310 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:33796694G>A ENST00000361005.5 + 2 265 c.265G>A c.(265-267)Gag>Aag p.E89K RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.E32K|PRSS3_ENST00000429677.3_Missense_Mutation_p.E25K|PRSS3_ENST00000342836.4_Missense_Mutation_p.E46K NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 89 Peptidase S1. Missing (in Ref. 1; CAA50484). digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) CACCTGTGAGGAGAATTCTCT 0.532000 29 116 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929070 51929070 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:51929070G>A ENST00000310914.5 - 4 516 c.454C>T c.(454-456)Cgc>Tgc p.R152C NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 152 IQ 2. central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGGATGATGCGAACAGCATTG 0.612000 8 87 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58299295 58299295 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:58299295C>T ENST00000377918.3 + 4 3373 c.3347C>T c.(3346-3348)gCt>gTt p.A1116V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1116 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GAGATGGGTGCTGTTCTTGAG 0.522000 17 181 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206023508 206023508 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:206023508C>T ENST00000406610.2 + 11 1704 c.1497C>T c.(1495-1497)atC>atT p.I499I PARD3B_ENST00000462231.1_Silent_p.I499I|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Silent_p.I499I|PARD3B_ENST00000351153.1_Silent_p.I499I NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 499 PDZ 3. cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCTTTGAGATCCCCCTGAATG 0.468000 20 98 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71252859 71252859 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:71252859G>A ENST00000395275.2 - 7 1075 c.687C>T c.(685-687)acC>acT p.T229T CALN1_ENST00000405452.2_Silent_p.T187T|CALN1_ENST00000329008.5_Silent_p.T187T|CALN1_ENST00000431984.1_Silent_p.T187T|CALN1_ENST00000412588.1_Silent_p.T229T|CALN1_ENST00000395276.2_Silent_p.T187T NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 187 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) TCCGGACGCAGGTCTGTCTGT 0.532000 11 46 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023412 76023412 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:76023412C>T ENST00000393004.2 - 5 2357 c.2136G>A c.(2134-2136)ttG>ttA p.L712L FILIP1_ENST00000370020.1_Silent_p.L613L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.L712L Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 712 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TAGCTTCTTCCAACCGAAATC 0.418000 22 145 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869605 151869605 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151869605C>T ENST00000329342.5 + 3 520 c.295C>T c.(295-297)Cct>Tct p.P99S NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 99 protein binding p.P99S(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AAGCACCTTCCCTGACCTGGA 0.557000 20 59 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51361366 51361366 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51361366C>T ENST00000360617.3 + 3 288 c.288C>T c.(286-288)ttC>ttT p.F96F KLK3_ENST00000593997.1_Silent_p.F96F|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Silent_p.F96F|KLK3_ENST00000597483.1_Intron P07288 KLK3_HUMAN kallikrein-related peptidase 3 96 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GCCACAGCTTCCCACACCCGC 0.577000 4 28 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26462693 26462693 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26462693C>T ENST00000265944.5 + 30 3666 c.3500C>T c.(3499-3501)tCc>tTc p.S1167F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1167 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GTGAAGACTTCCACTTTCAAA 0.368000 10 33 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921159 24921159 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:24921159G>A ENST00000329468.2 + 1 619 c.145G>A c.(145-147)Ggc>Agc p.G49S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCCTTTCCGCGGCCTGTTCCG 0.756000 5 44 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277829 152277829 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152277829G>A ENST00000368799.1 - 3 9568 c.9533C>T c.(9532-9534)tCa>tTa p.S3178L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3178 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGTGACACTGAGTGCCTGGA 0.562000 Ichthyosis 36 336 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612743 179612743 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179612743G>A ENST00000360870.5 - 46 14606 c.14384C>T c.(14383-14385)cCa>cTa p.P4795L TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 904 Ig-like 28. 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) ATCCTGCTTTGGAAATGCTGC 0.468000 7 21 0 0 1 0 0 CDK5 1020 broad.mit.edu 37 7 150754174 150754174 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150754174C>T ENST00000485972.1 - 2 792 c.111G>A c.(109-111)ctG>ctA p.L37L CDK5_ENST00000297518.4_Silent_p.L37L NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 37 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) CATCGTCATCCAGCCTCACCC 0.622000 10 228 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70916954 70916954 + Silent SNP C C T rs139638138 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70916954C>T ENST00000322773.4 + 51 3507 c.3405C>T c.(3403-3405)gcC>gcT p.A1135A COL19A1_ENST00000393344.1_Silent_p.A757A NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1135 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TGTCTCATGCCCATCAGCGCA 0.547000 21 169 0 0 1 0 0 NPAS1 4861 broad.mit.edu 37 19 47542697 47542697 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:47542697C>G ENST00000602212.1 + 8 1057 c.837C>G c.(835-837)caC>caG p.H279Q NPAS1_ENST00000449844.2_Missense_Mutation_p.H279Q|NPAS1_ENST00000602189.1_Missense_Mutation_p.H104Q|NPAS1_ENST00000439365.2_Missense_Mutation_p.H103Q Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 279 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) TTCGGGCCCACGCCCTGGGCC 0.682000 17 70 0 0 1 0 0 ASB7 140460 broad.mit.edu 37 15 101188569 101188569 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:101188569C>T ENST00000332783.7 + 6 1644 c.859C>T c.(859-861)Cga>Tga p.R287* ASB7_ENST00000558747.1_Nonsense_Mutation_p.R85* NM_198243.2 NP_937886.1 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box containing 7 287 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2) 16 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) AATTAAAATTCGACAATGTAT 0.358000 4 38 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143048937 143048937 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143048937G>A ENST00000343257.2 + 23 2933 c.2846G>A c.(2845-2847)gGc>gAc p.G949D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 949 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AAGGTAGAGGGCGAGTTGGAG 0.647000 6 78 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119927556 119927556 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:119927556C>T ENST00000361035.4 + 5 763 c.480C>T c.(478-480)tcC>tcT p.S160S HAO2_ENST00000325945.3_Silent_p.S147S NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 147 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GGGTAGAATCCCTAGGTTTCA 0.463000 21 94 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98478873 98478873 + Splice_Site SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:98478873C>G ENST00000359863.4 + 2 309 c.100_splice c.e2+1 p.P34_splice TRRAP_ENST00000446306.3_Splice_Site_p.P34_splice|TRRAP_ENST00000355540.3_Splice_Site_p.P34_splice NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 34 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGTGAATACACGTGAGTTGAT 0.493000 6 56 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717194 13717194 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:13717194C>T ENST00000279593.3 - 13 3187 c.2978G>A c.(2977-2979)aGt>aAt p.S993N NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 993 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) ACTGCCAATACTATGGGGCCG 0.562000 7 58 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103907782 103907782 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:103907782G>A ENST00000302259.3 + 1 475 c.232G>A c.(232-234)Gac>Aac p.D78N PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 78 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity p.D78N(1) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ACTGCAGAAGGACAATGTGGG 0.597000 21 180 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511439 61511439 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:61511439G>A ENST00000266070.4 - 16 6194 c.5869C>T c.(5869-5871)Cca>Tca p.P1957S DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1957 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTGGGACCTGGCATAAAGTTA 0.587000 36 132 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160763644 160763644 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:160763644G>A ENST00000274547.2 - 7 891 c.674C>T c.(673-675)tCc>tTc p.S225F GABRB2_ENST00000517547.1_Missense_Mutation_p.S65F|GABRB2_ENST00000393959.1_Missense_Mutation_p.S225F|GABRB2_ENST00000520240.1_Missense_Mutation_p.S225F|GABRB2_ENST00000353437.6_Missense_Mutation_p.S225F|GABRB2_ENST00000517901.1_Missense_Mutation_p.S162F NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 225 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAAACCTGTGGAAAAAACAAC 0.373000 10 32 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46914641 46914641 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:46914641C>T ENST00000378623.1 - 13 1822 c.1580G>A c.(1579-1581)tGg>tAg p.W527* NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 527 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TGAGTCGGTCCAGTAGAGTTT 0.587000 5 28 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678593 130678593 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130678593C>T ENST00000338616.3 + 1 644 c.546C>T c.(544-546)tcC>tcT p.S182S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) AGATTCTCTCCCTCATTAAGC 0.478000 37 141 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56313004 56313004 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56313004G>A ENST00000443188.1 - 7 2815 c.2105C>T c.(2104-2106)tCc>tTc p.S702F NLRP11_ENST00000592953.1_Missense_Mutation_p.S603F|NLRP11_ENST00000589824.2_Missense_Mutation_p.S648F|NLRP11_ENST00000589093.1_Missense_Mutation_p.S702F|NLRP11_ENST00000360133.3_Missense_Mutation_p.S648F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 702 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CATATTTAGGGAAATGGACGT 0.463000 5 121 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32362719 32362719 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32362719G>A ENST00000454136.3 - 6 1166 c.1162C>T c.(1162-1164)Cca>Tca p.P388S BTNL2_ENST00000414363.1_Missense_Mutation_p.P178S|BTNL2_ENST00000374995.3_Missense_Mutation_p.P294S|BTNL2_ENST00000544175.1_Missense_Mutation_p.P111S|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374993.1_Missense_Mutation_p.P388S|BTNL2_ENST00000540315.1_Missense_Mutation_p.P178S Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 388 integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TGGGGCTGTGGGAACCACCCA 0.577000 14 193 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558546 140558546 + Missense_Mutation SNP G G A rs148140727 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140558546G>A ENST00000239444.2 + 1 1176 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E311K(2) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTGATTTCGAAAAATTTCA 0.383000 6 113 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58980036 58980036 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58980036C>T ENST00000361050.3 - 1 388 c.303G>A c.(301-303)ctG>ctA p.L101L NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 101 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CCCAGGATTCCAGGATTTCTG 0.453000 24 125 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23937629 23937629 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:23937629G>A ENST00000402377.3 - 3 363 c.222C>T c.(220-222)ccC>ccT p.P74P ZNF681_ENST00000395385.3_Silent_p.P5P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACCTACCTGGGGGTTCGGCCA 0.428000 9 57 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 74013578 74013578 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:74013578C>T ENST00000331597.4 - 3 448 c.403G>A c.(403-405)Gga>Aga p.G135R P4HA3_ENST00000427714.2_Missense_Mutation_p.G135R NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 135 endoplasmic reticulum lumen 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 NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CTTGCTGCTCCCTCAAGGTCC 0.522000 11 92 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55925727 55925727 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55925727G>A ENST00000244728.5 - 26 2711 c.2314C>T c.(2314-2316)Cca>Tca p.P772S COL21A1_ENST00000370819.1_Missense_Mutation_p.P769S|COL21A1_ENST00000535941.1_Missense_Mutation_p.P772S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.P172S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 772 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TGAGGACCTGGATCCCCAGGT 0.502000 7 37 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51472605 51472605 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:51472605T>A ENST00000374095.5 - 4 500 c.375A>T c.(373-375)atA>atT p.I125I NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 125 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CATCAAGGAATATTGTCGAAC 0.373000 6 51 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147560390 147560390 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:147560390A>G ENST00000367481.3 + 4 523 c.415A>G c.(415-417)Aaa>Gaa p.K139E STXBP5_ENST00000546097.1_Missense_Mutation_p.K139E|STXBP5_ENST00000367480.3_Missense_Mutation_p.K139E|STXBP5_ENST00000321680.6_Missense_Mutation_p.K139E|STXBP5_ENST00000179882.6_5'UTR NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 139 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) ACATTCGCTTAAATTTTGCAG 0.353000 5 49 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154320959 154320959 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:154320959C>T ENST00000368489.3 + 27 3338 c.3338C>T c.(3337-3339)cCc>cTc p.P1113L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1099 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGCATCATGCCCGTGGTTGCC 0.612000 4 23 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 61 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994283 140994283 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140994283T>G ENST00000285879.4 + 4 1379 c.1093T>G c.(1093-1095)Ttt>Gtt p.F365V MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 365 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCAAAGTACTTTTGAGGGTTT 0.488000 HNSCC(15;0.026) 36 89 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083098 9083098 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9083098G>A ENST00000397910.4 - 1 8920 c.8717C>T c.(8716-8718)tCt>tTt p.S2906F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2907 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTTGGTAAAGAAGCGGACTT 0.493000 5 46 0 0 1 0 0 OR2A7 401427 broad.mit.edu 37 7 143956715 143956715 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143956715C>T ENST00000493325.1 - 1 100 c.7G>A c.(7-9)Gac>Aac p.D3N RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) GTTATATTGTCCCCCATATCC 0.433000 18 109 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95574384 95574384 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:95574384G>A ENST00000526495.1 - 18 2774 c.2483C>T c.(2482-2484)tCc>tTc p.S828F DICER1_ENST00000541352.1_Missense_Mutation_p.S828F|DICER1_ENST00000527414.1_Missense_Mutation_p.S828F|DICER1_ENST00000343455.3_Missense_Mutation_p.S828F|DICER1_ENST00000393063.1_Missense_Mutation_p.S828F Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 828 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAACTCAATGGATATGGTAAC 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 7 41 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24505352 24505352 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:24505352G>A ENST00000264463.4 - 8 1769 c.1262C>T c.(1261-1263)tCc>tTc p.S421F NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 421 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S421F(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCGATCCAAGGAAAATCTGAA 0.368000 HNSCC(23;0.051) 5 44 0 0 1 0 0 C2orf53 339779 broad.mit.edu 37 2 27360233 27360233 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:27360233C>T ENST00000335524.3 - 3 1490 c.965G>A c.(964-966)gGg>gAg p.G322E NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 322 cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCTGAGGCCCTGCTTCCTT 0.672000 4 76 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36848055 36848055 + Missense_Mutation SNP G G A rs144671254 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:36848055G>A ENST00000279024.4 - 11 2804 c.2533C>T c.(2533-2535)Cgc>Tgc p.R845C NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 845 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GCTTCCAGGCGGCCCAGGCGG 0.632000 7 109 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23868105 23868105 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:23868105C>T ENST00000405093.3 - 15 1793 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K MYH6_ENST00000356287.3_Missense_Mutation_p.E575K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 575 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AAGTGGGCTTCCTGCTTCCCC 0.547000 10 48 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49913016 49913016 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49913016G>A ENST00000447857.3 + 15 1358 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 385 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 CCAGAAACAGGAAGTGGCAAC 0.488000 13 38 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48391404 48391404 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48391404G>A ENST00000380518.3 - 7 680 c.516C>T c.(514-516)ccC>ccT p.P172P COL2A1_ENST00000337299.6_Silent_p.P103P NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 172 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAAgaccagggggaccagggg 0.582000 3 26 0 0 1 0 0 DMRTB1 63948 broad.mit.edu 37 1 53925585 53925585 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:53925585G>A ENST00000371445.3 + 1 514 c.459G>A c.(457-459)gcG>gcA p.A153A NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 153 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCGCCGTGGCGATGCCCAGCC 0.771000 3 10 0 0 1 0 0 VAT1L 57687 broad.mit.edu 37 16 77918628 77918628 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:77918628G>A ENST00000302536.2 + 7 1159 c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 336 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GGGAGTGGTGGAAAAACTCAT 0.502000 3 13 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22190073 22190073 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:22190073C>T ENST00000344041.6 - 18 1689 c.1377G>A c.(1375-1377)gaG>gaA p.E459E RAPGEF5_ENST00000401957.2_Silent_p.E309E NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 309 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GACCAGATGCCTCGAGGGATT 0.403000 19 114 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62675914 62675914 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:62675914G>A ENST00000498273.1 + 4 1763 c.1468G>A c.(1468-1470)Gga>Aga p.G490R NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 490 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 CTCTGAAACAGGAAAGGTAAA 0.408000 5 58 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44598277 44598277 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:44598277G>A ENST00000322927.2 - 3 355 c.255C>T c.(253-255)ctC>ctT p.L85L ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) ATGAATCAGGGAGGTAGCTAT 0.582000 OREG0025987 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 104 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43762435 43762435 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43762435G>A ENST00000244293.7 - 4 949 c.883C>T c.(883-885)Cat>Tat p.H295Y PSG9_ENST00000593948.1_Missense_Mutation_p.H295Y|PSG9_ENST00000443718.3_Missense_Mutation_p.H295Y|PSG9_ENST00000418820.2_Missense_Mutation_p.H295Y|PSG9_ENST00000270077.3_Missense_Mutation_p.H388Y|PSG9_ENST00000596730.1_Missense_Mutation_p.H202Y|PSG9_ENST00000291752.5_Missense_Mutation_p.H202Y Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 304 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGCCCGCTATGATTTCTAGTA 0.443000 50 236 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46474123 46474123 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:46474123C>T ENST00000336915.6 - 2 140 c.71G>A c.(70-72)gGt>gAt p.G24D SKAP1_ENST00000584924.1_Missense_Mutation_p.G24D NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 24 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 ATTCCGCAAACCTTCTGCCAG 0.408000 12 114 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63890552 63890552 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:63890552G>A ENST00000334025.2 + 4 805 c.479G>A c.(478-480)gGg>gAg p.G160E NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 160 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) GAACCTGGCGGGGGAACCAAG 0.478000 8 71 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48393798 48393798 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48393798C>T ENST00000380518.3 - 2 360 c.196G>A c.(196-198)Gac>Aac p.D66N COL2A1_ENST00000337299.6_Intron NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 66 VWFC. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAGATTATGTCGTCGCAGAGG 0.572000 16 46 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88123611 88123611 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:88123611G>A ENST00000507897.1 + 4 359 c.276G>A c.(274-276)acG>acA p.T92T C6ORF165_ENST00000369562.4_Silent_p.T92T Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 92 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGAATTATACGAATCGAGGTA 0.328000 3 34 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542993 28542993 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:28542993C>T ENST00000452236.2 - 3 2106 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 497 Integrase catalytic. 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 CACAAAAATTCAGTCCAGTGT 0.443000 18 91 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701919 143701919 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143701919C>T ENST00000408922.2 + 1 898 c.830C>T c.(829-831)gCc>gTc p.A277V NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ATCTTCTATGCCATTGTCACT 0.423000 8 67 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833756 101833756 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:101833756C>T ENST00000263468.8 + 6 2260 c.1990C>T c.(1990-1992)Cac>Tac p.H664Y KIAA1377_ENST00000537689.1_Missense_Mutation_p.H465Y NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 664 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCAACAATTCCACATTCAAAG 0.368000 6 69 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315671 50315671 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50315671C>T ENST00000332853.3 - 2 448 c.425G>A c.(424-426)tGg>tAg p.W142* VSTM4_ENST00000298454.3_Nonsense_Mutation_p.W142* NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 142 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GCCATTGGACCAGGCCGTCCA 0.602000 17 47 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108507321 108507321 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:108507321C>T ENST00000370056.4 - 1 445 c.171G>A c.(169-171)ctG>ctA p.L57L VAV3-AS1_ENST00000438318.1_RNA|VAV3_ENST00000527011.1_Silent_p.L57L|VAV3_ENST00000371846.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 57 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TGATCTCCTTCAGGTTGATGG 0.632000 8 32 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10216570 10216570 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10216570C>T ENST00000418404.3 - 29 4249 c.4086G>A c.(4084-4086)caG>caA p.Q1362Q MYH13_ENST00000570743.1_Silent_p.Q1362Q|MYH13_ENST00000252172.4_Silent_p.Q1362Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1362 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACAGCGCCCTCTGCAGCTCGG 0.632000 15 148 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69260754 69260754 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:69260754G>A ENST00000551568.1 - 7 922 c.862C>T c.(862-864)Cct>Tct p.P288S CPM_ENST00000546373.1_Missense_Mutation_p.P288S|CPM_ENST00000338356.3_Missense_Mutation_p.P288S NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 288 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TCCTCACGAGGATATTTACAG 0.348000 11 55 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810815 123810815 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123810815C>T ENST00000307033.2 + 1 566 c.492C>T c.(490-492)atC>atT p.I164I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) CATTGACTATCCAGCTGCCAT 0.483000 5 62 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104973337 104973337 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:104973337G>A ENST00000507740.1 + 12 2358 c.2122G>A c.(2122-2124)Gat>Aat p.D708N RIMS2_ENST00000436393.2_Missense_Mutation_p.D694N|RIMS2_ENST00000406091.3_Missense_Mutation_p.D916N|RIMS2_ENST00000262231.10_Missense_Mutation_p.D755N NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 978 PDZ. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTATGACTGTGATGATGGAAT 0.274000 HNSCC(12;0.0054) 5 70 0 0 1 0 0 GDAP2 54834 broad.mit.edu 37 1 118426141 118426141 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:118426141G>A ENST00000369443.4 - 11 1465 c.1216C>T c.(1216-1218)Ctg>Ttg p.L406L GDAP2_ENST00000369442.3_Silent_p.L406L|GDAP2_ENST00000464026.1_5'UTR NM_017686.3 NP_060156.1 Q9NXN4 GDAP2_HUMAN ganglioside induced differentiation associated protein 2 406 CRAL-TRIO. kidney(2)|large_intestine(3)|lung(9)|ovary(2) 16 all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295) Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194) AGTTTCTTCAGGAAGTCGGAG 0.358000 13 51 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99364008 99364008 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99364008G>A ENST00000354593.2 - 4 510 c.407C>T c.(406-408)tCc>tTc p.S136F CYP3A4_ENST00000336411.2_Missense_Mutation_p.S286F P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 286 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) ACCTTTGTGGGACTCAGTTTC 0.453000 14 67 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29795930 29795930 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29795930C>T ENST00000428701.1 + 3 358 c.180C>T c.(178-180)ttC>ttT p.F60F HLA-G_ENST00000376818.3_Silent_p.F60F|HLA-G_ENST00000360323.6_Silent_p.F60F|HLA-G_ENST00000376828.2_Silent_p.F65F|HLA-G_ENST00000376815.3_Silent_p.F60F NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 60 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TCGTGCGGTTCGACAGCGACT 0.687000 6 28 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30138786 30138786 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30138786G>A ENST00000376694.4 + 6 1349 c.e6+1 TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 ATAGATTCAGGTAAACAGCTT 0.428000 5 146 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490893 65490893 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:65490893G>A ENST00000261883.4 - 9 1897 c.1731C>T c.(1729-1731)atC>atT p.I577I NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 577 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTTCCAAAGTGATGGGCTTTT 0.512000 7 50 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114267420 114267420 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:114267420G>A ENST00000369604.1 - 7 1067 c.584C>T c.(583-585)cCc>cTc p.P195L PHTF1_ENST00000393357.2_Missense_Mutation_p.P195L|PHTF1_ENST00000357783.2_Missense_Mutation_p.P195L|PHTF1_ENST00000447664.2_Missense_Mutation_p.P195L|PHTF1_ENST00000369598.1_Intron|PHTF1_ENST00000369600.1_Missense_Mutation_p.P142L|PHTF1_ENST00000369596.2_Missense_Mutation_p.P142L Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 195 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAATAATGGGTACAGATTC 0.358000 15 65 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55855342 55855342 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:55855342C>T ENST00000422046.2 - 5 909 c.628G>A c.(628-630)Ggg>Agg p.G210R CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.G210R|CES1_ENST00000360526.3_Missense_Mutation_p.G211R P23141 EST1_HUMAN carboxylesterase 1 210 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCTGGGTTCCCTCCAAAGCTG 0.592000 4 93 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1256442 1256442 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:1256442G>A ENST00000540437.1 - 4 533 c.78C>T c.(76-78)atC>atT p.I26I CPSF3L_ENST00000435064.1_Silent_p.I20I|CPSF3L_ENST00000450926.2_Silent_p.I20I|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Silent_p.I20I|CPSF3L_ENST00000545578.1_5'UTR|CPSF3L_ENST00000421495.2_Intron NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 20 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TGGAGACCAGGATGCAGCTTC 0.652000 26 115 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43783023 43783023 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:43783023C>T ENST00000372476.3 + 15 2642 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W TIE1_ENST00000433781.2_Missense_Mutation_p.R500W|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 855 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCAGGTCATCCGGGCCATGAT 0.597000 7 113 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17322555 17322555 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:17322555G>A ENST00000452699.1 - 15 1632 c.1443C>T c.(1441-1443)agC>agT p.S481S ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Silent_p.S481S|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.S486S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 486 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TCCGCAGTCGGCTCTGGGCGT 0.622000 36 108 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108383365 108383365 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:108383365C>T ENST00000265843.4 - 6 2979 c.2869G>A c.(2869-2871)Gtt>Att p.V957I EXPH5_ENST00000525344.1_Missense_Mutation_p.V950I|EXPH5_ENST00000443411.1_Missense_Mutation_p.V769I|EXPH5_ENST00000428840.1_Missense_Mutation_p.V881I NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 957 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTGACATCAACCACTTCATCA 0.363000 11 138 0 0 1 0 0 C4orf51 646603 broad.mit.edu 37 4 146601490 146601490 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:146601490G>A ENST00000438731.1 + 1 135 c.135G>A c.(133-135)gtG>gtA p.V45V NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 45 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 ATTCTTCCGTGACAACATACA 0.463000 14 56 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141122263 141122263 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141122263C>T ENST00000389484.3 - 72 12069 c.11098G>A c.(11098-11100)Gga>Aga p.G3700R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3700 LDL-receptor class A 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3700*(1) 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) GAGTTGTCTCCACAGTCGTCC 0.408000 TSP Lung(27;0.18) 13 76 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878037 44878037 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:44878037C>T ENST00000355387.2 + 2 718 c.268C>T c.(268-270)Cct>Tct p.P90S RNF220_ENST00000372247.2_Missense_Mutation_p.P90S|RNF220_ENST00000361799.2_Missense_Mutation_p.P90S Q5VTB9 RN220_HUMAN ring finger protein 220 90 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 TGATTTCCCCCCTTCTCTACT 0.517000 40 328 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38179102 38179102 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:38179102C>T ENST00000407257.1 + 2 891 c.744C>T c.(742-744)ttC>ttT p.F248F RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Silent_p.F248F|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Silent_p.F248F regulator of microtubule dynamics 2 TAAAAGATTTCCTTCATCCTC 0.398000 6 74 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57476906 57476906 + Missense_Mutation SNP G G A rs144227484 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:57476906G>A ENST00000371236.2 - 13 1747 c.1484C>T c.(1483-1485)tCa>tTa p.S495L DAB1_ENST00000371234.4_Missense_Mutation_p.S495L|DAB1_ENST00000420954.2_Missense_Mutation_p.S493L|DAB1_ENST00000371231.1_Missense_Mutation_p.S528L|DAB1_ENST00000414851.2_Missense_Mutation_p.S477L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.S409L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 528 cell differentiation|nervous system development p.S495L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GGATGCAGATGATTTGGATGG 0.493000 29 67 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38987589 38987589 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:38987589G>A ENST00000355481.4 + 42 7017 c.6886G>A c.(6886-6888)Gaa>Aaa p.E2296K RYR1_ENST00000359596.3_Missense_Mutation_p.E2296K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2296K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2296 6 X approximate repeats. 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) GCAGGACCTGGAAAAGGTGTG 0.637000 9 30 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29088030 29088030 + RNA SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:29088030A>T ENST00000564580.1 + 0 200 CCCCCAAGAAAAACTGTTCAG 0.363000 7 40 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26241127 26241127 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26241127G>A ENST00000265944.5 + 3 254 c.88G>A c.(88-90)Gga>Aga p.G30R MYO3A_ENST00000376302.1_Missense_Mutation_p.G30R|MYO3A_ENST00000376301.1_Missense_Mutation_p.G30R|MYO3A_ENST00000543632.1_Missense_Mutation_p.G30R NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 30 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AATTGGCAAAGGAACTTATGG 0.318000 5 35 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143091909 143091909 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143091909C>T ENST00000275815.3 - 14 2430 c.2344G>A c.(2344-2346)Gaa>Aaa p.E782K NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 782 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ACCTGGGTTTCGTATGTGCCA 0.502000 4 37 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516048 138516048 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:138516048G>A ENST00000371763.1 - 5 979 c.726C>T c.(724-726)ttC>ttT p.F242F NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 242 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) ATTCTTTGATGAAGTCTAAAA 0.398000 23 87 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599532 136599532 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:136599532C>T ENST00000531224.1 - 4 739 c.487G>A c.(487-489)Gaa>Aaa p.E163K BCLAF1_ENST00000392348.2_Missense_Mutation_p.E161K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E163K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E161K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E161K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E163K NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 163 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTTTGTTTTTCCTGAGACCCT 0.433000 15 164 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797178 42797178 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42797178G>A ENST00000572681.2 + 16 6329 c.6261G>A c.(6259-6261)gtG>gtA p.V2087V CIC_ENST00000575354.2_Silent_p.V1180V|CIC_ENST00000160740.3_Silent_p.V1178V Q96RK0 CIC_HUMAN capicua transcriptional repressor 1180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCCAGAAAGTGAAGGCAGCCA 0.657000 """Mis, F, S""" oligodendroglioma 4 42 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68688093 68688093 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:68688093C>T ENST00000283916.6 - 10 1317 c.1219G>A c.(1219-1221)Gcc>Acc p.A407T TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A290T|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 407 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TCAAGGTAGGCTGTCACTCGA 0.493000 18 93 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179633550 179633550 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179633550C>T ENST00000589042.1 - 38 9237 c.9013G>A c.(9013-9015)Ggt>Agt p.G3005S TTN_ENST00000460472.2_Missense_Mutation_p.G2959S|TTN_ENST00000359218.5_Missense_Mutation_p.G2959S|TTN_ENST00000591111.1_Missense_Mutation_p.G3005S|TTN_ENST00000360870.5_Missense_Mutation_p.G3005S|TTN_ENST00000342175.6_Missense_Mutation_p.G2959S|TTN_ENST00000342992.6_Missense_Mutation_p.G3005S|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2744 Ig-like 17. 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) ATTTCCACACCATTCTTTAAC 0.403000 7 29 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003605 75003605 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:75003605G>A ENST00000373359.2 - 1 1474 c.1282C>T c.(1282-1284)Cga>Tga p.R428* NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 428 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTAAATCTTCGAAGCAAGTTC 0.483000 17 76 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409822 30409822 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:30409822C>T ENST00000320159.2 + 2 1627 c.1251C>T c.(1249-1251)ccC>ccT p.P417P NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 417 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 CTCGAAGTCCCTCACACTCGG 0.697000 6 45 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673352 141673352 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141673352C>T ENST00000547270.1 - 1 221 c.138G>A c.(136-138)aaG>aaA p.K46K NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 46 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTGCCTGCCTCTTCACTACAT 0.488000 8 80 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236645764 236645764 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:236645764T>A ENST00000359362.5 + 6 647 c.433T>A c.(433-435)Ttc>Atc p.F145I EDARADD_ENST00000334232.4_Missense_Mutation_p.F155I NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 155 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CGAATTGTGCTTCCTGGAGCA 0.542000 6 94 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712468 121712468 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121712468G>A ENST00000273691.3 - 6 1101 c.996C>T c.(994-996)ttC>ttT p.F332F ILDR1_ENST00000344209.5_Silent_p.F376F|ILDR1_ENST00000393631.1_Silent_p.F287F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.F344F NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 376 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) GCTCCTGGTGGAAATCAGGGT 0.602000 5 57 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31327180 31327180 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:31327180G>A ENST00000597505.1 - 4 735 c.736C>T c.(736-738)Cca>Tca p.P246S DCDC1_ENST00000452803.1_Missense_Mutation_p.P246S P59894 DCDC1_HUMAN doublecortin domain containing 1 246 Doublecortin. 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) TTTTTGAATGGATTTAAAAAG 0.393000 5 83 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262521 25262521 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:25262521C>T ENST00000218548.6 + 4 626 c.293C>T c.(292-294)cCc>cTc p.P98L ATP12A_ENST00000381946.3_Missense_Mutation_p.P98L NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 98 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTCACCCCTCCCAAGCAGACG 0.587000 31 265 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064555 78064555 + Silent SNP G G A rs147012103 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:78064555G>A ENST00000299642.4 + 3 523 c.438G>A c.(436-438)acG>acA p.T146T RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.T137T|CLEC3A_ENST00000565808.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 137 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ACATGGTCACGGAAGGCAAGT 0.522000 11 70 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354189 10354189 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10354189C>T ENST00000255381.2 - 29 3999 c.3889G>A c.(3889-3891)Gaa>Aaa p.E1297K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1297 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCATCTTTTTCATCTAGCTGT 0.368000 12 56 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141641515 141641515 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141641515C>T ENST00000389484.3 - 25 5011 c.4040G>A c.(4039-4041)gGa>gAa p.G1347E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1347 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) GTATATGTTTCCTGCTATCCA 0.488000 TSP Lung(27;0.18) 13 99 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508522 48508522 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:48508522C>T ENST00000296443.9 + 3 1355 c.468C>T c.(466-468)atC>atT p.I156I TREX1_ENST00000422277.2_Silent_p.I211I|TREX1_ENST00000456089.1_Silent_p.I17I|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000433541.1_Silent_p.I17I|TREX1_ENST00000436480.2_Silent_p.I156I|TREX1_ENST00000444177.1_Silent_p.I146I Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 211 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TGGATAGCATCACTGCGCTGA 0.597000 10 59 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46133190 46133190 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46133190G>A ENST00000371383.2 - 4 1200 c.940C>T c.(940-942)Caa>Taa p.Q314* ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Nonsense_Mutation_p.Q314* Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) 314 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 ATGATTGGTTGAATTCGACTG 0.383000 8 143 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109745 98109745 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:98109745C>T ENST00000383695.1 + 1 236 c.236C>T c.(235-237)cCc>cTc p.P79L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 GCTATTACTCCCAAGATGTTA 0.388000 62 215 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419889 10419889 + Missense_Mutation SNP C C T rs61730792 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10419889C>T ENST00000226207.5 - 3 165 c.71G>A c.(70-72)cGa>cAa p.R24Q CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 24 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R24Q(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCTTCAATTCGCTCCCTTTC 0.507000 12 86 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129040040 129040040 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:129040040G>A ENST00000274487.4 + 21 3395 c.3250G>A c.(3250-3252)Gat>Aat p.D1084N ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1084 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGACTGTGAGGATTATTCAAA 0.458000 9 105 0 0 1 0 0 SERPINA9 327657 broad.mit.edu 37 14 94931100 94931100 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94931100C>T ENST00000337425.5 - 4 1122 c.1048G>A c.(1048-1050)Gac>Aac p.D350N SERPINA9_ENST00000298845.7_Missense_Mutation_p.D250N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.D252N|SERPINA9_ENST00000380365.3_Missense_Mutation_p.D332N|SERPINA9_ENST00000424550.2_Missense_Mutation_p.D201N|SERPINA9_ENST00000546329.1_Missense_Mutation_p.D314N NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 332 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCATTTTTGTCAAAGACATTT 0.423000 7 63 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84652723 84652723 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:84652723G>A ENST00000393868.2 - 8 1040 c.830C>T c.(829-831)cCa>cTa p.P277L SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 277 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) CTTGGAATTTGGACCCTAGAA 0.428000 22 99 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166990348 166990348 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:166990348C>T ENST00000367872.4 + 11 1312 c.1068C>T c.(1066-1068)ttC>ttT p.F356F MAEL_ENST00000367870.2_Silent_p.F325F|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 356 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GTTCAGGATTCTCTCATTTCA 0.358000 8 38 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42144147 42144147 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:42144147G>A ENST00000401548.3 + 15 1757 c.1717G>A c.(1717-1719)Gaa>Aaa p.E573K MEI1_ENST00000540833.1_Missense_Mutation_p.E313K|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 573 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGCTTTGATGGAAGTTTTCCT 0.498000 3 36 0 0 1 0 0 PRM2 5620 broad.mit.edu 37 16 11370155 11370155 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:11370155C>T ENST00000435245.2 - 1 182 c.73G>A c.(73-75)Gag>Aag p.E25K PRM2_ENST00000241808.4_Missense_Mutation_p.E25K|RMI2_ENST00000572173.1_Intron P04554 PRM2_HUMAN protamine 2 25 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.E25*(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 TGTCCTTGCTCTTGCCCATGC 0.622000 8 57 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125787044 125787044 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:125787044C>T ENST00000263576.6 + 9 1091 c.936C>T c.(934-936)atC>atT p.I312I RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 312 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TGAACAACATCCGGCAATATT 0.478000 4 27 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111078262 111078262 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:111078262C>T ENST00000262839.2 - 7 2701 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 595 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 TCGGTGAATTCGTGTCTGGCT 0.418000 73 241 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023827 25023827 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:25023827C>T ENST00000400382.1 + 13 1972 c.1217C>T c.(1216-1218)tCc>tTc p.S406F GGT1_ENST00000400383.1_Missense_Mutation_p.S406F|GGT1_ENST00000400380.1_Missense_Mutation_p.S406F|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404532.1_Missense_Mutation_p.S62F|GGT1_ENST00000404920.1_Missense_Mutation_p.S62F|GGT1_ENST00000248923.4_Missense_Mutation_p.S406F|GGT1_ENST00000404223.1_Missense_Mutation_p.S62F|GGT1_ENST00000403838.1_Missense_Mutation_p.S62F|GGT1_ENST00000401885.1_Missense_Mutation_p.S62F|GGT1_ENST00000406383.2_Missense_Mutation_p.S406F P19440 GGT1_HUMAN gamma-glutamyltransferase 1 406 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) AGCTTTGGCTCCAAGGTCCGC 0.592000 5 59 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179418483 179418483 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179418483G>A ENST00000589042.1 - 334 89473 c.89249C>T c.(89248-89250)tCc>tTc p.S29750F TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S20685F|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S20810F|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S28109F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S20877F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S27182F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28109 Fibronectin type-III 116. 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) AAGGGTGATGGATGACTTGGT 0.438000 10 56 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11082807 11082807 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:11082807C>T ENST00000304623.8 - 16 2978 c.e16+1 CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000495388.2_Splice_Site|CTNND2_ENST00000359640.2_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGAGAACATACCGATGAGCTC 0.507000 11 97 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272885 28272885 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:28272885G>A ENST00000305242.5 - 6 798 c.706C>T c.(706-708)Cga>Tga p.R236* ARMC4_ENST00000239715.3_Nonsense_Mutation_p.R93* NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 236 binding p.R236*(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGTGGGGCTCGACATCCATTT 0.423000 7 37 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116414943 116414943 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:116414943C>T ENST00000397752.3 + 15 3237 c.3037C>T c.(3037-3039)Cct>Tct p.P1013S MET_ENST00000318493.6_Missense_Mutation_p.P1031S NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1013 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AGATCAGTTTCCTAATTCATC 0.388000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 5 48 0 0 1 0 0 OPN5 221391 broad.mit.edu 37 6 47759624 47759624 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:47759624G>A ENST00000489301.2 + 3 422 c.337G>A c.(337-339)Gga>Aga p.G113R OPN5_ENST00000371211.2_Missense_Mutation_p.G113R|OPN5_ENST00000393699.2_Missense_Mutation_p.G113R|OPN5_ENST00000244799.4_3'UTR Q6U736 OPN5_HUMAN opsin 5 113 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 TGGATGGGCTGGATTTTTCTT 0.478000 6 45 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193082053 193082053 + Missense_Mutation SNP C C T rs78621247 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:193082053C>T ENST00000342358.4 - 2 197 c.80G>A c.(79-81)cGg>cAg p.R27Q NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 27 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R27L(1)|p.R27Q(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATTGTGGTCCCGGTAACCAAA 0.443000 33 143 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122459896 122459896 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:122459896G>A ENST00000264357.5 + 4 820 c.528G>A c.(526-528)gcG>gcA p.A176A GRIA3_ENST00000371256.5_Silent_p.A176A|GRIA3_ENST00000371251.1_Silent_p.A176A|GRIA3_ENST00000541091.1_Silent_p.A160A|GRIA3_ENST00000542149.1_Silent_p.A176A NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 176 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCCTCCAAGCGATTATGGAAG 0.393000 13 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647698 179647698 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179647698C>T ENST00000589042.1 - 18 3159 c.2935G>A c.(2935-2937)Gaa>Aaa p.E979K TTN_ENST00000460472.2_Missense_Mutation_p.E933K|TTN_ENST00000359218.5_Missense_Mutation_p.E933K|TTN_ENST00000591111.1_Missense_Mutation_p.E979K|TTN_ENST00000360870.5_Missense_Mutation_p.E979K|TTN_ENST00000342175.6_Missense_Mutation_p.E933K|TTN_ENST00000342992.6_Missense_Mutation_p.E979K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 979 Ig-like 3. 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) TGGTAGTCTTCCCTGTACCAT 0.478000 7 84 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95201506 95201506 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:95201506C>T ENST00000027335.3 - 3 183 c.59G>A c.(58-60)gGa>gAa p.G20E CDH17_ENST00000450165.2_Missense_Mutation_p.G20E|CDH17_ENST00000441892.2_Missense_Mutation_p.G20E NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 20 integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTGGCCATATCCAGTTGCCTG 0.383000 6 44 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65907066 65907066 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:65907066G>A ENST00000321892.4 + 13 3505 c.3444G>A c.(3442-3444)atG>atA p.M1148I BPTF_ENST00000335221.5_Missense_Mutation_p.M1148I|BPTF_ENST00000424123.3_Missense_Mutation_p.M1009I|BPTF_ENST00000306378.6_Missense_Mutation_p.M1022I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1148 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACGATGACATGAAAACAGAGT 0.363000 8 39 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61647530 61647530 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:61647530G>A ENST00000540820.1 - 2 379 c.307C>T c.(307-309)Cag>Tag p.Q103* FADS3_ENST00000525588.1_Nonsense_Mutation_p.Q103*|FADS3_ENST00000527697.1_5'UTR|FADS3_ENST00000278829.2_Nonsense_Mutation_p.Q103* Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 103 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGTCCATCCTGGCTGGGTTCT 0.592000 6 28 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39271845 39271845 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:39271845G>A ENST00000453413.2 - 4 716 c.576C>T c.(574-576)ttC>ttT p.F192F KCNK17_ENST00000373231.4_Silent_p.F192F NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 192 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 GCAGCAGCAGGAAGAGCAGGA 0.657000 7 62 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202197 6202197 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:6202197G>A ENST00000262450.3 - 15 2526 c.2427C>T c.(2425-2427)ttC>ttT p.F809F CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 809 Helicase ATP-binding. 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) CCTTCATACGGAATACCTTCT 0.587000 32 165 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135480119 135480119 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135480119C>T ENST00000394143.1 + 20 8555 c.8264C>T c.(8263-8265)tCc>tTc p.S2755F GPR112_ENST00000287534.4_Missense_Mutation_p.S2508F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2550F|GPR112_ENST00000412101.1_Missense_Mutation_p.S2550F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2755F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2755 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGAATCTCCTCCATTTTTCTG 0.398000 14 44 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31188869 31188869 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:31188869G>A ENST00000373765.4 - 5 1129 c.1094C>T c.(1093-1095)tCc>tTc p.S365F NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 365 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) CACAGTGAAGGAATTGTCAAT 0.542000 7 124 0 0 1 0 0 DEFB119 245932 broad.mit.edu 37 20 29978284 29978284 + Translation_Start_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:29978284C>T ENST00000339144.3 - 1 109 c.3G>A c.(1-3)atG>atA p.M1I DEFB119_ENST00000376315.2_Start_Codon_SNP_p.M1I|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Start_Codon_SNP_p.M1I Q8N690 DB119_HUMAN defensin, beta 119 1 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AAAGAAGTTTCATGGCTGGCA 0.532000 20 94 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71493387 71493387 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:71493387C>T ENST00000296755.7 + 5 4503 c.4205C>T c.(4204-4206)cCc>cTc p.P1402L NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1402 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CGCAGCCCGCCCCTCATTGGA 0.468000 7 52 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152832157 152832157 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152832157G>A ENST00000367255.5 - 7 992 c.391C>T c.(391-393)Cta>Tta p.L131L SYNE1_ENST00000265368.4_Silent_p.L131L|SYNE1_ENST00000423061.1_Silent_p.L138L|SYNE1_ENST00000466159.2_Silent_p.L131L|SYNE1_ENST00000413186.2_Silent_p.L131L|SYNE1_ENST00000448038.1_Silent_p.L138L|SYNE1_ENST00000341594.5_Silent_p.L131L|SYNE1_ENST00000367253.4_Silent_p.L131L|SYNE1_ENST00000367248.3_Silent_p.L138L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 131 Actin-binding.|CH 1. 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) TGGAAATATAGAATAATGGTC 0.378000 HNSCC(10;0.0054) 14 185 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141128412 141128412 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141128412C>T ENST00000389484.3 - 71 11847 c.e71-1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 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) CACAGTCCATCTGTTCAAATA 0.363000 TSP Lung(27;0.18) 16 60 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154055871 154055871 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:154055871C>T ENST00000389740.2 - 4 1912 c.1813G>A c.(1813-1815)Gat>Aat p.D605N NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 605 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATGAAGAATCTTCTGAGTTT 0.408000 9 83 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62067127 62067127 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:62067127G>A ENST00000404929.1 - 3 1023 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W FAM161A_ENST00000405894.3_Missense_Mutation_p.R338W NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 338 response to stimulus|visual perception centrosome p.R229W(1) breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGCTTTTCCCGGGCTGCTCGC 0.413000 19 91 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39886529 39886529 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:39886529C>T ENST00000260356.5 + 21 3558 c.3393C>T c.(3391-3393)atC>atT p.I1131I NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1131 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GGAAGAAAATCATGGCTGACT 0.393000 10 63 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282887 140282887 + Missense_Mutation SNP G G T rs140778211 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:140282887G>T ENST00000458420.3 + 16 2757 c.2567G>T c.(2566-2568)cGg>cTg p.R856L NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 856 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TACCGGGTCCGGATCGCCCAC 0.547000 HNSCC(16;0.037) 12 139 0.00185496 0.00186238 1 1 0 CIC 23152 broad.mit.edu 37 19 42794422 42794422 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42794422C>T ENST00000572681.2 + 11 4297 c.4229C>T c.(4228-4230)tCc>tTc p.S1410F CIC_ENST00000575354.2_Missense_Mutation_p.S501F|CIC_ENST00000160740.3_Missense_Mutation_p.S501F Q96RK0 CIC_HUMAN capicua transcriptional repressor 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTGATCCGTTCCTCCTTTACC 0.622000 """Mis, F, S""" oligodendroglioma 23 108 0 0 1 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122426 153122426 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:153122426T>A ENST00000368748.4 - 2 199 c.161A>T c.(160-162)aAa>aTa p.K54I NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 54 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAGGGCATTTATCCTGGCA 0.542000 22 71 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089892 57089892 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57089892C>T ENST00000330619.8 + 6 2781 c.2095C>T c.(2095-2097)Cat>Tat p.H699Y ZNF470_ENST00000391709.3_Missense_Mutation_p.H699Y|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 699 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TCAGCGAATTCATACCGGAga 0.423000 7 42 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395241 109395241 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:109395241C>T ENST00000370001.3 - 2 314 c.46G>A c.(46-48)Gat>Aat p.D16N AKNAD1_ENST00000369995.3_Missense_Mutation_p.D16N|AKNAD1_ENST00000369994.1_Missense_Mutation_p.D16N|AKNAD1_ENST00000357393.4_Intron NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 16 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TAAGGCAAATCCTCCTGCTTA 0.443000 4 74 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48683289 48683289 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48683289G>A ENST00000352832.5 + 22 4630 c.4258G>A c.(4258-4260)Ggc>Agc p.G1420S CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1420S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1443S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1420S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1443S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1443S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1420S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1420S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1443S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1420S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1443S 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 1443 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) CGTGTGCCAGGGCGAGGATAC 0.547000 4 38 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79101110 79101110 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:79101110G>A ENST00000370751.4 + 5 991 c.812G>A c.(811-813)gGa>gAa p.G271E IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.G13E NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 271 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 GGGGCAGAAGGAGCAGGACTG 0.368000 19 69 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6758996 6758996 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:6758996C>T ENST00000378827.4 + 3 1670 c.451C>T c.(451-453)Cag>Tag p.Q151* NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 151 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) AGCAGAGCTTCAGGTTTTCCG 0.403000 8 65 0 0 1 0 0 GZMH 2999 broad.mit.edu 37 14 25077568 25077568 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:25077568C>T ENST00000216338.4 - 2 150 c.106G>A c.(106-108)Gcc>Acc p.A36T GZMH_ENST00000557220.2_Missense_Mutation_p.A36T|RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.A36T NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 36 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) TGAACAAAGGCCATGTAGGGG 0.552000 14 194 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39521330 39521330 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:39521330A>T ENST00000265707.5 + 13 1292 c.1247A>T c.(1246-1248)aAg>aTg p.K416M ADAM18_ENST00000379866.1_Missense_Mutation_p.K392M|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 416 Disintegrin. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CAATTTAAGAAGTGCTGTGAT 0.299000 6 34 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274201 103274201 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103274201C>T ENST00000233969.2 + 2 610 c.468C>T c.(466-468)ttC>ttT p.F156F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 156 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CCGGCTATTTCATGCCCACTC 0.468000 25 218 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92560235 92560235 + Missense_Mutation SNP G G A rs141144398 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:92560235G>A ENST00000377067.3 + 6 1697 c.1325G>A c.(1324-1326)gGa>gAa p.G442E NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 442 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.G442E(1) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCCCAGTCTGGAAATCCTGAA 0.373000 8 35 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862622 10862622 + RNA SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:10862622A>C ENST00000559480.1 + 0 1 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GCTCCTTACCATGGACTGGAA 0.502000 8 287 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43023318 43023318 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43023318G>A ENST00000161559.6 - 5 1162 c.1028C>T c.(1027-1029)tCt>tTt p.S343F CEACAM1_ENST00000403444.3_Missense_Mutation_p.S343F|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 343 Ig-like C2-type 3. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CAGGTTCACAGAGTCCTTATC 0.498000 15 113 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179666930 179666930 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179666930C>T ENST00000589042.1 - 3 454 c.230G>A c.(229-231)cGa>cAa p.R77Q TTN_ENST00000460472.2_Missense_Mutation_p.R77Q|TTN_ENST00000359218.5_Missense_Mutation_p.R77Q|TTN_ENST00000591111.1_Missense_Mutation_p.R77Q|TTN_ENST00000360870.5_Missense_Mutation_p.R77Q|TTN_ENST00000342175.6_Missense_Mutation_p.R77Q|TTN_ENST00000342992.6_Missense_Mutation_p.R77Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 77 Ig-like 1. 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) CAGGGAATATCGTCCACTGTT 0.562000 15 104 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004125 75004125 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:75004125G>A ENST00000373359.2 - 1 954 c.762C>T c.(760-762)ggC>ggT p.G254G NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 254 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGCTCTAGAGCCCCACAAGA 0.488000 9 42 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74114672 74114672 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:74114672G>A ENST00000338820.3 - 1 235 c.86C>T c.(85-87)cCg>cTg p.P29L DNAJB12_ENST00000444643.2_5'UTR|DNAJB12_ENST00000394903.2_Missense_Mutation_p.P29L NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 0 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 ACCAGAACGCGGAACCAGGGA 0.697000 4 56 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356489 40356489 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:40356489C>T ENST00000310169.2 + 5 1531 c.1392C>T c.(1390-1392)ttC>ttT p.F464F NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 464 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GGATTTTTTTCATTATGGTGT 0.418000 10 101 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44064852 44064852 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:44064852C>T ENST00000262726.7 - 16 1967 c.1714G>A c.(1714-1716)Gat>Aat p.D572N EFCAB6_ENST00000396231.2_Missense_Mutation_p.D420N NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGTGGGCCATCAATTCCTATG 0.388000 5 66 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2444431 2444431 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:2444431G>A ENST00000378466.3 - 13 1635 c.1623C>T c.(1621-1623)gtC>gtT p.V541V PANK4_ENST00000435556.3_Silent_p.V502V NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 541 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GGGAGCGCACGACCCCGGGGA 0.677000 32 135 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227963478 227963478 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:227963478C>T ENST00000396625.3 - 19 1343 c.1136G>A c.(1135-1137)gGa>gAa p.G379E COL4A4_ENST00000329662.7_Missense_Mutation_p.G379E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 379 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) CCCTGTTTCTCCATAGCGGCC 0.527000 8 50 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2410255 2410255 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:2410255G>A ENST00000332578.3 + 8 1015 c.e8-1 NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) CATTCGGCCAGTGGTCAAGCC 0.602000 12 97 0 0 1 0 0 C19orf59 199675 broad.mit.edu 37 19 7743114 7743114 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:7743114C>T ENST00000333598.3 + 3 763 c.309C>T c.(307-309)ttC>ttT p.F103F C19orf59_ENST00000597445.1_Silent_p.F60F NM_174918.2 NP_777578.2 Q8IX19 MCEM1_HUMAN chromosome 19 open reading frame 59 103 integral to membrane endometrium(1)|lung(2)|skin(1)|stomach(1) 5 TGTCAGCCTTCATCATGGTGA 0.567000 OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 124 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657293 40657293 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40657293C>T ENST00000406785.1 - 2 317 c.128G>A c.(127-129)gGa>gAa p.G43E SLC8A1_ENST00000408028.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G43E|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G43E|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G43E|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G43E|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G43E P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 43 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTTTCATTTCCTTCTCCTTC 0.413000 4 91 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18732255 18732255 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:18732255C>T ENST00000513874.1 - 16 2658 c.2519G>A c.(2518-2520)cGa>cAa p.R840Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 838 Fibronectin type-III 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTTCTTCCTTCGTTCTACAAT 0.567000 12 63 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115573855 115573855 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:115573855G>A ENST00000371900.4 + 4 435 c.346_splice c.e4-1 p.G116_splice NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 116 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TTTTTTCCAGGTGTGGGAATT 0.284000 12 64 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36235043 36235043 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36235043G>A ENST00000412391.2 - 6 365 c.352C>T c.(352-354)Cgg>Tgg p.R118W U2AF1L4_ENST00000378975.3_Missense_Mutation_p.R79W|AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.R79W Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 118 RRM. mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCCCTCCGGAACTGCAGG 0.572000 5 21 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362521 9362521 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9362521T>C ENST00000456448.1 + 1 916 c.802T>C c.(802-804)Tta>Cta p.L268L NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 AGTTGTTTGCTTATTTTATGG 0.473000 3 25 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 131762655 131762655 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:131762655C>T ENST00000370836.2 - 4 1829 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K HS6ST2_ENST00000521489.1_Missense_Mutation_p.E512K|HS6ST2_ENST00000370837.1_Missense_Mutation_p.E326K|HS6ST2_ENST00000406696.3_Missense_Mutation_p.E198K|HS6ST2_ENST00000370833.2_Missense_Mutation_p.E366K NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 472 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) TTTTGAATTTCCTCATTGATC 0.388000 29 102 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904719 62904719 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62904719C>T ENST00000308824.6 + 6 979 c.852C>T c.(850-852)cgC>cgT p.R284R PCMTD2_ENST00000369758.3_Silent_p.R257R|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Silent_p.R60R NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 284 Poly-Arg. cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAGTTCGCCGCCGTCGAATGG 0.463000 17 84 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457472 110457472 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110457472G>A ENST00000378402.5 + 38 5478 c.5374G>A c.(5374-5376)Gag>Aag p.E1792K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1792 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAGAGCAATAGAGGTTAATGA 0.418000 HNSCC(38;0.096) 10 64 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935359 4935359 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:4935359C>T ENST00000345988.2 - 22 3386 c.3297G>A c.(3295-3297)aaG>aaA p.K1099K PPL_ENST00000590782.2_Silent_p.K1097K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1099 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTCTAGCCTCTTGAGCTTGT 0.632000 15 98 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38904465 38904465 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38904465C>T ENST00000274276.3 + 9 1547 c.1145C>T c.(1144-1146)tCc>tTc p.S382F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 382 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TACAATGTTTCCATCAAGGTG 0.438000 4 24 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39739620 39739620 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39739620C>T ENST00000167586.6 - 6 1227 c.1141G>A c.(1141-1143)Gag>Aag p.E381K NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 381 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) AGCTGCTCCTCCACGCTGCCA 0.612000 6 59 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111399776 111399776 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:111399776C>T ENST00000535254.1 - 19 2390 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Missense_Mutation_p.E795K|BUB1_ENST00000302759.6_Missense_Mutation_p.E795K NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 795 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) AAGGCTCCTTCTCCAAGAAGG 0.343000 5 38 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143027984 143027984 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143027984G>A ENST00000343257.2 + 8 1060 c.973G>A c.(973-975)Gat>Aat p.D325N CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 325 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.D325N(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GTGGAACAAGGATGCTGGTAA 0.522000 5 115 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690583 77690583 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77690583G>A ENST00000521891.2 + 4 3681 c.3233G>A c.(3232-3234)cGg>cAg p.R1078Q ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1052Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1052Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1052 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGGGCCTACGGAAGCTCCAG 0.498000 HNSCC(33;0.089) 10 135 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121488495 121488495 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:121488495G>A ENST00000296600.4 + 2 1193 c.810G>A c.(808-810)ccG>ccA p.P270P ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 270 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AGCCCCTTCCGAATGCACAGT 0.542000 8 50 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113418823 113418823 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:113418823G>A ENST00000297405.5 - 35 5983 c.5739C>T c.(5737-5739)tcC>tcT p.S1913S CSMD3_ENST00000352409.3_Silent_p.S1843S|CSMD3_ENST00000343508.3_Silent_p.S1873S|CSMD3_ENST00000455883.2_Silent_p.S1809S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1913 Sushi 10. 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 TAATTGCTATGGATCCATGGA 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 63 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759922 196759922 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196759922C>A ENST00000312428.6 - 30 4774 c.4674G>T c.(4672-4674)ggG>ggT p.G1558G NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1558 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTAATTTTACCCCAGGAAACA 0.313000 5 44 0.0215528 0.0215935 1 1 0 C6 729 broad.mit.edu 37 5 41186300 41186300 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:41186300G>A ENST00000263413.3 - 6 862 c.598C>T c.(598-600)Ctg>Ttg p.L200L C6_ENST00000475349.1_Intron|C6_ENST00000337836.5_Silent_p.L200L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 200 MACPF. 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) TCTCCTGCCAGAAAATGAAAC 0.358000 10 31 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381435 156381435 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156381435G>A ENST00000274532.2 - 2 447 c.391C>T c.(391-393)Cta>Tta p.L131L TIMD4_ENST00000407087.3_Silent_p.L131L NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 131 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) CCTCTCTGTAGATTCAGGCGC 0.507000 6 36 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158614069 158614069 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158614069C>T ENST00000368148.3 - 30 4492 c.4312G>A c.(4312-4314)Gat>Aat p.D1438N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1438N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1438 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGTCCAAATCGTCCCGTTTC 0.403000 6 56 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960426 7960426 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:7960426G>A ENST00000360759.3 - 1 715 c.642C>T c.(640-642)atC>atT p.I214I NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAGACAAGAGGATCAACAAGA 0.458000 7 67 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128135017 128135017 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128135017C>T ENST00000368250.1 - 5 1030 c.532G>A c.(532-534)Gat>Aat p.D178N THEMIS_ENST00000368248.2_Missense_Mutation_p.D257N|THEMIS_ENST00000543064.1_Missense_Mutation_p.D257N|THEMIS_ENST00000537166.1_Missense_Mutation_p.D222N Q8N1K5 THMS1_HUMAN thymocyte selection associated 257 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TCGTAAGAATCAGTGATGTCT 0.353000 17 124 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736789 24736789 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:24736789G>A ENST00000483544.1 - 0 313 NR_029451.2 AAGCCCTCCAGGTCCATGGAG 0.567000 4 44 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124743254 124743254 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124743254G>A ENST00000397801.1 + 10 1777 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K ROBO3_ENST00000538940.1_Missense_Mutation_p.E507K NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 529 Ig-like C2-type 5. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TTCCACAGGGGAAGCCACATG 0.517000 4 14 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107493 168107493 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:168107493C>T ENST00000409195.1 + 9 9680 c.9591C>T c.(9589-9591)atC>atT p.I3197I XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.I3197I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I2975I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3022 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 AAGGGGCCATCCCATGTCCAG 0.473000 11 73 0 0 1 0 0 TFR2 7036 broad.mit.edu 37 7 100229530 100229530 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100229530G>A ENST00000462107.1 - 9 1292 c.1005C>T c.(1003-1005)ttC>ttT p.F335F TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000223051.3_Silent_p.F335F Q9UP52 TFR2_HUMAN transferrin receptor 2 335 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGAAGGAAGGGAAGCCAGGTG 0.582000 6 69 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990302 63990302 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:63990302C>T ENST00000370657.4 - 4 1187 c.1154G>A c.(1153-1155)gGa>gAa p.G385E LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 385 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTCATTGTATCCCCATGTTGT 0.463000 9 113 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90349759 90349759 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:90349759C>T ENST00000300060.6 - 2 369 c.56G>A c.(55-57)gGc>gAc p.G19D NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 19 angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GGCTGCCACGCCCAGGAGGAT 0.627000 12 61 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152832184 152832184 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152832184C>T ENST00000367255.5 - 7 965 c.364G>A c.(364-366)Gtt>Att p.V122I SYNE1_ENST00000265368.4_Missense_Mutation_p.V122I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V129I|SYNE1_ENST00000466159.2_Missense_Mutation_p.V122I|SYNE1_ENST00000413186.2_Missense_Mutation_p.V122I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V129I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V122I|SYNE1_ENST00000367253.4_Missense_Mutation_p.V122I|SYNE1_ENST00000367248.3_Missense_Mutation_p.V129I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 122 Actin-binding.|CH 1. 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) AATCCAAGAACTATTGAGGGT 0.373000 HNSCC(10;0.0054) 11 192 0 0 1 0 0 C10orf113 387638 broad.mit.edu 37 10 21414942 21414942 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:21414942C>T ENST00000534331.1 - 2 328 c.278G>A c.(277-279)aGa>aAa p.R93K C10orf113_ENST00000529198.1_3'UTR|C10orf113_ENST00000377118.4_Missense_Mutation_p.R83K|NEBL_ENST00000417816.2_Intron NM_001010896.2 NP_001010896.2 Q5VZT2 CJ113_HUMAN chromosome 10 open reading frame 113 93 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 GAAGCTGACTCTCCGCAGCCA 0.622000 12 55 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427918 197427918 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:197427918G>A ENST00000273582.5 - 7 1192 c.647C>T c.(646-648)cCc>cTc p.P216L KIAA0226_ENST00000389665.5_Missense_Mutation_p.P276L|KIAA0226_ENST00000296343.5_Missense_Mutation_p.P276L|KIAA0226_ENST00000449205.1_Missense_Mutation_p.P276L NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 276 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TGAAACTGGGGGGGCTTGGAT 0.552000 14 82 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833876 61833876 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61833876G>A ENST00000280772.1 - 37 6954 c.6763C>T c.(6763-6765)Cat>Tat p.H2255Y ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2255 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGTGGAGAATGATAAACCATT 0.463000 15 73 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 112888 112888 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:112888G>A ENST00000262316.6 - 6 822 c.680C>T c.(679-681)tCc>tTc p.S227F RHBDF1_ENST00000454039.2_Missense_Mutation_p.S227F NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 227 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) ATCCCTAACGGAGCGGCCCTG 0.642000 12 77 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44253758 44253758 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:44253758G>A ENST00000371505.4 - 3 911 c.789C>T c.(787-789)ttC>ttT p.F263F TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.F110F|TCTE1_ENST00000371503.3_Silent_p.F110F NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 263 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CACGGTAGGTGAAGAGGAAGA 0.592000 6 92 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773416 141773416 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141773416C>T ENST00000389484.3 - 13 3010 c.2039G>A c.(2038-2040)tGg>tAg p.W680* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 680 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) TCCATCCATCCAGGCCTTCTC 0.408000 TSP Lung(27;0.18) 8 94 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183778092 183778092 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:183778092C>T ENST00000318351.1 + 9 1330 c.1296C>T c.(1294-1296)ctC>ctT p.L432L NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 432 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCTACCTGCTCTTCATGGCCT 0.562000 17 220 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497628 1497628 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:1497628G>A ENST00000421627.2 + 2 903 c.769G>A c.(769-771)Gac>Aac p.D257N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 336 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCCTTCGGGGACCTGTCCCT 0.672000 13 111 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991579 70991579 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:70991579G>A ENST00000256389.3 - 2 290 c.46C>T c.(46-48)Cag>Tag p.Q16* RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 0 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GTGCATGGCTGACCTTTAGGG 0.537000 8 119 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9266038 9266038 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:9266038G>A ENST00000318602.7 - 2 495 c.188C>T c.(187-189)tCc>tTc p.S63F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 63 Missing (in Ref. 8; AA sequence). 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) AGACTCCAAGGAAGCACTTAC 0.542000 5 83 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140866065 140866065 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:140866065C>T ENST00000310546.2 + 3 1520 c.776C>T c.(775-777)tCc>tTc p.S259F SPSB4_ENST00000507895.1_3'UTR NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 259 SOCS box. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GACATCAGCTCCCTGCCCCTG 0.637000 14 32 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20541109 20541109 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:20541109C>T ENST00000504154.1 + 19 2130 c.1878C>T c.(1876-1878)ttC>ttT p.F626F SLIT2_ENST00000503823.1_Silent_p.F618F|SLIT2_ENST00000503837.1_Silent_p.F622F|SLIT2_ENST00000273739.5_Silent_p.F630F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 626 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATGACAGTTTCATAGGACTCA 0.393000 10 37 0 0 1 0 0 CHMP1A 5119 broad.mit.edu 37 16 89715851 89715851 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:89715851G>A ENST00000397901.3 - 4 416 c.160C>T c.(160-162)Cgc>Tgc p.R54C CHMP1A_ENST00000550102.1_Missense_Mutation_p.R54C|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.P47L NM_002768.3 NP_002759.2 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 54 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) TTCTTCTTGCGGATGGCGTTC 0.582000 8 62 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148964214 148964214 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:148964214C>T ENST00000434415.1 + 4 737 c.574C>T c.(574-576)Ctc>Ttc p.L192F NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 192 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) ACCAGACATCCTCACCCGGAT 0.547000 5 43 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057008 94057008 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:94057008G>A ENST00000297268.6 + 49 3808 c.3337G>A c.(3337-3339)Gat>Aat p.D1113N NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1113 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTTTGGTTACGATGGAGACTT 0.547000 HNSCC(75;0.22) 10 86 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43371290 43371290 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43371290G>A ENST00000436291.2 - 6 1372 c.1256C>T c.(1255-1257)cCc>cTc p.P419L PSG1_ENST00000403380.3_Missense_Mutation_p.P326L|PSG1_ENST00000595356.1_Intron|PSG1_ENST00000595124.1_Intron NM_001184825.1|NM_001184826.1 NP_001171754.1|NP_001171755.1 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) tagaattcagggaactgtcca 0.408000 19 69 0 0 1 0 0 IL31 386653 broad.mit.edu 37 12 122657205 122657205 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:122657205G>A ENST00000377035.1 - 3 275 c.249C>T c.(247-249)atC>atT p.I83I NM_001014336.1 NP_001014358.1 Q6EBC2 IL31_HUMAN interleukin 31 83 extracellular space cytokine activity central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) CTGGGCTGTGGATGTTGTTTG 0.512000 8 32 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120707541 120707541 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:120707541C>T ENST00000527524.2 + 8 1019 c.732C>T c.(730-732)atC>atT p.I244I GRIK4_ENST00000438375.2_Silent_p.I244I Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 244 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ACACATACATCTTCACTAATC 0.443000 5 95 0 0 1 0 0 USB1 79650 broad.mit.edu 37 16 58036399 58036399 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:58036399C>T ENST00000219281.3 + 2 226 c.115C>T c.(115-117)Ccc>Tcc p.P39S USB1_ENST00000563149.1_Missense_Mutation_p.P39S|USB1_ENST00000561743.1_5'UTR|USB1_ENST00000423271.3_Missense_Mutation_p.P39S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Missense_Mutation_p.P39S NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 GAGCCCCCTTCCCAGGCAGAG 0.493000 12 93 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1914070 1914070 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:1914070C>T ENST00000399161.2 - 13 2506 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K MYT1L_ENST00000428368.2_Missense_Mutation_p.E585K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 587 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) TGGTGCTTTTCCTGTGCCTTG 0.592000 5 47 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50531855 50531855 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50531855C>T ENST00000374144.3 + 3 1553 c.1265C>T c.(1264-1266)tCa>tTa p.S422L C10orf71_ENST00000323868.4_Missense_Mutation_p.S422L Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 422 endometrium(1) 1 GAACAGTTTTCAGAAAACAAT 0.448000 6 105 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951839 46951839 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:46951839G>A ENST00000311124.4 - 3 565 c.413C>T c.(412-414)tCc>tTc p.S138F SLC19A1_ENST00000380010.4_Missense_Mutation_p.S138F|SLC19A1_ENST00000485649.2_Missense_Mutation_p.S98F|SLC19A1_ENST00000567670.1_Missense_Mutation_p.S138F NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 138 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GAAGATGTAGGAGGAATAGGC 0.672000 3 10 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732185 92732185 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92732185G>A ENST00000379958.2 - 3 3495 c.3226C>T c.(3226-3228)Cat>Tat p.H1076Y NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1076 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTGAACCGATGGATACTTTCA 0.383000 5 45 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15519731 15519731 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:15519731G>A ENST00000382020.4 + 5 842 c.634G>A c.(634-636)Gga>Aga p.G212R TUSC3_ENST00000509380.1_Missense_Mutation_p.G212R|TUSC3_ENST00000506802.1_Missense_Mutation_p.G212R|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.G212R NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 212 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GTCGCTTGTTGGAGGTTTGCT 0.393000 8 68 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25921500 25921500 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:25921500C>T ENST00000377850.3 - 4 905 c.381G>A c.(379-381)ctG>ctA p.L127L SLC17A2_ENST00000360488.3_Silent_p.L127L|SLC17A2_ENST00000265425.3_Silent_p.L127L O00624 NPT3_HUMAN solute carrier family 17, member 2 127 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GGGAAGAGATCAGCAAACCAG 0.468000 5 60 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112420872 112420872 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:112420872G>A ENST00000302475.4 - 7 1527 c.964C>T c.(964-966)Ccc>Tcc p.P322S MCC_ENST00000515367.2_Missense_Mutation_p.P259S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.P512S NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 322 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTGGCGATGGGAATGTCATTG 0.612000 5 111 0 0 1 0 0 THUMPD2 80745 broad.mit.edu 37 2 39964115 39964115 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:39964115G>A ENST00000505747.1 - 10 1299 c.1272C>T c.(1270-1272)atC>atT p.I424I THUMPD2_ENST00000260619.6_Silent_p.I394I NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 424 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) AATTGAAAGGGATGTTGCTCT 0.408000 16 79 0 0 1 0 0 FBXO9 26268 broad.mit.edu 37 6 52960377 52960377 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:52960377C>T ENST00000244426.6 + 11 1322 c.1150C>T c.(1150-1152)Cat>Tat p.H384Y FBXO9_ENST00000370939.3_Missense_Mutation_p.H340Y|FBXO9_ENST00000323557.7_Missense_Mutation_p.H374Y NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 384 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) TCAGAGTTTTCATGTGGGGCT 0.378000 8 50 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746553 95746553 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:95746553G>A ENST00000311106.3 - 8 1257 c.1020C>T c.(1018-1020)tcC>tcT p.S340S PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.S293S NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 340 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGTACCAGGGGGATAGGCCTT 0.537000 40 148 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032328 30032328 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:30032328C>T ENST00000328224.6 - 2 3131 c.1898G>A c.(1897-1899)gGg>gAg p.G633E NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 633 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ACTGTCATCCCCCTTTCCCTG 0.473000 6 88 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905118 55905118 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55905118G>A ENST00000301529.1 - 1 76 c.77C>T c.(76-78)cCc>cTc p.P26L NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CAGGAAGAGGGGAATCTGGAG 0.498000 5 94 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102793024 102793024 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:102793024C>T ENST00000410023.1 + 12 1833 c.1515C>T c.(1513-1515)ttC>ttT p.F505F IL1R1_ENST00000233946.3_Silent_p.F505F|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Silent_p.F474F|AC007271.3_ENST00000428188.1_RNA P14778 IL1R1_HUMAN interleukin 1 receptor, type I 505 TIR. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CGATTAAATTCATTAAGCAGA 0.438000 6 37 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71204985 71204985 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:71204985C>T ENST00000554752.2 - 8 1820 c.1821G>A c.(1819-1821)aaG>aaA p.K607K MAP3K9_ENST00000554146.1_Silent_p.K344K|MAP3K9_ENST00000381250.4_Silent_p.K607K|MAP3K9_ENST00000555993.2_Silent_p.K607K|MAP3K9_ENST00000553414.1_Silent_p.K349K P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 607 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) AGGCAAGCTCCTTCTGACCAA 0.512000 12 66 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147967479 147967479 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:147967479C>T ENST00000370460.2 + 8 1802 c.1323C>T c.(1321-1323)acC>acT p.T441T AFF2_ENST00000370458.1_Silent_p.T402T|AFF2_ENST00000286437.5_Silent_p.T82T|AFF2_ENST00000342251.3_Silent_p.T408T|AFF2_ENST00000370457.5_Silent_p.T408T NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 441 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGACCTTGACCACTC 0.493000 48 149 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508551 106508551 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:106508551C>T ENST00000359195.3 + 2 855 c.545C>T c.(544-546)aCc>aTc p.T182I PIK3CG_ENST00000496166.1_Missense_Mutation_p.T182I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T182I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 182 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGCTTGGTGACCCCGCGCATG 0.647000 10 52 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224344 248224344 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248224344C>T ENST00000359959.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGCCTATGATCGTTACATTGC 0.443000 28 143 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065338 73065338 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73065338G>A ENST00000429829.1 - 0 7250 NR_001564.2 GAAGGGAAAGGAAGATTGGAG 0.463000 8 81 0 0 1 0 0 GPR161 23432 broad.mit.edu 37 1 168065882 168065882 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:168065882G>A ENST00000367838.1 - 5 1276 c.963C>T c.(961-963)ccC>ccT p.P321P GPR161_ENST00000367836.1_Silent_p.P189P|GPR161_ENST00000361697.2_Silent_p.P321P|GPR161_ENST00000546300.1_Silent_p.P207P|GPR161_ENST00000537209.1_Silent_p.P341P|GPR161_ENST00000367835.1_Silent_p.P321P|GPR161_ENST00000271357.5_Silent_p.P321P|GPR161_ENST00000539777.1_Silent_p.P243P NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 321 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) CATAGATCAGGGGGTGGCAGA 0.567000 5 82 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 613253 613253 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:613253C>T ENST00000251287.2 + 6 1643 c.1590C>T c.(1588-1590)atC>atT p.I530I NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 530 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCAGGAGATCGTCAACTTCA 0.672000 3 19 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564272 176564272 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176564272C>T ENST00000367662.3 + 3 2696 c.1532C>T c.(1531-1533)tCc>tTc p.S511F PAPPA2_ENST00000367661.3_Missense_Mutation_p.S511F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 511 Metalloprotease. 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 GAATTGATCTCCCAGTACAAT 0.532000 8 42 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337715 102337715 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:102337715C>T ENST00000395065.3 - 8 854 c.753G>A c.(751-753)ctG>ctA p.L251L NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.L162L NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 251 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CATGGACGTCCAGGGAGGCAG 0.488000 24 71 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26589851 26589851 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26589851C>T ENST00000376261.3 + 16 2222 c.1719C>T c.(1717-1719)ttC>ttT p.F573F GAD2_ENST00000259271.3_Silent_p.F573F NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 573 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ACATTGACTTCCTGATTGAAG 0.438000 8 76 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968190 35968190 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:35968190G>A ENST00000274278.3 - 3 599 c.242C>T c.(241-243)tCa>tTa p.S81L UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000513233.1_Intron NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 81 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCTTCAGGTGAAAACCACCT 0.318000 3 17 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125625 12125625 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:12125625C>T ENST00000379388.2 + 4 5929 c.5597C>T c.(5596-5598)tCa>tTa p.S1866L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1866 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCATCCACATCATTAACTCTT 0.363000 19 62 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41243916 41243916 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:41243916G>A ENST00000309486.4 - 9 3771 c.2744C>T c.(2743-2745)tCc>tTc p.S915F BRCA1_ENST00000471181.2_Missense_Mutation_p.S1211F|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1164F|BRCA1_ENST00000357654.3_Missense_Mutation_p.S1211F|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1211 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CTCTTCTGAGGACTCTAATTT 0.448000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 6 43 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111409716 111409716 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:111409716C>T ENST00000265162.5 + 2 1006 c.664C>T c.(664-666)Cat>Tat p.H222Y NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 222 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GGCCACCGATCATGAACCAAC 0.418000 5 21 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567272 4567272 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4567272C>T ENST00000360213.1 + 1 852 c.852C>T c.(850-852)ctC>ctT p.L284L NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTTCTATCTCCTCATTCCTC 0.463000 5 64 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33016187 33016187 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:33016187C>T ENST00000280979.4 + 4 2498 c.2328C>T c.(2326-2328)gcC>gcT p.A776A AKAP6_ENST00000557354.1_Silent_p.A776A|AKAP6_ENST00000557272.1_Silent_p.A776A NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 776 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) ACTATGAAGCCATATGGGAAA 0.393000 5 81 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30745677 30745677 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30745677C>T ENST00000217315.5 + 14 1699 c.1359C>T c.(1357-1359)ttC>ttT p.F453F TM9SF4_ENST00000398022.2_Silent_p.F470F Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 470 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCTACTACTTCGGCTTCCGAA 0.582000 10 159 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216465577 216465577 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:216465577G>A ENST00000366943.2 - 10 2166 c.1780C>T c.(1780-1782)Cct>Tct p.P594S USH2A_ENST00000366942.3_Missense_Mutation_p.P594S|USH2A_ENST00000307340.3_Missense_Mutation_p.P594S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 594 Laminin EGF-like 2. 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) TGCTCAAAAGGAAATGGGTCT 0.433000 HNSCC(13;0.011) 7 84 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133574 22133574 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22133574C>T ENST00000408935.1 + 1 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) AAGACCATTTCCTTTGACAAC 0.438000 28 224 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100348419 100348419 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100348419G>A ENST00000542585.1 + 0 1569 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGTCCTGCGGGGAGTCCCCCG 0.617000 6 16 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82434986 82434986 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82434986G>A ENST00000370728.1 + 17 3281 c.2636G>A c.(2635-2637)cGa>cAa p.R879Q LPHN2_ENST00000370727.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R879Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R866Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R879Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R879Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R879Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R866Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R804Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R866Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R866Q O95490 LPHN2_HUMAN latrophilin 2 879 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.R866Q(1)|p.R879Q(1) 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) CAGAGTGACCGAAATACTATT 0.408000 16 87 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38891805 38891805 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38891805C>T ENST00000359357.3 + 71 10432 c.10178C>T c.(10177-10179)tCc>tTc p.S3393F RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3357F|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3610F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGATTCCTTTCCTACCTTGGT 0.423000 14 86 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848969 73848969 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:73848969G>A ENST00000523207.1 + 3 1967 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 460 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) GCCTTCGCTCGAAGTATGGAA 0.512000 18 90 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368779 18368779 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:18368779G>A ENST00000392413.3 - 4 3530 c.3315C>T c.(3313-3315)tcC>tcT p.S1105S KIAA1683_ENST00000600359.2_Silent_p.S872S|KIAA1683_ENST00000600328.2_Silent_p.S918S NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 1113 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGCCTGCATGGACACCATTG 0.692000 23 107 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167322348 167322348 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:167322348G>A ENST00000409855.1 - 7 940 c.814C>T c.(814-816)Caa>Taa p.Q272* NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 272 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.Q272*(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TCATTCTCTTGGGGCCATCGA 0.378000 11 63 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164757744 164757744 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:164757744C>T ENST00000264382.3 - 19 2237 c.2175G>A c.(2173-2175)acG>acA p.T725T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 725 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCCAGCTGTTCGTATCCTCAT 0.333000 HNSCC(35;0.089) 9 98 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185142 24185142 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:24185142C>T ENST00000396671.2 - 8 936 c.588G>A c.(586-588)cgG>cgA p.R196R THRB_ENST00000280696.5_Silent_p.R211R|THRB_ENST00000356447.4_Silent_p.R196R|THRB_ENST00000416420.1_Silent_p.R196R NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 196 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTTTCTCCCGGTTCTCCT 0.567000 13 58 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38883966 38883966 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38883966C>T ENST00000274276.3 + 5 858 c.456C>T c.(454-456)ttC>ttT p.F152F OSMR_ENST00000502536.1_Silent_p.F152F NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 152 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGTTCGTTTTCCCTAAAGATA 0.353000 13 46 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100887645 100887645 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:100887645G>A ENST00000395996.1 + 63 11998 c.e63-1 VPS13B_ENST00000357162.2_Splice_Site|VPS13B_ENST00000358544.2_Splice_Site Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 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) TTGGATCCTAGGTAGATGGAG 0.423000 9 152 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53740875 53740875 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53740875G>A ENST00000333952.4 - 5 1270 c.1105C>T c.(1105-1107)Cat>Tat p.H369Y ZNF677_ENST00000598513.1_Missense_Mutation_p.H369Y Q86XU0 ZN677_HUMAN zinc finger protein 677 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TCTCCAGTATGAATTCTTTCA 0.408000 12 47 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135649738 135649738 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:135649738G>A ENST00000520727.1 - 4 677 c.378C>T c.(376-378)atC>atT p.I126I ZFAT_ENST00000520214.1_Silent_p.I126I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000429442.2_Silent_p.I126I NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AATTCAGCACGATAATGCAGA 0.507000 7 91 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073620 197073620 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197073620G>A ENST00000367409.4 - 18 5017 c.4761C>T c.(4759-4761)atC>atT p.I1587I ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1587 IQ 3. 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 CCTGAAATTTGATAATAGTCT 0.318000 5 34 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99296284 99296284 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:99296284G>A ENST00000375241.1 - 9 1322 c.871C>T c.(871-873)Cct>Tct p.P291S CDC14B_ENST00000463569.1_Missense_Mutation_p.P291S|CDC14B_ENST00000375240.3_Missense_Mutation_p.P291S|CDC14B_ENST00000375236.1_Missense_Mutation_p.P291S|CDC14B_ENST00000265659.2_Missense_Mutation_p.P291S|CDC14B_ENST00000375242.3_Missense_Mutation_p.P254S NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 291 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GCATCAGTAGGGGTGCTGCCA 0.428000 3 14 0 0 1 0 0 RNGTT 8732 broad.mit.edu 37 6 89554233 89554233 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:89554233G>A ENST00000369485.4 - 11 1298 c.1112C>T c.(1111-1113)cCc>cTc p.P371L RNGTT_ENST00000369475.3_Missense_Mutation_p.P371L|RNGTT_ENST00000538899.1_Missense_Mutation_p.P311L|RNGTT_ENST00000265607.6_Missense_Mutation_p.P371L NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 371 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) ATCTCCAACGGGCTGTGACTG 0.338000 5 75 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161322755 161322755 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:161322755G>A ENST00000428797.2 + 10 1295 c.940G>A c.(940-942)Gat>Aat p.D314N GABRA1_ENST00000437025.2_Missense_Mutation_p.D314N|GABRA1_ENST00000444819.1_Missense_Mutation_p.D314N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D314N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D314N|GABRA1_ENST00000393943.4_Missense_Mutation_p.D314N NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 314 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AACAGCTATGGATTGGTTTAT 0.428000 13 50 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563428 75563428 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:75563428G>A ENST00000336257.3 - 3 2249 c.855C>T c.(853-855)ttC>ttT p.F285F CHST5_ENST00000541075.1_Silent_p.F291F|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 285 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GGCCGCGCAGGAAGGGTGGCG 0.716000 9 91 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195518081 195518081 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:195518081G>A ENST00000463781.3 - 2 829 c.370C>T c.(370-372)Ccc>Tcc p.P124S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P124S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 129 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACACTGGAGGGAAATGATGTG 0.453000 5 55 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153303344 153303344 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:153303344G>A ENST00000368739.3 - 9 1367 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S PGLYRP4_ENST00000359650.5_Missense_Mutation_p.P341S Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 341 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGTAGTTGGGAGTCAGGTAC 0.547000 5 95 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85406132 85406132 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:85406132G>A ENST00000258888.5 + 10 5169 c.5002G>A c.(5002-5004)Gac>Aac p.D1668N NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1668 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGAAACTACGACGTCACCAT 0.552000 19 68 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22319543 22319543 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:22319543G>A ENST00000299853.5 + 4 329 c.162G>A c.(160-162)caG>caA p.Q54Q POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Silent_p.Q54Q|POLR3E_ENST00000418581.2_Silent_p.Q18Q|POLR3E_ENST00000359210.4_Silent_p.Q54Q NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 54 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CCAAGCAGCAGAAGGTGGGGC 0.602000 10 48 0 0 1 0 0 CCL16 6360 broad.mit.edu 37 17 34305272 34305272 + Missense_Mutation SNP G G A rs111316280 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:34305272G>A ENST00000293275.3 - 2 179 c.104C>T c.(103-105)tCc>tTc p.S35F NM_004590.2 NP_004581.1 O15467 CCL16_HUMAN chemokine (C-C motif) ligand 16 35 cell-cell signaling|immune response|inflammatory response extracellular space chemoattractant activity|chemokine activity endometrium(1)|lung(2) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCAGCAGGTGGATGGGGTGTT 0.532000 7 176 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156626166 156626166 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:156626166G>A ENST00000329117.4 + 9 2371 c.2035G>A c.(2035-2037)Gac>Aac p.D679N RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 679 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATGGGGGGGACCTGTGCGA 0.622000 9 108 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579825 179579825 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179579825G>A ENST00000589042.1 - 90 26312 c.26088C>T c.(26086-26088)ttC>ttT p.F8696F TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.F8379F|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.F7452F|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8379 Ig-like 69. 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) TACTGGTTAGGAAGTTCTCAG 0.453000 12 206 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131755900 131755900 + Missense_Mutation SNP C C T rs148734941 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:131755900C>T ENST00000372577.2 + 27 2965 c.2944C>T c.(2944-2946)Cgt>Tgt p.R982C NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 982 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CCTGCTGCATCGTGCCGCCAT 0.557000 8 55 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366960 248366960 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248366960G>A ENST00000456743.1 + 1 629 c.591G>A c.(589-591)aaG>aaA p.K197K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K197N(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TATTTGAAAAGATTCTTTTCA 0.428000 16 199 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69002947 69002947 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:69002947G>A ENST00000288368.4 + 20 2524 c.2247G>A c.(2245-2247)acG>acA p.T749T PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 749 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.T749T(2)|p.K750*(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGCGGCCAACGAAGGTAAGTG 0.473000 6 38 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10391870 10391870 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:10391870C>T ENST00000397077.1 - 15 2770 c.2195G>A c.(2194-2196)cGa>cAa p.R732Q ATP2B2_ENST00000343816.4_Missense_Mutation_p.R763Q|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R777Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R732Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R777Q Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 777 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CTTGTCAATTCGCTCCTGCTC 0.612000 3 17 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41834751 41834751 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:41834751C>T ENST00000396930.3 - 8 1681 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K KAT6A_ENST00000406337.1_Missense_Mutation_p.E380K|KAT6A_ENST00000485568.1_Missense_Mutation_p.E380K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E380K NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 380 Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TATCCTTCTTCTGATGATGAT 0.443000 7 80 0 0 1 0 0 NKG7 4818 broad.mit.edu 37 19 51875762 51875762 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51875762G>A ENST00000221978.5 - 1 207 c.28C>T c.(28-30)Ctg>Ttg p.L10L NKG7_ENST00000595217.1_Silent_p.L10L|NKG7_ENST00000600427.1_Silent_p.L10L NM_005601.3 NP_005592.1 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 10 integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GAGCCCCCCAGCAGGGCCAGG 0.602000 7 68 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 60 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81221462 81221462 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:81221462G>A ENST00000394685.3 + 21 2978 c.2559G>A c.(2557-2559)agG>agA p.R853R RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.R853R|KIAA1199_ENST00000356249.5_Silent_p.R853R Q8WUJ3 K1199_HUMAN KIAA1199 853 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGACAATAGGATCTGGGGCC 0.527000 11 60 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180721 142180721 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142180721C>T ENST00000390368.2 - 0 203 ATTCATGGTTCATATCCTGGG 0.517000 14 499 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940123 31940123 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31940123G>A ENST00000375331.2 + 2 431 c.265G>A c.(265-267)Gac>Aac p.D89N STK19_ENST00000375333.2_Missense_Mutation_p.D89N NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 89 D -> N (in a metastatic melanoma sample; somatic mutation). nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.D89N(4) skin(5)|upper_aerodigestive_tract(2) 7 TGCGCCGGAAGACCCTATTTT 0.582000 6 119 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46306716 46306716 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:46306716G>A ENST00000397850.2 - 16 2634 c.2182C>T c.(2182-2184)Cac>Tac p.H728Y ITGB2_ENST00000302347.5_Missense_Mutation_p.H728Y|ITGB2_ENST00000355153.4_Missense_Mutation_p.H728Y|ITGB2_ENST00000397857.1_Missense_Mutation_p.H728Y|ITGB2_ENST00000397852.1_Missense_Mutation_p.H728Y|ITGB2_ENST00000397854.3_Missense_Mutation_p.H671Y P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 728 apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TCGCTCAGGTGGATCAGAGCC 0.622000 11 48 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151085536 151085536 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:151085536C>T ENST00000474524.1 + 22 3363 c.3325C>T c.(3325-3327)Ccc>Tcc p.P1109S MED12L_ENST00000273432.4_Missense_Mutation_p.P969S|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1109 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTCGCACTTCCCTCTCTTCT 0.453000 14 150 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51007790 51007790 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:51007790G>A ENST00000360719.2 - 19 2433 c.2296C>T c.(2296-2298)Caa>Taa p.Q766* CPT1B_ENST00000440709.1_Nonsense_Mutation_p.Q685*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.Q732*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.Q561*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.Q766*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.Q766*|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.Q766* NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 766 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TTGGGAACTTGGAAAAGATCA 0.547000 7 114 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130744046 130744046 + Silent SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:130744046A>C ENST00000264992.3 - 3 546 c.105T>G c.(103-105)ctT>ctG p.L35L ASTE1_ENST00000514044.1_Silent_p.L35L NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 35 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 GACGGTGGAAAAGAGCATAAC 0.388000 37 111 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56243721 56243721 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56243721C>T ENST00000332836.2 - 2 1503 c.1476G>A c.(1474-1476)ggG>ggA p.G492G NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 492 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ACATGAATATCCCCACCTGGG 0.463000 13 101 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28540061 28540061 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:28540061C>T ENST00000452236.2 - 4 4222 c.3605G>A c.(3604-3606)gGa>gAa p.G1202E NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1202 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 ccacaaatttcctatgcgtgg 0.328000 5 9 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55545306 55545306 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55545306G>A ENST00000294383.6 - 60 7104 c.7105C>T c.(7105-7107)Ccc>Tcc p.P2369S USP24_ENST00000407756.1_Missense_Mutation_p.P2209S NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2369 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 ATGCTAATGGGTGGTCGTTGC 0.458000 24 98 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135429879 135429879 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135429879G>A ENST00000394143.1 + 6 4305 c.4014G>A c.(4012-4014)caG>caA p.Q1338Q GPR112_ENST00000287534.4_Silent_p.Q1275Q|GPR112_ENST00000394141.1_Silent_p.Q1133Q|GPR112_ENST00000412101.1_Silent_p.Q1133Q|GPR112_ENST00000370652.1_Silent_p.Q1338Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1338 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GAAGCACACAGATTACACCAA 0.458000 18 81 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114441696 114441696 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:114441696T>A ENST00000375478.3 - 6 1779 c.1599A>T c.(1597-1599)ggA>ggT p.G533G NXPE4_ENST00000424261.2_Silent_p.G249G NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 TAATCTGATTTCCGACTACAT 0.318000 12 40 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31583432 31583432 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31583432G>A ENST00000356173.3 - 8 619 c.527C>T c.(526-528)tCc>tTc p.S176F SUN5_ENST00000375523.3_Missense_Mutation_p.S151F NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 176 spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CACCTCATCGGACATGGCTTC 0.483000 6 146 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169792790 169792790 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:169792790A>G ENST00000263817.6 - 22 2888 c.2764T>C c.(2764-2766)Ttg>Ctg p.L922L NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 922 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AATCCTGTCAACATCCTGGTC 0.502000 9 37 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262110 158262110 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158262110C>T ENST00000368170.3 + 3 844 c.565C>T c.(565-567)Ctc>Ttc p.L189F NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 189 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) CCCCCGATTTCTCTTGGGTCT 0.453000 32 371 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112765986 112765986 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:112765986G>A ENST00000295408.4 + 14 2151 c.1894G>A c.(1894-1896)Gag>Aag p.E632K MERTK_ENST00000409780.1_Missense_Mutation_p.E456K|MERTK_ENST00000421804.2_Missense_Mutation_p.E632K Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 632 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCGGGAGATCGAGGAGTTTCT 0.473000 3 59 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414721 105414721 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:105414721G>A ENST00000333244.5 - 7 7186 c.7067C>T c.(7066-7068)tCc>tTc p.S2356F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2356 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGGCT 0.617000 49 166 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904277 73904277 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:73904277C>T ENST00000342056.2 + 15 2394 c.1996C>T c.(1996-1998)Cca>Tca p.P666S KCNQ5_ENST00000414165.2_Missense_Mutation_p.P537S|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P638S|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P657S|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P647S|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P648S|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P647S NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 647 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATTCCAGATCCCACCTTTTGA 0.483000 4 68 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511188 4511188 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4511188C>T ENST00000301286.3 - 3 2741 c.2742G>A c.(2740-2742)aaG>aaA p.K914K NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 914 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 AGACGGTGTCCTTGGTACCGG 0.602000 8 93 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20122583 20122583 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:20122583C>T ENST00000396085.1 + 33 6652 c.6291C>T c.(6289-6291)atC>atT p.I2097I NAV2_ENST00000527559.2_Silent_p.I2082I|NAV2_ENST00000311043.8_Silent_p.I1158I|NAV2_ENST00000349880.4_Silent_p.I2094I|NAV2_ENST00000360655.4_Silent_p.I2030I|NAV2_ENST00000540292.1_Silent_p.I2084I|NAV2_ENST00000533917.1_Silent_p.I1158I|NAV2_ENST00000396087.3_Silent_p.I2153I NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2153 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 ACCGTCGGATCATTCTCTCTG 0.572000 18 118 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012881 29012881 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29012881C>T ENST00000377175.1 - 1 136 c.72G>A c.(70-72)gaG>gaA p.E24E NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 ACAGGATCATCTCCATTTTTG 0.408000 10 104 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754487 49754487 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:49754487C>T ENST00000304801.3 - 1 566 c.414G>A c.(412-414)aaG>aaA p.K138K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 138 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTTTAATCTTCTTTCCAGAGG 0.512000 6 97 0 0 1 0 0 DEFB125 245938 broad.mit.edu 37 20 76939 76939 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:76939C>T ENST00000382410.2 + 2 352 c.352C>T c.(352-354)Cct>Tct p.P118S NM_153325.2 NP_697020.2 Q8N687 DB125_HUMAN defensin, beta 125 118 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) GACCAATACTCCTGAGACTAC 0.458000 26 157 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131480861 131480861 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:131480861C>T ENST00000291906.4 + 18 2475 c.2082C>T c.(2080-2082)gcC>gcT p.A694A PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 694 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 TGCTGGATGCCCAGGGATTCC 0.567000 7 77 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861169 55861169 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55861169C>T ENST00000302124.2 + 1 417 c.386C>T c.(385-387)cCc>cTc p.P129L OR8I2_ENST00000560768.1_Missense_Mutation_p.P129L Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) ATCTGCAATCCCTTACTGTAT 0.443000 4 100 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76867787 76867787 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76867787G>A ENST00000409709.3 + 6 824 c.552G>A c.(550-552)tgG>tgA p.W184* MYO7A_ENST00000458637.2_Nonsense_Mutation_p.W184*|MYO7A_ENST00000409619.2_Nonsense_Mutation_p.W173*|MYO7A_ENST00000409893.1_Nonsense_Mutation_p.W184* NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 184 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCACTCGTGGATTGAGCAGC 0.637000 8 91 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71026020 71026020 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:71026020G>A ENST00000393567.2 - 24 3888 c.3738C>T c.(3736-3738)atC>atT p.I1246I HYDIN_ENST00000448089.2_Silent_p.I1198I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1246 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTGTAACTAGGATTGCTGGTG 0.458000 8 32 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151164328 151164328 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:151164328T>G ENST00000282466.3 - 4 3440 c.3441A>C c.(3439-3441)ccA>ccC p.P1147P NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1147 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTATGGATGTTGGAGCATATG 0.413000 17 245 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657761 143657761 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143657761G>A ENST00000392899.1 + 1 735 c.698G>A c.(697-699)gGa>gAa p.G233E NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TCCAGAGAAGGAAGAAAGAAA 0.498000 10 81 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38884065 38884065 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38884065G>A ENST00000274276.3 + 5 957 c.555G>A c.(553-555)caG>caA p.Q185Q OSMR_ENST00000502536.1_Silent_p.Q185Q NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 185 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AAGGGAAACAGATTCATGGAG 0.373000 27 74 0 0 1 0 0 ZNF398 57541 broad.mit.edu 37 7 148876588 148876588 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:148876588C>T ENST00000420008.2 + 6 1899 c.1111C>T c.(1111-1113)Cct>Tct p.P371S ZNF398_ENST00000335901.4_Missense_Mutation_p.P371S|ZNF398_ENST00000491174.1_Missense_Mutation_p.P371S|ZNF398_ENST00000426851.2_Missense_Mutation_p.P371S|ZNF398_ENST00000483892.1_Missense_Mutation_p.P371S|ZNF398_ENST00000475153.1_Missense_Mutation_p.P542S|ZNF398_ENST00000540950.1_Missense_Mutation_p.P547S NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 542 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) CTTCAGTTGTCCTCACTGTGG 0.617000 6 93 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261885 125261885 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:125261885C>T ENST00000431078.1 + 8 1440 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 359 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTCACTTTTTCCTGCTCCGAA 0.463000 17 58 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89866725 89866725 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:89866725G>A ENST00000268124.5 - 13 2508 c.2175C>T c.(2173-2175)ccC>ccT p.P725P POLG_ENST00000442287.2_Silent_p.P725P NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 725 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GGGTGTCCTTGGGGCCACCAC 0.597000 DNA polymerases (catalytic subunits) 6 37 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69478691 69478691 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:69478691G>A ENST00000374519.2 - 1 963 c.784C>T c.(784-786)Cac>Tac p.H262Y NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 262 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 CGGGTGATGTGGAAAGGCACG 0.567000 3 17 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10587104 10587104 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:10587104C>T ENST00000381902.2 - 3 318 c.312G>A c.(310-312)ccG>ccA p.P104P KLRC2_ENST00000381901.1_Intron|NKG2-E_ENST00000539033.1_Silent_p.P104P|KLRC2_ENST00000536833.2_Silent_p.P45P NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 104 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TTCTTGTATTCGGGGAAAAAT 0.284000 4 86 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43921606 43921606 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:43921606G>A ENST00000282406.4 + 5 483 c.373G>A c.(373-375)Gag>Aag p.E125K NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 125 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AATAATAGAAGAGAAAGCAGC 0.274000 4 57 0 0 1 0 0 SH3GL3 6457 broad.mit.edu 37 15 84287021 84287021 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:84287021C>T ENST00000324537.5 + 12 1542 c.1050C>T c.(1048-1050)atC>atT p.I350I SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.I350I|SH3GL3_ENST00000427482.2_Silent_p.I342I Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 342 central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 TGGAAGTGATCGTGCCTTTAC 0.408000 11 54 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43058278 43058278 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43058278G>A ENST00000316099.3 + 10 1487 c.1398G>A c.(1396-1398)ccG>ccA p.P466P HNF4A_ENST00000415691.1_Silent_p.P456P|HNF4A_ENST00000457232.1_Silent_p.P434P NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 466 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCCCCAGCCGACCATCACCA 0.647000 14 94 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196599729 196599729 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196599729C>T ENST00000409086.3 + 10 2735 c.2460C>T c.(2458-2460)ctC>ctT p.L820L SLC39A10_ENST00000359634.5_Silent_p.L820L|SLC39A10_ENST00000541054.1_Silent_p.L370L NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 820 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGATTGCCCTCTATGAAGATA 0.403000 5 80 0 0 1 0 0 SP4 6671 broad.mit.edu 37 7 21469154 21469154 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21469154C>T ENST00000222584.3 + 3 589 c.371C>T c.(370-372)tCg>tTg p.S124L NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 124 Poly-Ser. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GCCTCTAGTTCGTCTAGTTCT 0.438000 11 66 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97956793 97956793 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:97956793G>A ENST00000224337.5 - 16 1263 c.1122C>T c.(1120-1122)agC>agT p.S374S BLNK_ENST00000427367.2_Intron|BLNK_ENST00000371176.2_Silent_p.S351S|BLNK_ENST00000413476.2_Intron NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 374 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CATGGCCAGAGCTTTTCCGAA 0.274000 6 47 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23716293 23716293 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:23716293G>A ENST00000256797.4 - 8 1077 c.909C>T c.(907-909)ttC>ttT p.F303F ERN2_ENST00000457008.2_Silent_p.F255F NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 255 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGAGGGCGAGGAAATGCAGAG 0.662000 13 86 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6589218 6589218 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:6589218G>A ENST00000321612.6 - 12 1707 c.1557C>T c.(1555-1557)ttC>ttT p.F519F NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 519 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GATGGGTGAGGAACGGGCTGG 0.498000 7 53 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163250930 163250930 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:163250930C>T ENST00000332142.5 - 12 2778 c.2679G>A c.(2677-2679)agG>agA p.R893R NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 893 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) ATGACAATTTCCTTCTTCTTA 0.333000 5 32 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675173 100675173 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100675173C>T ENST00000306151.4 + 3 540 c.476C>T c.(475-477)tCa>tTa p.S159L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 159 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCATTTCATCAACAATGGCT 0.453000 54 151 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125827 12125827 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:12125827C>T ENST00000379388.2 + 4 6131 c.5799C>T c.(5797-5799)ttC>ttT p.F1933F NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1933 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGCTGGCTTTCCCTAGCCTGA 0.423000 10 116 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058484 56058484 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56058484C>T ENST00000313022.2 - 1 82 c.55G>A c.(55-57)Gat>Aat p.D19N NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TCTTCAGAATCTGACAGTCCC 0.398000 13 80 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47451380 47451380 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:47451380G>A ENST00000398879.1 - 13 1034 c.668C>T c.(667-669)cCc>cTc p.P223L TNS3_ENST00000355730.3_Missense_Mutation_p.P223L|TNS3_ENST00000311160.9_Missense_Mutation_p.P223L|TNS3_ENST00000442536.2_Missense_Mutation_p.P223L|TNS3_ENST00000458317.2_Missense_Mutation_p.P223L Q68CZ2 TENS3_HUMAN tensin 3 223 C2 tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GATCCTGCTGGGGTTTTCTGG 0.517000 6 19 0 0 1 0 0 TRAV17 28666 broad.mit.edu 37 14 22465967 22465967 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22465967C>T ENST00000390445.2 + 0 190 TCTATGGCTTCAACTGGCTAG 0.443000 9 35 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234337 21234337 + Silent SNP C C T rs149787297 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21234337C>T ENST00000233242.1 - 26 5530 c.5403G>A c.(5401-5403)ctG>ctA p.L1801L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1801 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.L1801L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATTGTATTTCAGGTCACTGT 0.403000 8 110 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108902601 108902601 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:108902601G>A ENST00000340800.2 - 16 2464 c.1960C>T c.(1960-1962)Cga>Tga p.R654* ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R654*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R613* NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 654 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity p.R654*(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) GCAGCTTCTCGAATTTCTTTC 0.383000 11 64 0 0 1 0 0 PERP 64065 broad.mit.edu 37 6 138413251 138413251 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:138413251G>A ENST00000421351.3 - 3 680 c.510C>T c.(508-510)ttC>ttT p.F170F NM_022121.4 NP_071404.2 Q96FX8 PERP_HUMAN PERP, TP53 apoptosis effector 170 apoptosis|cell adhesion desmosome|Golgi apparatus|integral to membrane|nucleus breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1) 5 Breast(32;0.0799)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997) GGAGGCAGCAGAAGAAGAAGG 0.517000 4 34 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514947 99514947 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:99514947C>T ENST00000261037.3 + 5 2582 c.2202C>T c.(2200-2202)tcC>tcT p.S734S COL8A1_ENST00000273342.4_Silent_p.S734S NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 734 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ATGTCCACTCCTCCTTTTCAG 0.443000 3 37 0 0 1 0 0 C1orf64 149563 broad.mit.edu 37 1 16332613 16332613 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16332613G>A ENST00000329454.2 + 2 350 c.282G>A c.(280-282)cgG>cgA p.R94R NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 94 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGACTCGGGTGACCCCCA 0.637000 8 88 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20335417 20335417 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20335417C>T ENST00000302555.5 - 3 405 c.256G>A c.(256-258)Gat>Aat p.D86N GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.D86N|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 86 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATGTTTTTATCGCACCCCTGG 0.562000 15 75 0 0 1 0 0 SNX33 257364 broad.mit.edu 37 15 75941881 75941881 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:75941881C>T ENST00000308527.5 + 1 1635 c.438C>T c.(436-438)tcC>tcT p.S146S NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 146 cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 TCAACCTCTCCTACCCTGGTG 0.657000 14 60 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597484 136597484 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:136597484C>T ENST00000531224.1 - 5 1431 c.1179G>A c.(1177-1179)aaG>aaA p.K393K BCLAF1_ENST00000392348.2_Silent_p.K391K|BCLAF1_ENST00000527536.1_Silent_p.K393K|BCLAF1_ENST00000527759.1_Silent_p.K391K|BCLAF1_ENST00000353331.4_Silent_p.K391K|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 393 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATCATTAAACTTTTGTTTTC 0.428000 9 410 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2976766 2976766 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2976766C>T ENST00000396946.4 - 9 1649 c.1246G>A c.(1246-1248)Gag>Aag p.E416K NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 416 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ATCCTCATCTCGTCGTTCTTC 0.577000 Mis DLBCL 10 44 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105179309 105179309 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105179309C>T ENST00000428173.2 + 21 3953 c.3650C>T c.(3649-3651)tCt>tTt p.S1217F NRK_ENST00000243300.9_Missense_Mutation_p.S1216F Q7Z2Y5 NRK_HUMAN Nik related kinase 1216 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TGCTGTGGTTCTTTGTGGGGT 0.343000 HNSCC(51;0.14) 5 27 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16103737 16103737 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16103737C>T ENST00000375766.3 + 8 1603 c.963C>T c.(961-963)atC>atT p.I321I FBLIM1_ENST00000509138.1_3'UTR|FBLIM1_ENST00000375771.1_Silent_p.I321I|FBLIM1_ENST00000400773.1_Silent_p.I224I|FBLIM1_ENST00000332305.5_Silent_p.I224I NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 321 LIM zinc-binding 3.|PLEKHC1-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding p.I321I(1) large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCTTCAAAATCGAATGCATGG 0.488000 35 116 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340886 55340886 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55340886C>T ENST00000391728.4 + 7 1104 c.1071C>T c.(1069-1071)ttC>ttT p.F357F KIR3DL1_ENST00000358178.4_Silent_p.F262F|KIR3DL1_ENST00000541392.1_Silent_p.F340F|KIR3DL1_ENST00000538269.1_Silent_p.F357F|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.F340F NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) tcctcctcttctttctccttc 0.527000 16 72 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46312235 46312235 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:46312235C>T ENST00000510861.1 - 6 687 c.514G>A c.(514-516)Gat>Aat p.D172N GABRA2_ENST00000540012.1_Missense_Mutation_p.D117N|GABRA2_ENST00000514090.1_Missense_Mutation_p.D172N|GABRA2_ENST00000356504.1_Missense_Mutation_p.D172N|GABRA2_ENST00000381620.4_Missense_Mutation_p.D172N|GABRA2_ENST00000515082.1_Missense_Mutation_p.D172N|GABRA2_ENST00000507069.1_Missense_Mutation_p.D172N P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 172 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTGGGAAATCCTCCAAGTGC 0.378000 4 54 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805802 54805802 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:54805802G>A ENST00000306858.7 + 5 2149 c.2033G>A c.(2032-2034)gGa>gAa p.G678E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 678 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTAGATCCTGGAAATAGTAAG 0.358000 5 46 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147854 67147854 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:67147854C>T ENST00000371037.4 + 15 1194 c.1117C>T c.(1117-1119)Ccg>Tcg p.P373S SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P377S NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 373 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGTACTATCGCCGCTCAATTT 0.542000 16 240 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587467 36587467 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:36587467C>G ENST00000332987.1 - 7 1122 c.700G>C c.(700-702)Gaa>Caa p.E234Q APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.E237Q|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 238 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 TTTGTGGCTTCGTCAAAATCA 0.453000 7 39 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273956 10273956 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:10273956C>T ENST00000396573.2 - 3 622 c.313G>A c.(313-315)Gac>Aac p.D105N GRIN2A_ENST00000330684.3_Missense_Mutation_p.D105N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D105N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D105N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D105N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 105 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCTCCTGGTCCGTGTCGTCC 0.597000 16 101 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238050806 238050806 + Silent SNP C C T rs113242065 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:238050806C>T ENST00000366570.4 - 5 767 c.609G>A c.(607-609)gtG>gtA p.V203V RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 203 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTGGCGAGGTCACGTTCCGAG 0.522000 9 58 0 0 1 0 0 QTRTD1 79691 broad.mit.edu 37 3 113784098 113784098 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:113784098C>T ENST00000485050.1 + 2 145 c.30C>T c.(28-30)tcC>tcT p.S10S QTRTD1_ENST00000493014.1_Intron|QTRTD1_ENST00000479882.1_5'UTR|QTRTD1_ENST00000281273.4_5'UTR|QTRTD1_ENST00000466050.1_3'UTR NM_001256835.1 NP_001243764.1 Q9H974 QTRD1_HUMAN queuine tRNA-ribosyltransferase domain containing 1 0 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 TAGAAGAATCCCTTAGGATGA 0.413000 17 67 0 0 1 0 0 PNPLA2 57104 broad.mit.edu 37 11 821704 821704 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:821704C>T ENST00000336615.4 + 3 466 c.264C>T c.(262-264)ttC>ttT p.F88F NM_020376.3 NP_065109.1 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 88 Patatin. negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1) 9 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCCCTCCTTCAACCTGGTAA 0.607000 12 25 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134023092 134023092 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:134023092T>C ENST00000534548.2 - 34 4395 c.4331A>G c.(4330-4332)aAa>aGa p.K1444R NCAPD3_ENST00000526787.2_Intron NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1444 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) GCCTTCAATTTTCTCTAAAAG 0.438000 26 126 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244683 56244683 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56244683C>T ENST00000332836.2 - 2 541 c.514G>A c.(514-516)Gga>Aga p.G172R NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 172 NACHT. cytoplasm ATP binding p.G172R(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CATAAGTTTCCCTCTGCCCAG 0.463000 7 53 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167595347 167595347 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:167595347G>A ENST00000366832.2 + 8 1136 c.1005G>A c.(1003-1005)ccG>ccA p.P335P NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 335 endometrium(1)|kidney(2)|lung(3) 6 CCGGTTTCCCGAGTGAATTTC 0.537000 8 37 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579026 55579026 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55579026C>T ENST00000333973.2 + 1 173 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F28F(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCTGCCTCTTCCTGCTGTTCC 0.488000 12 168 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110467064 110467064 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110467064G>A ENST00000378402.5 + 45 6961 c.6857G>A c.(6856-6858)gGa>gAa p.G2286E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2286 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTGCGGGAGGGAATCCTGGAT 0.507000 HNSCC(38;0.096) 4 20 0 0 1 0 0 NAGPA 51172 broad.mit.edu 37 16 5075526 5075526 + Missense_Mutation SNP C C T rs141568446 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:5075526C>T ENST00000312251.3 - 10 1520 c.1501G>A c.(1501-1503)Gca>Aca p.A501T RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.A467T NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 501 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity p.A501T(1) endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) TCCTTCTCTGCGGCCAGAGGC 0.632000 12 180 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42043012 42043012 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:42043012G>A ENST00000359308.4 + 6 1541 c.886G>A c.(886-888)Gtg>Atg p.V296M XRCC6_ENST00000360079.3_Missense_Mutation_p.V296M|XRCC6_ENST00000402580.3_Missense_Mutation_p.V255M|XRCC6_ENST00000405878.1_Missense_Mutation_p.V296M|XRCC6_ENST00000405506.1_Missense_Mutation_p.V246M|XRCC6_ENST00000428575.2_Missense_Mutation_p.V163M P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 296 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 AAATGAACCAGTGAAAACCAA 0.453000 Non-homologous end-joining 15 179 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804643 27804643 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:27804643A>G ENST00000408964.2 + 1 5255 c.5204A>G c.(5203-5205)cAc>cGc p.H1735R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1735 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. 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) AGAAGCCATCACAGTCCCTCT 0.552000 6 260 0 0 1 0 0 OR51B2 79345 broad.mit.edu 37 11 5345040 5345040 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5345040G>A ENST00000328813.2 - 1 542 c.488C>T c.(487-489)tCa>tTa p.S163L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATATGAAAATGAAAAAAGACG 0.398000 17 64 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104149475 104149475 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:104149475C>T ENST00000388887.2 + 63 7170 c.6966C>T c.(6964-6966)ccC>ccT p.P2322P RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2322 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTCCTTCCCCTCACTCACAA 0.557000 5 93 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93088615 93088615 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:93088615G>A ENST00000298050.3 + 3 208 c.108G>A c.(106-108)tgG>tgA p.W36* CCDC67_ENST00000527307.1_Nonsense_Mutation_p.W36*|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 36 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AAATGGATTGGGAAAGAAAGA 0.408000 7 43 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213507 21213507 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21213507G>A ENST00000574002.1 - 12 1687 c.1205C>T c.(1204-1206)tCc>tTc p.S402F ZP2_ENST00000219593.4_Missense_Mutation_p.S402F|ZP2_ENST00000574091.1_Missense_Mutation_p.S402F|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 402 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AGGCTGGCAGGATGAGTTTCC 0.542000 5 25 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183162 60183162 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:60183162C>T ENST00000300187.6 + 5 998 c.721C>T c.(721-723)Ccc>Tcc p.P241S MS4A14_ENST00000531787.1_Missense_Mutation_p.P129S|MS4A14_ENST00000395005.2_Missense_Mutation_p.P224S|MS4A14_ENST00000531783.1_Missense_Mutation_p.P274S|MS4A14_ENST00000395001.1_3'UTR NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 241 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CCTTCCATCTCCCAAATTTTC 0.388000 16 78 0 0 1 0 0 SV2A 9900 broad.mit.edu 37 1 149885088 149885088 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:149885088G>A ENST00000369146.3 - 2 795 c.305C>T c.(304-306)cCc>cTc p.P102L SV2A_ENST00000369145.1_Missense_Mutation_p.P102L NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 102 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CTCTGCCCGGGGAATGCCCTG 0.627000 29 149 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032466 21032466 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:21032466C>T ENST00000381545.3 + 11 1451 c.1232C>T c.(1231-1233)tCa>tTa p.S411L LST3_ENST00000540229.1_Missense_Mutation_p.S411L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S411L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S411L NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 411 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GCCAAATTTTCATTTCTTACT 0.358000 5 25 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30926546 30926546 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:30926546G>A ENST00000597505.1 - 29 4269 c.4270C>T c.(4270-4272)Cgt>Tgt p.R1424C DCDC1_ENST00000406071.2_Missense_Mutation_p.R159C|DCDC1_ENST00000339794.5_Missense_Mutation_p.R503C P59894 DCDC1_HUMAN doublecortin domain containing 1 186 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) TTCCCATTACGATACCCATCC 0.458000 5 66 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110921 81110921 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81110921G>A ENST00000228644.3 + 1 231 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 27 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCCCGAGGGTGAATTTGGGGA 0.622000 5 39 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71300833 71300833 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:71300833C>T ENST00000260382.5 + 12 1545 c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L LRRC49_ENST00000560158.2_Silent_p.L117L|LRRC49_ENST00000560691.1_Silent_p.L135L|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Silent_p.L419L|LRRC49_ENST00000560369.1_Silent_p.L434L|LRRC49_ENST00000443425.2_Silent_p.L385L NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 429 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 ACTGGAATCTCTGGATAGGAA 0.413000 4 27 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166324 140166324 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140166324C>T ENST00000504120.2 + 1 449 c.449C>T c.(448-450)tCg>tTg p.S150L PCDHA1_ENST00000394633.3_Missense_Mutation_p.S150L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S150L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGAATTCGCGTTTTCCG 0.443000 11 81 0 0 1 0 0 OR8A1 390275 broad.mit.edu 37 11 124440855 124440855 + Silent SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124440855A>T ENST00000284287.3 + 1 963 c.891A>T c.(889-891)gtA>gtT p.V297V NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) ACACCACGGTAATCCCCATGT 0.458000 6 37 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421922 153421922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:153421922C>T ENST00000369951.4 + 5 958 c.898C>T c.(898-900)Cac>Tac p.H300Y NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 300 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 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) TTACGCCTTCCACCCTTTGAT 0.542000 47 182 0 0 1 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010631 173010631 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173010631C>T ENST00000404377.3 - 3 476 c.476G>A c.(475-477)gGa>gAa p.G159E RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.G137E NM_005092.3 NP_005083.2 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, member 18 159 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 ATAAGTCCCTCCTACATTTTG 0.348000 15 47 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616313 92616313 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:92616313C>T ENST00000298047.6 + 23 12708 c.12691C>T c.(12691-12693)Ccc>Tcc p.P4231S FAT3_ENST00000533797.1_Missense_Mutation_p.P566S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4081S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4231S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4231 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) CCCGCAGGTCCCCGTGCGCCC 0.657000 TCGA Ovarian(4;0.039) 25 125 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67857917 67857917 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:67857917G>A ENST00000255674.6 - 9 1332 c.1046C>T c.(1045-1047)tCc>tTc p.S349F RTTN_ENST00000437017.1_Missense_Mutation_p.S349F|RTTN_ENST00000454359.1_Missense_Mutation_p.S349F NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 349 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TGAATGAACGGATATCCTGGA 0.418000 10 58 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128359391 128359391 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:128359391C>T ENST00000262462.4 + 6 2253 c.1243C>T c.(1243-1245)Cat>Tat p.H415Y SLC27A6_ENST00000395266.1_Missense_Mutation_p.H415Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H415Y Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 415 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TTGGTGTATTCATGTGAAAAA 0.368000 5 40 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 556008 556008 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:556008G>A ENST00000230449.4 - 19 2073 c.1938C>T c.(1936-1938)ttC>ttT p.F646F EXOC2_ENST00000448181.3_Silent_p.F241F NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 646 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TAGGTTGTTGGAAGACCTGTA 0.343000 8 64 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140189010 140189010 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140189010G>A ENST00000530339.1 + 1 2238 c.2238G>A c.(2236-2238)ggG>ggA p.G746G PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.G746G|PCDHA4_ENST00000512229.2_Silent_p.G746G NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCGGTGGGGAGCTGGTCAT 0.672000 6 62 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115413821 115413821 + Missense_Mutation SNP C C T rs141144397 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:115413821C>T ENST00000369358.4 - 5 668 c.424G>A c.(424-426)Gaa>Aaa p.E142K NRAP_ENST00000360478.3_Missense_Mutation_p.E142K|NRAP_ENST00000359988.3_Missense_Mutation_p.E142K|NRAP_ENST00000369360.3_Missense_Mutation_p.E142K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 142 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTACAATTTCGGGGTCTGGC 0.458000 19 193 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55039470 55039470 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55039470T>A ENST00000370862.3 + 1 421 c.85T>A c.(85-87)Tta>Ata p.L29I NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 29 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGAGCCCTTTTTAAACCCCAC 0.547000 19 157 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694312 153694312 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:153694312C>T ENST00000369682.3 + 14 2742 c.2567C>T c.(2566-2568)aCc>aTc p.T856I NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 856 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAAGGAGGCACCCGGGTCACC 0.652000 8 33 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114082 168114082 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:168114082C>T ENST00000519560.1 - 30 3635 c.3216G>A c.(3214-3216)gaG>gaA p.E1072E SLIT3_ENST00000404867.3_Silent_p.E1072E|SLIT3_ENST00000332966.8_Silent_p.E1079E NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1072 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATTGTCTGTCTCACAGAGCT 0.597000 4 43 0 0 1 0 0 E2F4 1874 broad.mit.edu 37 16 67227419 67227419 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:67227419G>A ENST00000379378.3 + 4 510 c.e4+1 E2F4_ENST00000564718.1_Splice_Site NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) TGCTTTGCTGGTGAGCAGAGC 0.547000 8 64 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752598 247752598 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247752598G>A ENST00000320065.1 + 1 937 c.937G>A c.(937-939)Gga>Aga 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 11 59 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881963 228881963 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228881963C>T ENST00000392056.3 - 7 3653 c.3607G>A c.(3607-3609)Gaa>Aaa p.E1203K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1203K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1203 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) CTGTCTCTTTCGATGTCCCTC 0.562000 8 77 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83674049 83674049 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:83674049C>T ENST00000398309.2 - 9 1374 c.904G>A c.(904-906)Gaa>Aaa p.E302K DLG2_ENST00000330014.6_Missense_Mutation_p.E241K|DLG2_ENST00000543673.1_Missense_Mutation_p.E407K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.E56K|DLG2_ENST00000376104.2_Missense_Mutation_p.E407K|DLG2_ENST00000532653.1_Missense_Mutation_p.E302K|DLG2_ENST00000524982.1_Missense_Mutation_p.E302K|DLG2_ENST00000280241.8_Missense_Mutation_p.E341K|DLG2_ENST00000531015.1_Missense_Mutation_p.E269K|DLG2_ENST00000418306.2_Missense_Mutation_p.E251K|DLG2_ENST00000398301.2_Missense_Mutation_p.E341K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 302 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGATGGTTTTCCATTGGTGGA 0.413000 17 89 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813361 106813361 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:106813361C>T ENST00000407775.2 + 8 1301 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H219Y|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H219Y|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H82Y NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 351 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATCAACTTTCACCAACACCT 0.493000 16 152 0 0 1 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031896 132031896 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:132031896C>T ENST00000314099.8 - 1 310 c.262G>A c.(262-264)Gaa>Aaa p.E88K ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 88 integral to membrane p.E88Q(2) endometrium(1)|lung(1) 2 TTACATTTTTCTTCAATTAGT 0.393000 11 57 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102604102 102604102 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:102604102G>A ENST00000393772.2 - 8 1028 c.602C>T c.(601-603)tCc>tTc p.S201F FBXL13_ENST00000379306.3_Missense_Mutation_p.S201F|FBXL13_ENST00000455112.2_Missense_Mutation_p.S201F|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379305.3_Missense_Mutation_p.S201F|FBXL13_ENST00000456695.1_Missense_Mutation_p.S201F|FBXL13_ENST00000379308.3_Missense_Mutation_p.S201F|FBXL13_ENST00000313221.4_Missense_Mutation_p.S201F|FBXL13_ENST00000436908.1_Missense_Mutation_p.S201F Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 201 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TTTCACTGAGGAAAAATCAAT 0.318000 4 49 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18439861 18439861 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:18439861G>A ENST00000282343.8 + 2 308 c.86G>A c.(85-87)gGa>gAa p.G29E CACNB2_ENST00000324631.7_Missense_Mutation_p.G57E|CACNB2_ENST00000352115.6_Missense_Mutation_p.G57E|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377328.1_Missense_Mutation_p.G57E|CACNB2_ENST00000377331.2_Missense_Mutation_p.G29E NM_001167945.1|NM_201571.3 NP_001161417.1|NP_963865.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 57 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGATCTGATGGAAGCACGTCA 0.294000 7 97 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142640664 142640664 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142640664C>T ENST00000355265.2 - 15 2086 c.1612G>A c.(1612-1614)Gac>Aac p.D538N NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 538 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCATTGACGTCCCAAGGGGAC 0.562000 4 47 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74279226 74279226 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:74279226C>T ENST00000295897.4 + 8 1022 c.933C>T c.(931-933)tcC>tcT p.S311S ALB_ENST00000401494.3_Silent_p.S196S|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.S311S|ALB_ENST00000503124.1_Silent_p.S161S|ALB_ENST00000415165.2_Silent_p.S119S NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 311 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGGAAAAATCCCACTGCATTG 0.408000 15 71 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303337 151303337 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151303337C>T ENST00000370323.4 - 4 1072 c.756G>A c.(754-756)atG>atA p.M252I MAGEA10_ENST00000244096.3_Missense_Mutation_p.M252I|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 252 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCCCCATCATATTCAGTG 0.522000 20 60 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263529 1263529 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:1263529G>A ENST00000447027.1 + 31 5486 c.5428G>A c.(5428-5430)Gac>Aac p.D1810N RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.D1807N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1807 7 X Cys-rich subdomain repeats.|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) TGCAGGCGGGGACATGGAAAC 0.577000 5 75 0 0 1 0 0 TRAV8-3 28683 broad.mit.edu 37 14 22321018 22321018 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22321018C>T ENST00000390435.1 + 0 176 GTCCAGTCCCCCGGCCAAGGC 0.493000 3 18 0 0 1 0 0 CDK5 1020 broad.mit.edu 37 7 150754173 150754173 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150754173C>T ENST00000485972.1 - 2 793 c.112G>A c.(112-114)Gat>Aat p.D38N CDK5_ENST00000297518.4_Missense_Mutation_p.D38N NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 38 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) TCATCGTCATCCAGCCTCACC 0.622000 10 228 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19548854 19548854 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19548854C>T ENST00000396212.2 + 5 2299 c.1863C>T c.(1861-1863)taC>taT p.Y621Y CCP110_ENST00000381396.5_Silent_p.Y621Y|CCP110_ENST00000396208.2_Silent_p.Y621Y NM_014711.4 NP_055526.3 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 621 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 AAAAAAGATACCCTAAGGGAT 0.353000 4 67 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34087804 34087804 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34087804G>A ENST00000373381.4 - 37 5966 c.5790C>T c.(5788-5790)atC>atT p.I1930I CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373388.2_Silent_p.I29I|CSMD2_ENST00000373377.1_Silent_p.I29I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1890 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGATACGCTGATATCTGAGT 0.517000 34 173 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:71275418C>T ENST00000399575.2 + 3 547 c.373C>T c.(373-375)Cct>Tct p.P125S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 14 70 0 0 1 0 0 GPR171 29909 broad.mit.edu 37 3 150916712 150916712 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:150916712G>A ENST00000309180.5 - 3 692 c.462C>T c.(460-462)atC>atT p.I154I MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 154 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGATGTCTTTGATGGGAATCA 0.363000 13 50 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117237424 117237424 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117237424G>A ENST00000332958.2 + 9 935 c.919G>A c.(919-921)Gaa>Aaa p.E307K RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 307 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TCCCCTGCTCGAAAATCCTGT 0.343000 6 101 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686833 54686833 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54686833G>A ENST00000540264.2 - 2 956 c.447C>T c.(445-447)tcC>tcT p.S149S NFE2_ENST00000435572.2_Silent_p.S149S|NFE2_ENST00000312156.4_Silent_p.S149S|NFE2_ENST00000553070.1_Silent_p.S149S|RP11-968A15.8_ENST00000553061.1_RNA Q16621 NFE2_HUMAN nuclear factor, erythroid 2 149 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TATAGTTGAGGGATAATCCTG 0.572000 19 118 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040766 88040766 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:88040766G>A ENST00000319595.4 + 1 921 c.867G>A c.(865-867)cgG>cgA p.R289R NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 289 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CAAGAGAACGGAAAGCAGCCA 0.378000 3 28 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 19735412 19735412 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:19735412C>T ENST00000396085.1 + 1 532 c.171C>T c.(169-171)ccC>ccT p.P57P NAV2_ENST00000349880.4_Silent_p.P57P|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Silent_p.P57P NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 57 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 GCCAGATCCCCCTGAAATCGC 0.672000 6 35 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702603 27702603 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:27702603C>T ENST00000438700.3 - 1 694 c.577G>A c.(577-579)Gac>Aac p.D193N NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 193 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CGGTAGGAGTCGTTGGTGGTG 0.612000 9 165 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123101468 123101468 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123101468C>T ENST00000466202.1 - 11 2526 c.1950G>A c.(1948-1950)caG>caA p.Q650Q IQUB_ENST00000324698.6_Silent_p.Q650Q Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 650 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATAGTAGAGCTGTTGAAGTA 0.393000 7 69 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134660750 134660750 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:134660750C>T ENST00000368586.5 - 42 6128 c.6028G>A c.(6028-6030)Gac>Aac p.D2010N TTC40_ENST00000263170.5_Missense_Mutation_p.D171N NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 171 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCCGGCGGGTCCCTGCTGGAC 0.677000 17 86 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153418575 153418575 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:153418575G>A ENST00000369951.4 + 3 632 c.572G>A c.(571-573)tGg>tAg p.W191* OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 191 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 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) ATCTTTGGTTGGAGCAGGTAA 0.572000 15 99 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82430892 82430892 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82430892C>T ENST00000333891.8 - 22 15286 c.14949G>A c.(14947-14949)caG>caA p.Q4983Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4906 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.Q4983Q(2) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTGTCCATTCTGTCCCATCT 0.348000 9 43 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33133518 33133518 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33133518G>A ENST00000341947.2 - 63 4785 c.4558C>T c.(4558-4560)Cgt>Tgt p.R1520C COL11A2_ENST00000395197.1_Missense_Mutation_p.R1460C|COL11A2_ENST00000361917.1_Missense_Mutation_p.R1413C|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374712.1_Missense_Mutation_p.R1439C|COL11A2_ENST00000374708.4_Missense_Mutation_p.R1434C|COL11A2_ENST00000374714.1_Missense_Mutation_p.R1494C|COL11A2_ENST00000357486.1_Missense_Mutation_p.R1499C|COL11A2_ENST00000374713.1_Missense_Mutation_p.R1473C NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1520 cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.R1520C(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGCATCAGACGGCTTCCATCC 0.652000 22 101 0 0 1 0 0 OR2AE1 81392 broad.mit.edu 37 7 99474602 99474602 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99474602C>T ENST00000316368.2 - 1 78 c.55G>A c.(55-57)Gat>Aat p.D19N NM_001005276.1 NP_001005276.1 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2) 11 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AGGGAGTCATCGAAGAGCCCC 0.493000 12 61 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105421053 105421053 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:105421053G>A ENST00000264122.4 - 12 2165 c.1844C>T c.(1843-1845)cCa>cTa p.P615L CBLB_ENST00000405772.1_Missense_Mutation_p.P615L|CBLB_ENST00000394027.3_Missense_Mutation_p.P637L|CBLB_ENST00000403724.1_Missense_Mutation_p.P615L NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 615 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 TCCAGGTTTTGGAGAGCCCTC 0.537000 Mis S AML 8 116 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43689046 43689046 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43689046G>A ENST00000404580.1 - 2 406 c.318C>T c.(316-318)tcC>tcT p.S106S PSG5_ENST00000342951.6_Silent_p.S106S|PSG5_ENST00000407356.1_Silent_p.S106S|PSG5_ENST00000407568.1_Silent_p.S106S|PSG5_ENST00000599812.1_Silent_p.S106S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Silent_p.S106S Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 106 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGATCAGCAGGGATGCATTGG 0.433000 44 320 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668534 176668534 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176668534G>A ENST00000367662.3 + 8 4209 c.3045G>A c.(3043-3045)ggG>ggA p.G1015G NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1015 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 ACGTGGATGGGAAGGTGTCGG 0.522000 26 114 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9265989 9265989 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:9265989C>T ENST00000318602.7 - 2 544 c.237G>A c.(235-237)gcG>gcA p.A79A NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 79 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) CGTCATTCTCCGCCTCCAGGT 0.493000 9 67 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141765192 141765192 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141765192C>T ENST00000475668.2 + 38 4596 c.4542C>T c.(4540-4542)ccC>ccT p.P1514P MGAM_ENST00000549489.2_Silent_p.P1514P O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1514 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCACATTTCCCTCTTCTGGCC 0.617000 3 26 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81647405 81647405 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81647405C>T ENST00000548058.1 + 15 2861 c.1951C>T c.(1951-1953)Ccc>Tcc p.P651S ACSS3_ENST00000548324.1_Missense_Mutation_p.P333S|ACSS3_ENST00000261206.3_Missense_Mutation_p.P650S Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 651 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGGCAAGATCCCCCGATCAGC 0.393000 4 72 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10470004 10470004 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:10470004G>A ENST00000382483.3 - 4 1827 c.1604C>T c.(1603-1605)tCg>tTg p.S535L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 535 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCTGGCTGACGAGTCCGAAGA 0.697000 6 94 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56345060 56345060 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56345060G>A ENST00000526812.2 - 1 203 c.138C>T c.(136-138)atC>atT p.I46I NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TGATCAGCAGGATCATGCACA 0.473000 6 79 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499585 75499585 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:75499585C>T ENST00000360639.2 + 2 1516 c.1196C>T c.(1195-1197)cCt>cTt p.P399L C15orf39_ENST00000567617.1_Missense_Mutation_p.P399L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P399L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 399 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GGGACACCACCTTCCCAGAAC 0.617000 12 123 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39178269 39178269 + Silent SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:39178269A>T ENST00000297668.6 - 5 700 c.627T>A c.(625-627)tcT>tcA p.S209S CNTNAP3_ENST00000377659.1_Silent_p.S209S|CNTNAP3_ENST00000323947.7_Silent_p.S209S|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Silent_p.S209S|CNTNAP3_ENST00000358144.2_Silent_p.S121S NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 209 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAAATTTCAAAGAAATAACGT 0.343000 17 68 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39623270 39623270 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39623270A>G ENST00000225899.3 - 1 411 c.308T>C c.(307-309)cTt>cCt p.L103P NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 103 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GCGGTCGTTAAGGAACTGCAT 0.627000 13 121 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56345044 56345044 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56345044T>C ENST00000526812.2 - 1 219 c.154A>G c.(154-156)Aat>Gat p.N52D NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 AGTTGGGAATTGGTCCTGATC 0.463000 18 69 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119285936 119285936 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:119285936C>T ENST00000338891.7 - 16 3477 c.3033_splice c.e16-1 p.E1012_splice FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Splice_Site_p.E843_splice|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 1012 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TTATTATCCTCCTATGCAAAA 0.264000 3 22 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754868 94754868 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94754868G>A ENST00000554723.1 - 3 1285 c.867C>T c.(865-867)gtC>gtT p.V289V SERPINA10_ENST00000554173.1_Silent_p.V249V|SERPINA10_ENST00000261994.4_Silent_p.V249V|SERPINA10_ENST00000393096.1_Silent_p.V249V Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 249 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CTTCGGTGAAGACAGGGTCAA 0.438000 8 61 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166895950 166895950 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:166895950G>A ENST00000423058.2 - 14 2589 c.2572C>T c.(2572-2574)Ctc>Ttc p.L858F SCN1A_ENST00000375405.3_Missense_Mutation_p.L847F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L858F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L830F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 858 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATGAACGGAGAACAGATAAT 0.353000 3 17 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18692085 18692085 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:18692085C>T ENST00000251296.1 + 6 1292 c.909C>T c.(907-909)gcC>gcT p.A303A NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 303 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) AAGTACGTGCCCTGCTCACCT 0.642000 23 92 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205497216 205497216 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:205497216C>T ENST00000360066.2 + 10 1195 c.894C>T c.(892-894)tcC>tcT p.S298S CDK18_ENST00000429964.2_Silent_p.S298S|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.S328S NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 296 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 AGACTTACTCCAATGAGGTGG 0.587000 8 44 0 0 1 0 0 PTRH2 51651 broad.mit.edu 37 17 57775088 57775088 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:57775088G>A ENST00000470557.2 - 1 3698 c.252C>T c.(250-252)gcC>gcT p.A84A PTRH2_ENST00000537860.1_Silent_p.A84A|PTRH2_ENST00000409433.2_Silent_p.A85A|PTRH2_ENST00000393038.2_Silent_p.A84A Q9Y3E5 PTH2_HUMAN peptidyl-tRNA hydrolase 2 84 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GAGAGCACTGGGCAGCCACTT 0.468000 6 123 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75704243 75704243 + Missense_Mutation SNP C C T rs149353208 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75704243C>T ENST00000370855.5 - 10 724 c.611G>A c.(610-612)gGa>gAa p.G204E SLC44A5_ENST00000535611.1_Missense_Mutation_p.G74E|SLC44A5_ENST00000370859.3_Missense_Mutation_p.G204E NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 204 integral to membrane|plasma membrane choline transmembrane transporter activity p.G204E(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCCTCCATTTCCATCTTGAAA 0.343000 6 71 0 0 1 0 0 ALG8 79053 broad.mit.edu 37 11 77812121 77812121 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:77812121G>A ENST00000299626.5 - 13 1541 c.1470C>T c.(1468-1470)atC>atT p.I490I ALG8_ENST00000376156.3_3'UTR NM_024079.4 NP_076984.2 Q9BVK2 ALG8_HUMAN ALG8, alpha-1,3-glucosyltransferase 490 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 30 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) GTAACAAAGGGATGAAGGGGT 0.443000 13 85 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81902885 81902885 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:81902885C>T ENST00000359376.3 + 6 760 c.546C>T c.(544-546)ttC>ttT p.F182F NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 182 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 GTGCCAAGTTCCTTAAAGATA 0.473000 7 154 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048115 180048115 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:180048115C>T ENST00000261937.6 - 14 2236 c.2158G>A c.(2158-2160)Gaa>Aaa p.E720K FLT4_ENST00000502649.1_Missense_Mutation_p.E720K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E720K NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 720 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGACTTTTCCTCCAGCAGC 0.672000 5 39 0 0 1 0 0 EYA4 2070 broad.mit.edu 37 6 133844294 133844294 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:133844294A>T ENST00000367895.5 + 18 2181 c.1717A>T c.(1717-1719)Att>Ttt p.I573F RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.I573F|EYA4_ENST00000430974.2_Missense_Mutation_p.I525F|EYA4_ENST00000531901.1_Missense_Mutation_p.I579F|EYA4_ENST00000525849.1_Missense_Mutation_p.I550F|EYA4_ENST00000355167.3_Missense_Mutation_p.I573F|EYA4_ENST00000355286.6_Missense_Mutation_p.I550F|EYA4_ENST00000452339.2_Missense_Mutation_p.I519F NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 573 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CATTGAGAATATTTACAGTGC 0.388000 13 70 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103290777 103290777 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:103290777C>T ENST00000424685.2 - 16 2105 c.1946G>A c.(1945-1947)aGg>aAg p.R649K RELN_ENST00000428762.1_Missense_Mutation_p.R649K|RELN_ENST00000343529.5_Missense_Mutation_p.R649K P78509 RELN_HUMAN reelin 649 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAGCGAATCCTGGTGTTCCG 0.428000 22 61 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30976205 30976205 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:30976205C>T ENST00000262519.8 + 7 1828 c.1142C>T c.(1141-1143)tCc>tTc p.S381F NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CGCCATACTTCCTACCCACCA 0.557000 46 251 0 0 1 0 0 SDR16C5 195814 broad.mit.edu 37 8 57228861 57228861 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:57228861C>T ENST00000396721.2 - 2 176 c.46G>A c.(46-48)Gga>Aga p.G16R SDR16C5_ENST00000522671.1_Missense_Mutation_p.G16R|SDR16C5_ENST00000303749.3_Missense_Mutation_p.G16R Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 16 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 AGTGATTTTCCTAAGAAAATG 0.418000 6 56 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28720117 28720117 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:28720117C>T ENST00000257197.3 - 10 1669 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E470K NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 470 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GGGTGGCATTCAGGGCCCTCA 0.473000 9 84 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548734 158548734 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158548734C>T ENST00000368150.1 - 1 955 c.956G>A c.(955-957)gGa>gAa p.G319E NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AACTGTGTTTCCCATCATTCT 0.428000 13 129 0 0 1 0 0 KIAA1549 57670 broad.mit.edu 37 7 138529097 138529097 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138529097G>A ENST00000440172.1 - 18 5465 c.5417C>T c.(5416-5418)tCg>tTg p.S1806L KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1756L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1806L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1806 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCGGGCCACCGACGGCATCTC 0.572000 O BRAF pilocytic astrocytoma 8 37 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587644 42587644 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:42587644C>T ENST00000289957.2 + 5 1322 c.1194C>T c.(1192-1194)tcC>tcT p.S398S NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 398 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGCTGATTCCATTAGATACA 0.383000 6 26 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228487623 228487623 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228487623G>A ENST00000570156.2 + 51 13589 c.13515G>A c.(13513-13515)aaG>aaA p.K4505K OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Silent_p.K1195K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3548 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAAACCAGAAGGCCACAGAAG 0.522000 7 70 0 0 1 0 0 ALS2 57679 broad.mit.edu 37 2 202588148 202588148 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:202588148C>T ENST00000264276.6 - 22 3901 c.3529G>A c.(3529-3531)Gga>Aga p.G1177R ALS2_ENST00000457679.2_Missense_Mutation_p.G489R NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1177 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TGCCACATTCCCATATACTTT 0.403000 8 130 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344279 118344279 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:118344279C>T ENST00000534358.1 + 3 2428 c.2405C>T c.(2404-2406)tCc>tTc p.S802F KMT2A_ENST00000389506.5_Missense_Mutation_p.S802F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S802F NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CCTTCTCATTCCCTGACTCAG 0.483000 20 79 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30974051 30974051 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:30974051G>A ENST00000597505.1 - 19 2655 c.2656C>T c.(2656-2658)Cct>Tct p.P886S DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000339794.5_5'UTR 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) TTCCATAGAGGATTTTCAACT 0.403000 4 20 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119321 38119321 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:38119321G>A ENST00000406386.3 + 7 1013 c.758G>A c.(757-759)cGa>cAa p.R253Q RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 253 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGTGGACCTCGAAGCACCACG 0.612000 8 36 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232178 21232178 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21232178T>C ENST00000233242.1 - 26 7689 c.7562A>G c.(7561-7563)gAc>gGc p.D2521G NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2521 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATACATTCGGTCTCGTGTATC 0.428000 14 45 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5662697 5662697 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:5662697G>A ENST00000425013.2 - 17 2619 c.2395C>T c.(2395-2397)Ccc>Tcc p.P799S RNF216_ENST00000389902.3_Missense_Mutation_p.P856S|RNF216_ENST00000469375.1_5'UTR NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 799 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AAGGCATAGGGTGGCATCTGT 0.657000 11 97 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96768431 96768431 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:96768431G>A ENST00000359933.4 - 34 5945 c.5052C>T c.(5050-5052)gcC>gcT p.A1684A ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1684 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACACGTGTAAGGCTTTCACTG 0.413000 12 44 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152719765 152719765 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152719765G>A ENST00000367255.5 - 49 7940 c.7339C>T c.(7339-7341)Cat>Tat p.H2447Y SYNE1_ENST00000265368.4_Missense_Mutation_p.H2447Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2454Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H2454Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2485Y NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2447 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) TGAAGATCATGGAGCTTTGCT 0.443000 HNSCC(10;0.0054) 10 45 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 488599 488599 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:488599C>T ENST00000308020.5 + 8 982 c.806C>T c.(805-807)tCc>tTc p.S269F NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 269 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GAGTGGCTGTCCCTGAAGACG 0.632000 14 51 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2024076 2024076 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:2024076C>T ENST00000382722.5 - 2 615 c.253G>A c.(253-255)Ggc>Agc p.G85S CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G85S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G21S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G85S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G21S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G85S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 85 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGGTCCCCGCCGAAGGTGTCA 0.542000 9 48 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576692 90576692 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:90576692C>T ENST00000551025.1 + 0 5120 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AGTATTAACACTGTAAAGCAT 0.328000 4 15 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65123660 65123660 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:65123660G>A ENST00000309880.5 + 2 588 c.381G>A c.(379-381)tgG>tgA p.W127* NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 127 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TGGTCCGCTGGAAACGCCGAA 0.657000 5 63 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079577 31079577 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31079577C>T ENST00000259870.3 - 2 562 c.559G>A c.(559-561)Ggg>Agg p.G187R NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 187 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATTTTTCCCCCGGCTCCCAGT 0.607000 9 54 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848461 92848461 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:92848461C>T ENST00000394468.2 - 2 460 c.383G>A c.(382-384)gGa>gAa p.G128E HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G116E|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G116E|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G151E NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 128 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 AGTTCCATTTCCCTGAATGTT 0.478000 6 56 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259249 43259249 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43259249C>T ENST00000404209.4 - 4 975 c.879G>A c.(877-879)agG>agA p.R293R PSG8_ENST00000401467.2_Silent_p.R200R|PSG8_ENST00000306511.4_Silent_p.R293R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.R171R NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 293 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GAATGAGGATCCTGTTTTCAA 0.488000 23 163 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147131119 147131119 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:147131119G>A ENST00000369238.5 - 4 962 c.515C>T c.(514-516)tCc>tTc p.S172F ACP6_ENST00000392988.2_Missense_Mutation_p.S172F NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic 172 lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) ACAACGGGTGGACTCCAGATT 0.408000 14 113 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910702 108910702 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:108910702G>A ENST00000326853.5 + 3 622 c.169G>A c.(169-171)Gaa>Aaa p.E57K SULT1C2_ENST00000437390.2_Missense_Mutation_p.E57K|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000409880.1_Missense_Mutation_p.E57K|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E57K NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 57 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GTGGATTCAGGAAATTGTGGA 0.502000 30 132 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057015 180057015 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:180057015G>A ENST00000261937.6 - 5 682 c.604C>T c.(604-606)Ctg>Ttg p.L202L FLT4_ENST00000502649.1_Silent_p.L202L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.L202L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 202 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGCAGGTACAGGGCATCGTGC 0.637000 16 48 0 0 1 0 0 ZNF730 100129543 broad.mit.edu 37 19 23318800 23318800 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:23318800G>A ENST00000597761.2 + 3 380 c.181G>A c.(181-183)Gag>Aag p.E61K ZNF730_ENST00000593635.1_Missense_Mutation_p.E29K NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 GCAAGAAAAAGAGCCTTGGAA 0.368000 8 82 0 0 1 0 0 HOOK1 51361 broad.mit.edu 37 1 60325955 60325955 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:60325955T>A ENST00000371208.3 + 15 1744 c.1487T>A c.(1486-1488)cTa>cAa p.L496Q HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.L454Q NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 496 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) CAGGAGCAGCTAGAACAGAAA 0.403000 44 147 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41819100 41819100 + Missense_Mutation SNP C C T rs147818852 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:41819100C>T ENST00000304330.4 - 14 2029 c.1913G>A c.(1912-1914)cGg>cAg p.R638Q RPAP1_ENST00000561603.1_Missense_Mutation_p.R638Q NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 638 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTCACCAGCCGGGCAGCAAT 0.582000 23 200 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591720 46591720 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:46591720C>T ENST00000398637.5 - 15 1940 c.1246G>A c.(1246-1248)Gat>Aat p.D416N SLC38A1_ENST00000552197.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D416N|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D416N NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 416 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CCAAAAATATCCTTCATGGAG 0.383000 6 55 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7360037 7360037 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:7360037C>T ENST00000306071.2 + 11 1568 c.1501C>T c.(1501-1503)Cct>Tct p.P501S CHRNB1_ENST00000575379.1_Missense_Mutation_p.P37S|CHRNB1_ENST00000536404.2_Missense_Mutation_p.P429S|CHRNB1_ENST00000576360.1_Missense_Mutation_p.P380S NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 501 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) AGACCCCTTTCCTTGAAGACT 0.552000 9 30 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19822451 19822451 + Nonsense_Mutation SNP G G A rs150668126 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:19822451G>A ENST00000344099.3 - 4 1777 c.1639C>T c.(1639-1641)Cga>Tga p.R547* NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R547*(2) breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TCATGCAATCGAATTTGACTG 0.388000 8 69 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651506 75651506 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:75651506G>A ENST00000565683.1 - 18 2097 c.2086C>T c.(2086-2088)Cct>Tct p.P696S MAN2C1_ENST00000267978.5_Intron|MAN2C1_ENST00000569482.1_Intron|MAN2C1_ENST00000563622.1_Intron NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 673 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 TTTGTGGGAGGAGGCCTTGAG 0.612000 5 35 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650017 146650017 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:146650017G>A ENST00000607149.1 + 0 350 GTTTAGAGATGGTGAAGAAGC 0.473000 7 61 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85660996 85660996 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:85660996C>T ENST00000310298.4 + 18 1912 c.1660C>T c.(1660-1662)Ccc>Tcc p.P554S PDE8A_ENST00000339708.5_Missense_Mutation_p.P508S|PDE8A_ENST00000394553.1_Missense_Mutation_p.P554S|PDE8A_ENST00000557957.1_Missense_Mutation_p.P482S O60658 PDE8A_HUMAN phosphodiesterase 8A 554 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TTCCTCCAATCCCTACCACAA 0.423000 22 189 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132439914 132439914 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:132439914G>A ENST00000370828.3 - 6 1565 c.1041C>T c.(1039-1041)ctC>ctT p.L347L GPC4_ENST00000535467.1_Silent_p.L277L NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 347 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GTCCAGCTGGGAGGGGCTTGG 0.587000 35 150 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8404567 8404567 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:8404567G>A ENST00000381196.4 - 33 4723 c.4180C>T c.(4180-4182)Cat>Tat p.H1394Y PTPRD_ENST00000540109.1_Missense_Mutation_p.H1394Y|PTPRD_ENST00000360074.4_Missense_Mutation_p.H1381Y|PTPRD_ENST00000358503.5_Missense_Mutation_p.H1372Y|PTPRD_ENST00000355233.5_Missense_Mutation_p.H988Y|PTPRD_ENST00000397617.3_Missense_Mutation_p.H987Y|PTPRD_ENST00000537002.1_Missense_Mutation_p.H984Y|PTPRD_ENST00000486161.1_Missense_Mutation_p.H987Y|PTPRD_ENST00000356435.5_Missense_Mutation_p.H1394Y|PTPRD_ENST00000397606.3_Missense_Mutation_p.H987Y|PTPRD_ENST00000397611.3_Missense_Mutation_p.H984Y NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1394 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACCCGGGAATGATCATATGCG 0.378000 TSP Lung(15;0.13) 4 25 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9853781 9853781 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:9853781G>A ENST00000256190.8 - 27 3779 c.3642C>T c.(3640-3642)tcC>tcT p.S1214S NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1214 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CGGCCTGAGGGGAGTTCTGAG 0.448000 6 33 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997880 115997880 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:115997880G>A ENST00000264363.2 - 2 991 c.313C>T c.(313-315)Cag>Tag p.Q105* NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 105 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGTGGTACTGAAATCGGCTG 0.408000 16 48 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85343111 85343111 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:85343111C>T ENST00000299927.3 + 7 3198 c.3176C>T c.(3175-3177)tCc>tTc p.S1059F ZNF592_ENST00000560079.2_Missense_Mutation_p.S1059F Q92610 ZN592_HUMAN zinc finger protein 592 1059 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCTCGGCCCTCCCTTCTGGAG 0.587000 23 86 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019901 20019901 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20019901G>A ENST00000551509.1 - 1 371 c.320C>T c.(319-321)cCc>cTc p.P107L NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 107 endometrium(4)|kidney(1)|lung(4) 9 CCTGCAGCAGGGGAAGCAGTG 0.612000 9 228 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564173 8564173 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8564173G>A ENST00000423345.4 - 2 1039 c.519C>T c.(517-519)ctC>ctT p.L173L PRAM1_ENST00000255612.3_Silent_p.L173L Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 221 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CGGGGTGACTGAGTTCGTCGG 0.701000 5 28 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20330963 20330963 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20330963G>A ENST00000302555.5 - 6 1135 c.986C>T c.(985-987)gCt>gTt p.A329V GP2_ENST00000381360.5_Missense_Mutation_p.A185V|GP2_ENST00000381362.4_Missense_Mutation_p.A332V|GP2_ENST00000341642.5_Missense_Mutation_p.A182V|GP2_ENST00000573897.1_5'UTR P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 332 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTGCAAGGCAGCTTGGAGGCT 0.473000 15 117 0 0 1 0 0 GPR1 2825 broad.mit.edu 37 2 207041960 207041960 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:207041960C>T ENST00000407325.2 - 3 374 c.12G>A c.(10-12)ttG>ttA p.L4L GPR1_ENST00000437420.1_Silent_p.L4L NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3 NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2 P46091 GPR1_HUMAN G protein-coupled receptor 1 4 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 18 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) ATGTTTCCTCCAAATCTTCCA 0.323000 6 47 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3738603 3738603 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3738603C>T ENST00000541714.2 + 12 1797 c.1335C>T c.(1333-1335)ttC>ttT p.F445F TJP3_ENST00000589378.1_Silent_p.F454F|TJP3_ENST00000262968.9_Silent_p.F478F|TJP3_ENST00000382008.3_Silent_p.F459F|TJP3_ENST00000587686.1_Silent_p.F464F|TJP3_ENST00000539908.2_Silent_p.F409F NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 459 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAGTGCAGTTCCTGCTGGGGC 0.592000 20 94 0 0 1 0 0 RBP2 5948 broad.mit.edu 37 3 139180971 139180971 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:139180971C>T ENST00000232217.2 - 2 291 c.235G>A c.(235-237)Gat>Aat p.D79N RP11-319G6.1_ENST00000515247.1_RNA NM_004164.2 NP_004155.2 P50120 RET2_HUMAN retinol binding protein 2, cellular 79 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) TGCCGGTTATCCAGGCTCTTT 0.423000 10 86 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112084550 112084550 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:112084550C>T ENST00000357685.5 + 9 1433 c.1298C>T c.(1297-1299)aCt>aTt p.T433I BCO2_ENST00000532593.1_Missense_Mutation_p.T328I|BCO2_ENST00000361053.4_Missense_Mutation_p.T360I|BCO2_ENST00000438022.1_Missense_Mutation_p.T399I|BCO2_ENST00000526088.1_Missense_Mutation_p.T399I|BCO2_ENST00000393032.2_Missense_Mutation_p.T399I|BCO2_ENST00000531169.1_Missense_Mutation_p.T399I Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 433 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TTGTCCTATACTTCAGCCAGT 0.413000 14 147 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9528533 9528533 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:9528533G>A ENST00000281419.3 + 22 2581 c.2241G>A c.(2239-2241)aaG>aaA p.K747K ASAP2_ENST00000315273.4_Silent_p.K747K|ASAP2_ENST00000491413.1_3'UTR NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 747 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACCTTGCCAAGGAGAAGCAGA 0.602000 5 58 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905329 50905329 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50905329G>A ENST00000440232.2 + 5 590 c.537G>A c.(535-537)ggG>ggA p.G179G POLD1_ENST00000595904.1_Silent_p.G179G|POLD1_ENST00000599857.1_Silent_p.G179G NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 179 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GTCGCGGGGGGAGGGAGCTGA 0.672000 DNA polymerases (catalytic subunits) 5 74 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698482 79698482 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:79698482C>T ENST00000538312.1 + 5 778 c.444C>T c.(442-444)tcC>tcT p.S148S FAM46D_ENST00000308293.5_Silent_p.S148S NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 148 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GTCTTATCTCCCTTTCAAATA 0.373000 21 64 0 0 1 0 0 SCML4 256380 broad.mit.edu 37 6 108076820 108076820 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:108076820C>T ENST00000369021.3 - 1 23 c.24G>A c.(22-24)tgG>tgA p.W8* SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) CGCAACCTATCCAAGCTGTTC 0.433000 14 65 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459673 142459673 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142459673G>A ENST00000486171.1 + 4 308 c.291G>A c.(289-291)ggG>ggA p.G97G PRSS1_ENST00000311737.7_Silent_p.G83G P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 83 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) TCCTGGAGGGGAATGAGCAGT 0.547000 7 185 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84519872 84519872 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:84519872C>T ENST00000395226.2 + 12 1419 c.1201C>T c.(1201-1203)Ccc>Tcc p.P401S AGPAT9_ENST00000264409.4_Missense_Mutation_p.P401S|AGPAT9_ENST00000509044.1_3'UTR NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 401 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GACTGAACTTCCCTGGTAAGA 0.343000 9 39 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172775 5172775 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5172775G>A ENST00000380367.1 - 2 1242 c.825C>T c.(823-825)atC>atT p.I275I OR52A1_ENST00000328942.1_Silent_p.I275I Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 275 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGAATATGGATATAAGGGG 0.433000 8 80 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41949548 41949548 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:41949548G>A ENST00000298919.7 + 7 959 c.571G>A c.(571-573)Gat>Aat p.D191N PDZRN4_ENST00000539469.2_Missense_Mutation_p.D193N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.D451N Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 451 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) TCGAGAAGGGGATCGGATTTT 0.408000 6 58 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46783737 46783737 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:46783737A>G ENST00000529230.1 - 32 4080 c.4034T>C c.(4033-4035)cTg>cCg p.L1345P CKAP5_ENST00000354558.3_Missense_Mutation_p.L1345P|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1345P|CKAP5_ENST00000415402.1_Missense_Mutation_p.L1345P Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1345 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 CAGCTCTTCCAGGCACTCTGA 0.448000 3 26 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189910551 189910551 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:189910551C>T ENST00000374866.3 - 46 3558 c.3284G>A c.(3283-3285)gGa>gAa p.G1095E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1095 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTGCATCTCCTGGAGCACC 0.537000 5 43 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54758778 54758778 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54758778C>T ENST00000450632.1 - 6 1125 c.1048G>A c.(1048-1050)Ggg>Agg p.G350R LILRB5_ENST00000449561.2_Missense_Mutation_p.G359R|LILRB5_ENST00000316219.5_Missense_Mutation_p.G359R|LILRB5_ENST00000345866.6_Missense_Mutation_p.G259R O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 359 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGCTGCCCCCTCCTTGGTC 0.562000 3 43 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516851 157516851 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:157516851C>T ENST00000361835.3 - 3 346 c.189G>A c.(187-189)ggG>ggA p.G63G FCRL5_ENST00000368190.3_Silent_p.G63G|FCRL5_ENST00000368189.3_Silent_p.G63G|FCRL5_ENST00000368188.2_Silent_p.G63G|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Silent_p.G63G NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 63 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GTATTTCTTTCCCAAGGTACC 0.502000 8 75 0 0 1 0 0 KPTN 11133 broad.mit.edu 37 19 47984043 47984043 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:47984043G>A ENST00000338134.3 - 6 680 c.573C>T c.(571-573)ttC>ttT p.F191F KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 191 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) TCAGCTCTGGGAAGAGGTTTT 0.597000 16 181 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44798973 44798973 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:44798973C>T ENST00000309315.4 + 7 1030 c.907C>T c.(907-909)Cct>Tct p.P303S ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P303S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P271S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P271S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P303S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 303 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGCCCCCTCCCCTTCCTACCC 0.657000 6 97 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17592200 17592200 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:17592200G>A ENST00000375460.3 + 4 433 c.393G>A c.(391-393)agG>agA p.R131R NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 131 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGCAGGACAGGAACTTTGTAG 0.542000 9 105 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134034310 134034310 + Silent SNP C C T rs148528207 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:134034310C>T ENST00000220616.4 + 40 6991 c.6951C>T c.(6949-6951)atC>atT p.I2317I TG_ENST00000377869.1_Silent_p.I2260I|TG_ENST00000542445.1_Silent_p.I687I|TG_ENST00000519543.1_Silent_p.I450I NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2317 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) GGCCGGCTATCGACGGCTCCT 0.577000 20 79 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640765 21640765 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21640765T>C ENST00000328843.6 + 17 3424 c.3393T>C c.(3391-3393)ttT>ttC p.F1131F DNAH11_ENST00000409508.3_Silent_p.F1131F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1131 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GCTGGATGTTTCAGGAGCATC 0.348000 Kartagener syndrome 7 41 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55152041 55152041 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55152041C>T ENST00000414150.2 + 15 2909 c.2631C>T c.(2629-2631)atC>atT p.I877I MROH7_ENST00000339553.5_Silent_p.I877I|MROH7_ENST00000409996.1_Silent_p.I445I|MROH7_ENST00000395690.2_Silent_p.I877I|MROH7_ENST00000421030.2_Silent_p.I877I|MROH7_ENST00000545244.1_Silent_p.I445I|MROH7_ENST00000454855.2_Silent_p.I395I maestro heat-like repeat family member 7 ATTACCACATCGGCCTCAACC 0.622000 13 43 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7786873 7786873 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:7786873G>A ENST00000358415.4 + 19 2694 c.2528G>A c.(2527-2529)gGa>gAa p.G843E ITIH2_ENST00000379587.4_Missense_Mutation_p.G832E NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 843 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GACTTTCTGGGAATCTACATA 0.428000 22 77 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026977 155026977 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:155026977C>T ENST00000356955.2 + 6 708 c.607C>T c.(607-609)Cgc>Tgc p.R203C ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368412.3_Missense_Mutation_p.R203C|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000360674.4_Missense_Mutation_p.R203C|ADAM15_ENST00000271836.6_Missense_Mutation_p.R203C|ADAM15_ENST00000359280.4_Missense_Mutation_p.R203C|ADAM15_ENST00000531455.1_Missense_Mutation_p.R213C|ADAM15_ENST00000449910.2_Missense_Mutation_p.R203C|ADAM15_ENST00000355956.2_Missense_Mutation_p.R203C|ADAM15_ENST00000447332.3_Missense_Mutation_p.R187C NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 203 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GCGCCACATTCGCCGGGTGAG 0.597000 9 49 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764322 77764322 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77764322T>A ENST00000521891.2 + 10 5613 c.5165T>A c.(5164-5166)tTt>tAt p.F1722Y ZFHX4_ENST00000455469.2_Missense_Mutation_p.F1677Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F1696Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F1677Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1677 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGCCTCATTTTCCTATGACC 0.478000 HNSCC(33;0.089) 7 65 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141600878 141600878 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:141600878G>A ENST00000442267.2 - 4 554 c.480C>T c.(478-480)ctC>ctT p.L160L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 160 GRAM 1. intracellular calcium ion binding|Rab GTPase activator activity p.L160L(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AATAGTTGACGAGTTTCTCTT 0.418000 6 31 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38484883 38484883 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38484883C>T ENST00000263409.4 - 18 2747 c.2585G>A c.(2584-2586)cGa>cAa p.R862Q LIFR_ENST00000453190.2_Missense_Mutation_p.R862Q NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 862 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTACCATTCTCGTTTCCGATA 0.363000 T PLAG1 salivary adenoma 8 21 0 0 1 0 0 CHMP1A 5119 broad.mit.edu 37 16 89715852 89715852 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:89715852G>A ENST00000253475.5 - 3 271 c.139C>T c.(139-141)Ccg>Tcg p.P47S CHMP1A_ENST00000397901.3_Silent_p.I53I|CHMP1A_ENST00000550102.1_Silent_p.I53I|CHMP1A_ENST00000547614.1_5'UTR|CHMP1A_ENST00000535997.2_5'UTR NM_001083314.2 NP_001076783.1 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 0 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) TCTTCTTGCGGATGGCGTTCT 0.577000 8 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679806 100679806 + Silent SNP C C T rs71525815 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100679806C>T ENST00000306151.4 + 3 5173 c.5109C>T c.(5107-5109)gcC>gcT p.A1703A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1703 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A1703A(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCGGTGGCCAGCTCTGCAA 0.478000 99 236 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172558946 172558946 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:172558946G>A ENST00000367723.3 + 17 3285 c.3161G>A c.(3160-3162)gGa>gAa p.G1054E SUCO_ENST00000263688.3_Missense_Mutation_p.G902E NM_016227.2 NP_057311.2 SUN domain containing ossification factor TATGCTAATGGAAATCTTGTA 0.373000 17 82 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052448 52052448 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:52052448C>T ENST00000340057.1 + 2 120 c.75C>T c.(73-75)atC>atT p.I25I NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 25 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) AGGCAGGAATCACAATCCCAC 0.478000 38 249 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113890711 113890711 + Silent SNP G G A rs143953030 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:113890711G>A ENST00000383673.2 - 2 559 c.129C>T c.(127-129)atC>atT p.I43I DRD3_ENST00000295881.7_Silent_p.I43I|DRD3_ENST00000460779.1_Silent_p.I43I|DRD3_ENST00000467632.1_Silent_p.I43I NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 43 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGCCGAAGACGATGGCCAGGA 0.607000 12 62 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1739028 1739028 + Silent SNP C C T rs62285111 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:1739028C>T ENST00000313288.4 + 9 1915 c.1809C>T c.(1807-1809)ttC>ttT p.F603F NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 603 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TTGTGGAGTTCGATTTCTTGG 0.537000 4 40 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150815396 150815396 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150815396C>T ENST00000397238.2 + 6 806 c.806C>T c.(805-807)aCc>aTc p.T269I AGAP3_ENST00000463381.1_Missense_Mutation_p.T41I|AGAP3_ENST00000479901.1_Missense_Mutation_p.T269I|AGAP3_ENST00000335367.3_Missense_Mutation_p.T449I|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.T269I NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 233 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACGTGCGCGACCTACGGGCTC 0.632000 8 136 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113856811 113856811 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:113856811G>A ENST00000504030.2 + 6 1064 c.619G>A c.(619-621)Gga>Aga p.G207R HTR3A_ENST00000355556.2_Missense_Mutation_p.G213R|HTR3A_ENST00000299961.5_Missense_Mutation_p.G192R|HTR3A_ENST00000506841.2_Missense_Mutation_p.G207R|HTR3A_ENST00000375498.2_Missense_Mutation_p.G213R|HTR3A_ENST00000535865.1_Intron P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 207 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) CATGAACCAGGGAGAGTGGGA 0.493000 19 227 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48379322 48379322 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48379322G>A ENST00000380518.3 - 26 1893 c.1729C>T c.(1729-1731)Cct>Tct p.P577S COL2A1_ENST00000337299.6_Missense_Mutation_p.P508S|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 577 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTACAGAAGGGCCAACTTTG 0.597000 10 132 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40933179 40933179 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40933179G>A ENST00000246914.5 + 1 484 c.463G>A c.(463-465)Gaa>Aaa p.E155K NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 155 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GCGGGAGCAGGAAGAAAAGGA 0.647000 6 57 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783475 54783475 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54783475G>A ENST00000391748.1 - 5 510 c.383C>T c.(382-384)gCc>gTc p.A128V LILRB2_ENST00000391749.4_Missense_Mutation_p.A128V|LILRB2_ENST00000314446.5_Missense_Mutation_p.A128V|LILRB2_ENST00000434421.1_Missense_Mutation_p.A12V|LILRB2_ENST00000391746.1_Missense_Mutation_p.A128V NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 128 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) GCTGGGCTGGGCTGAGAGGGT 0.587000 20 107 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891670 132891670 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:132891670C>T ENST00000275198.1 + 1 210 c.210C>T c.(208-210)ctC>ctT p.L70L NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 70 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CCAATTTTCTCGTTGCCTCTC 0.522000 9 71 0 0 1 0 0 CYP2D6 1565 broad.mit.edu 37 22 42526713 42526713 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:42526713T>A ENST00000360608.5 - 1 195 c.81A>T c.(79-81)caA>caT p.Q27H NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.Q27H|CYP2D6_ENST00000359033.4_Missense_Mutation_p.Q27H NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 27 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGCCCAGCGTTGGCGCCGGT 0.632000 4 10 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262019 158262019 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158262019G>A ENST00000368170.3 + 3 753 c.474G>A c.(472-474)ttG>ttA p.L158L NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 158 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GTGGAAGTTTGGCCCAAAGTG 0.453000 32 226 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2578366 2578366 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2578366G>A ENST00000340611.4 - 14 2059 c.1803C>T c.(1801-1803)tcC>tcT p.S601S BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 601 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CCGAGTCTACGGAGAGGATGT 0.672000 7 51 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19465213 19465213 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:19465213C>T ENST00000392313.5 + 17 1644 c.1598C>T c.(1597-1599)cCg>cTg p.P533L MAU2_ENST00000262815.8_Missense_Mutation_p.P533L NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 533 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 AGCAAGATCCCGGACATGTCG 0.617000 8 43 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3648694 3648694 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3648694G>A ENST00000335312.3 - 9 1228 c.1140C>T c.(1138-1140)atC>atT p.I380I PIP5K1C_ENST00000589578.1_Silent_p.I380I|PIP5K1C_ENST00000537021.1_Silent_p.I380I|PIP5K1C_ENST00000539785.1_Silent_p.I380I NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 380 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCACAGCGGGGATCCCGCCCA 0.682000 10 61 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12649237 12649237 + Splice_Site SNP G G A rs138967735 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:12649237G>A ENST00000425538.1 + 9 1173 c.971_splice c.e9-1 p.E325_splice MYOCD_ENST00000395988.1_Splice_Site_p.E229_splice|MYOCD_ENST00000343344.4_Splice_Site_p.E325_splice NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 325 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.E325K(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GTTTTTTAGGGAACCAAATGA 0.418000 11 119 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138400076 138400076 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:138400076G>A ENST00000409968.1 + 21 3996 c.3818G>A c.(3817-3819)cGa>cAa p.R1273Q THSD7B_ENST00000413152.2_Missense_Mutation_p.R1245Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1276Q|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGCCGGACTCGATTTATCATT 0.498000 17 91 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159584071 159584071 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:159584071G>A ENST00000337808.6 + 3 1455 c.e3+1 SCHIP1_ENST00000445224.2_Splice_Site|IQCJ-SCHIP1_ENST00000527095.1_Splice_Site|IQCJ-SCHIP1_ENST00000460298.1_Splice_Site|SCHIP1_ENST00000482804.1_Splice_Site|IQCJ-SCHIP1_ENST00000412423.2_Splice_Site|IQCJ-SCHIP1_ENST00000485419.1_Splice_Site|IQCJ-SCHIP1_ENST00000476809.1_Splice_Site NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 TTTCCTCCCGGTGAGTGTTCT 0.388000 39 88 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100492726 100492726 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:100492726G>A ENST00000395209.3 + 5 927 c.400G>A c.(400-402)Gat>Aat p.D134N DRP2_ENST00000402866.1_Missense_Mutation_p.D134N|DRP2_ENST00000541709.1_Missense_Mutation_p.D56N|DRP2_ENST00000538510.1_Missense_Mutation_p.D134N NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 134 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CCTACAGGGGGATGTGGCCCT 0.542000 20 80 0 0 1 0 0 TRDV1 28518 broad.mit.edu 37 14 22564730 22564730 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22564730C>T ENST00000390452.2 + 0 199 CAAGCAACTTCCCAGCAAAGA 0.428000 8 74 0 0 1 0 0 CXCL9 4283 broad.mit.edu 37 4 76928579 76928579 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:76928579G>A ENST00000264888.5 - 1 62 c.24C>T c.(22-24)ttC>ttT p.F8F NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 8 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGCCCAAGAGGAAAAGAACAC 0.398000 19 75 0 0 1 0 0 MEIS3 56917 broad.mit.edu 37 19 47918073 47918073 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:47918073C>T ENST00000331559.5 - 6 889 c.e6-1 MEIS3_ENST00000441740.2_Splice_Site|MEIS3_ENST00000558555.1_Silent_p.K166K|MEIS3_ENST00000559524.1_Silent_p.K166K|MEIS3_ENST00000561293.1_Silent_p.K166K|MEIS3_ENST00000561096.1_Silent_p.K254K NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GCATCTTTCCCTTGAGGCAGG 0.682000 8 46 0 0 1 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22433746 22433746 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22433746C>T ENST00000390442.3 + 0 67 ATGATGAAATCCTTGAGAGTT 0.348000 4 51 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97194206 97194206 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:97194206G>A ENST00000389672.5 + 8 1943 c.1905G>A c.(1903-1905)atG>atA p.M635I EPHA6_ENST00000442602.2_Start_Codon_SNP_p.M1I|EPHA6_ENST00000502694.1_Missense_Mutation_p.M27I|EPHA6_ENST00000514100.1_Missense_Mutation_p.M27I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 540 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTTCTGACATGGCAGCAGAAC 0.403000 6 22 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39116612 39116612 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39116612C>T ENST00000355612.2 - 6 1173 c.1138G>A c.(1138-1140)Gag>Aag p.E380K AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 380 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) AGCAGGATCTCGTATTCTTGG 0.517000 13 72 0 0 1 0 0 TRBV28 28559 broad.mit.edu 37 7 142428773 142428773 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142428773G>A ENST00000390400.2 + 0 153 ATGTGTCCAGGATATGGACCA 0.428000 9 33 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45843610 45843610 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:45843610G>A ENST00000397928.1 + 23 3989 c.3544G>A c.(3544-3546)Gag>Aag p.E1182K TRPM2_ENST00000397932.2_Missense_Mutation_p.E1232K|TRPM2_ENST00000300482.5_Missense_Mutation_p.E1182K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E1162K|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1182 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CTCCCTGGAGGAGCAGGTGGG 0.657000 4 20 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158896490 158896490 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:158896490G>A ENST00000262178.2 - 4 500 c.315C>T c.(313-315)ttC>ttT p.F105F VIPR2_ENST00000402066.1_Silent_p.F246F NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 105 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) AGGCATCGACGAAATCTGGGA 0.498000 14 71 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046898 73046898 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:73046898G>A ENST00000261180.4 + 17 2907 c.2811G>A c.(2809-2811)tgG>tgA p.W937* NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 937 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 ACCTTGCCTGGAAGTTTTTCA 0.383000 8 30 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26656577 26656577 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:26656577G>A ENST00000256737.3 + 20 2855 c.2003G>A c.(2002-2004)gGa>gAa p.G668E ANO3_ENST00000525139.1_Missense_Mutation_p.G652E|ANO3_ENST00000531568.1_Missense_Mutation_p.G522E|ANO3_ENST00000537978.1_Missense_Mutation_p.G652E NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 668 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GGCCACCCAGGAAAATACAAT 0.448000 15 70 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77895753 77895753 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77895753G>A ENST00000419564.2 - 4 1126 c.662C>T c.(661-663)tCt>tTt p.S221F PEX2_ENST00000522527.1_Missense_Mutation_p.S221F|PEX2_ENST00000357039.4_Missense_Mutation_p.S221F|PEX2_ENST00000520103.1_Missense_Mutation_p.S221F NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 221 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 ACACCATGAAGACAGCTTGGC 0.428000 11 79 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80394569 80394569 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:80394569C>T ENST00000337014.6 + 7 1132 c.658C>T c.(658-660)Ccg>Tcg p.P220S HEXDC_ENST00000327949.9_Missense_Mutation_p.P220S|HEXDC_ENST00000577944.1_Missense_Mutation_p.P220S NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 220 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTGGTGGAGCCGGTGCTCTG 0.652000 3 24 0 0 1 0 0 CKAP2 26586 broad.mit.edu 37 13 53039548 53039548 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:53039548C>T ENST00000378037.5 + 6 1517 c.1427C>T c.(1426-1428)cCt>cTt p.P476L CKAP2_ENST00000490903.1_Missense_Mutation_p.P427L|CKAP2_ENST00000258607.5_Missense_Mutation_p.P475L|CKAP2_ENST00000378034.3_Missense_Mutation_p.P475L NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 476 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 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;2.6e-08) ATCACAAGTCCTATTGAAAAT 0.338000 6 66 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886953 123886953 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123886953C>T ENST00000320891.4 + 1 672 c.672C>T c.(670-672)atC>atT p.I224I NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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) TCTGTTCCATCCTGCGGATCC 0.527000 4 75 0 0 1 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008759 88008759 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:88008759G>A ENST00000276127.4 + 3 603 c.344G>A c.(343-345)gGg>gAg p.G115E CPXCR1_ENST00000373111.1_Missense_Mutation_p.G115E NM_033048.5 NP_149037.4 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 115 intracellular zinc ion binding NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2) 40 TCCCACTCAGGGAAAGTTGAG 0.388000 9 19 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687800 109687800 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:109687800C>T ENST00000277225.5 + 3 1896 c.1607C>T c.(1606-1608)cCc>cTc p.P536L ZNF462_ENST00000457913.1_Missense_Mutation_p.P536L Q96JM2 ZN462_HUMAN zinc finger protein 462 536 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P536L(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ATGTTGGATCCCTTGCAGCAG 0.557000 11 35 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68009769 68009769 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:68009769T>C ENST00000268793.4 - 10 1814 c.1441A>G c.(1441-1443)Acc>Gcc p.T481A NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 456 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) ACCCGATTGGTTGGCTGCTTG 0.587000 6 24 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183090914 183090914 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:183090914C>T ENST00000258341.4 + 12 2304 c.2047C>T c.(2047-2049)Cct>Tct p.P683S NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 683 Laminin IV type A. 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) GCCTGGAGTCCCTGCAACTTG 0.498000 4 34 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059200 248059200 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248059200C>T ENST00000537741.1 + 3 569 c.312C>T c.(310-312)ttC>ttT p.F104F OR2W3_ENST00000360358.3_Silent_p.F104F Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 104 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) TCTTCCTGTTCCTGGGTCTGG 0.552000 15 67 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519768 53519768 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:53519768G>A ENST00000370905.3 - 2 443 c.303C>T c.(301-303)atC>atT p.I101I KLHL31_ENST00000407079.1_Silent_p.I101I NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 101 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) CTTTTTTTAGGATGTTGTAAA 0.423000 11 105 0 0 1 0 0 PBX4 80714 broad.mit.edu 37 19 19681073 19681073 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:19681073G>A ENST00000251203.8 - 4 763 c.477C>T c.(475-477)ctC>ctT p.L159L NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 159 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 GCTCCTGGAGGAGGTTGGTGA 0.622000 3 20 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496363 135496363 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135496363G>A ENST00000394143.1 + 25 9373 c.9082G>A c.(9082-9084)Gga>Aga p.G3028R GPR112_ENST00000287534.4_Missense_Mutation_p.G2747R|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823R|GPR112_ENST00000412101.1_Missense_Mutation_p.G2823R|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3028 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TAAACAGGAGGGACTAAAGAA 0.388000 30 86 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629266 47629266 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:47629266G>A ENST00000546455.1 + 4 1151 c.420G>A c.(418-420)ctG>ctA p.L140L PCED1B_ENST00000432328.1_Silent_p.L140L PC-esterase domain containing 1B GAAGCTACCTGGAGAACCTGG 0.617000 11 65 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288585 57288585 + Silent SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:57288585C>G ENST00000543872.2 + 2 1437 c.1173C>G c.(1171-1173)tcC>tcG p.S391S SMG8_ENST00000300917.5_Silent_p.S391S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.S391S|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 391 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AACAACTTTCCTTTCACATTG 0.512000 9 82 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997211 82997211 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82997211C>T ENST00000307792.3 - 17 2486 c.2019G>A c.(2017-2019)gtG>gtA p.V673V SEMA3E_ENST00000427262.1_Silent_p.V613V NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 673 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TCTCCTCTTCCACTACCTCCA 0.478000 5 49 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31167798 31167798 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:31167798C>T ENST00000349752.5 - 8 1392 c.753G>A c.(751-753)tgG>tgA p.W251* GALNT14_ENST00000356174.3_Nonsense_Mutation_p.W218*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.W256*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.W231*|GALNT14_ENST00000420311.2_Nonsense_Mutation_p.W216* NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 251 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AGTGGAGGCTCCAGTCAAACC 0.582000 10 42 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136386 55136386 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55136386C>T ENST00000314706.3 + 1 1027 c.1027C>T c.(1027-1029)Cac>Tac p.H343Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 343 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGGCTGTATCACTCATGAGA 0.358000 4 72 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59195287 59195287 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:59195287C>T ENST00000262717.4 + 7 1503 c.1105C>T c.(1105-1107)Cca>Tca p.P369S CDH20_ENST00000538374.1_Missense_Mutation_p.P369S|CDH20_ENST00000536675.2_Missense_Mutation_p.P369S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 369 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAACTTGGGCCCATTTCAGGA 0.493000 6 78 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14840739 14840739 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:14840739C>T ENST00000282096.4 + 7 2144 c.1791C>T c.(1789-1791)tgC>tgT p.C597C PDE3B_ENST00000455098.2_Silent_p.C546C NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 597 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTACAGATTGCTGCAGTGGAA 0.299000 11 46 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87726097 87726097 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:87726097G>A ENST00000305344.4 + 2 1748 c.1045G>A c.(1045-1047)Gaa>Aaa p.E349K HTR1E_ENST00000369584.1_Missense_Mutation_p.E349K NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 349 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.E349K(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GAGTTTTAATGAAGACTTTAA 0.443000 9 91 0 0 1 0 0 NAMPT 10135 broad.mit.edu 37 7 105904035 105904035 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:105904035C>G ENST00000222553.3 - 7 1079 c.772G>C c.(772-774)Gaa>Caa p.E258Q NAMPT_ENST00000354289.4_Missense_Mutation_p.E258Q NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 258 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 GCATCTTTTTCATGGTCTTTC 0.358000 6 104 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631910 32631910 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:32631910T>A ENST00000242310.4 - 1 3757 c.3668A>T c.(3667-3669)aAa>aTa p.K1223I NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1223 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTGAATGAATTTCTCATCTTT 0.453000 22 71 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94671218 94671218 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94671218C>T ENST00000260526.6 - 6 714 c.532G>A c.(532-534)Gaa>Aaa p.E178K ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E178K NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 178 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCCACTGATTCCACAGAAACA 0.318000 14 65 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872784 55872784 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55872784C>T ENST00000313503.1 + 1 266 c.266C>T c.(265-267)tCc>tTc p.S89F NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S89Y(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTACTGACTTCCAACTATATT 0.433000 HNSCC(53;0.14) 25 326 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234072391 234072391 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234072391C>T ENST00000359570.5 + 14 1243 c.1243C>T c.(1243-1245)Ctc>Ttc p.L415F INPP5D_ENST00000455936.2_Missense_Mutation_p.L179F|INPP5D_ENST00000538935.1_Missense_Mutation_p.L414F|INPP5D_ENST00000450745.1_Missense_Mutation_p.L179F Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 427 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GTCCTGGTTTCTCTCCAAGGG 0.547000 31 96 0 0 1 0 0 CALU 813 broad.mit.edu 37 7 128398930 128398930 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:128398930C>T ENST00000542996.2 + 5 1388 c.445C>T c.(445-447)Cca>Tca p.P149S CALU_ENST00000449187.2_Missense_Mutation_p.P141S|CALU_ENST00000538546.1_5'UTR|CALU_ENST00000535011.2_Missense_Mutation_p.P141S|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000479257.1_Missense_Mutation_p.P149S|CALU_ENST00000249364.4_Missense_Mutation_p.P141S NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 141 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 TCTAGATGATCCAGATCCTGA 0.363000 6 137 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087899 9087899 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9087899C>T ENST00000397910.4 - 1 4119 c.3916G>A c.(3916-3918)Gag>Aag p.E1306K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1306 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E1306Q(2) 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 GCTGTCATCTCAGGTGAAGAC 0.498000 6 106 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18688182 18688182 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:18688182C>T ENST00000406451.3 + 11 1484 c.1334C>T c.(1333-1335)cCc>cTc p.P445L HDAC9_ENST00000405010.3_Missense_Mutation_p.P445L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P448L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P445L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P417L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P404L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P368L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P432L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P443L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P401L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 445 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CGTCACAGACCCCTGAACCGA 0.502000 16 54 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 175956224 175956224 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175956224G>A ENST00000367669.3 - 18 2502 c.1988C>T c.(1987-1989)tCt>tTt p.S663F RFWD2_ENST00000308769.8_Missense_Mutation_p.S639F NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 663 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 CAGGTAGAGAGAGTTATTTTC 0.303000 3 46 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30705003 30705003 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:30705003C>T ENST00000256246.2 - 1 1605 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 511 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGAAATTTTCGTTTGTATGA 0.303000 8 42 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411576 63411576 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:63411576G>A ENST00000330258.3 - 2 1863 c.1591C>T c.(1591-1593)Cga>Tga p.R531* AMER1_ENST00000403336.1_Nonsense_Mutation_p.R531*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.R531* NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TCAGAGCTTCGACCATGGAGG 0.507000 10 20 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997344 146997344 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:146997344C>T ENST00000361727.3 + 9 1976 c.1460C>T c.(1459-1461)cCc>cTc p.P487L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 487 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTAATAGTCCCCTTCAAGTT 0.403000 HNSCC(39;0.1) 10 78 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20248603G>A ENST00000315957.4 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 34 463 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88036196 88036196 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:88036196C>T ENST00000307808.6 + 11 2610 c.2190C>T c.(2188-2190)gtC>gtT p.V730V AFF1_ENST00000544085.1_Silent_p.V368V|AFF1_ENST00000395146.4_Silent_p.V737V NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 730 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCGTGGTGGTCCAGGAGGACA 0.617000 6 33 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172351850 172351850 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:172351850G>A ENST00000475381.1 - 5 875 c.642C>T c.(640-642)ctC>ctT p.L214L NCEH1_ENST00000273512.3_Silent_p.L246L|NCEH1_ENST00000543711.1_Silent_p.L81L|NCEH1_ENST00000538775.1_Silent_p.L254L Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 214 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 CTTGTAGTTTGAGCTTATTTT 0.368000 7 50 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33135238 33135238 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33135238C>T ENST00000341947.2 - 56 4314 c.4087G>A c.(4087-4089)Ggc>Agc p.G1363S COL11A2_ENST00000395197.1_Missense_Mutation_p.G1303S|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1256S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1282S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1277S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1337S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1342S|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1316S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1363 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCATCAGGGCCAGGTTTCCCT 0.652000 5 63 0 0 1 0 0 EIF3B 8662 broad.mit.edu 37 7 2415035 2415035 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2415035C>T ENST00000360876.4 + 14 1957 c.1901C>T c.(1900-1902)gCc>gTc p.A634V EIF3B_ENST00000397011.2_Missense_Mutation_p.A634V NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 634 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) ATGAACGGTGCCTTAGCGTTT 0.582000 17 107 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846191 55846191 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55846191C>T ENST00000322678.1 + 1 194 c.194C>T c.(193-195)tCc>tTc p.S65F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AGAAATTTTTCCTTCTTAGAA 0.398000 17 67 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176984009 176984009 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176984009C>T ENST00000367654.2 - 8 1478 c.1465G>A c.(1465-1467)Gaa>Aaa p.E489K ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E481K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E481K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E481K O14525 ASTN1_HUMAN astrotactin 1 489 EGF-like 1. 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 CAGAGGCATTCCCCTTAGAAG 0.433000 35 209 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155509978 155509978 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:155509978C>T ENST00000302053.3 - 3 409 c.331G>A c.(331-333)Gaa>Aaa p.E111K FGA_ENST00000403106.3_Missense_Mutation_p.E111K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 111 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTCAAAATTTCCATTATATTA 0.274000 16 75 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168098223 168098223 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:168098223C>T ENST00000519560.1 - 34 4526 c.4107G>A c.(4105-4107)cgG>cgA p.R1369R SLIT3_ENST00000404867.3_Silent_p.R1369R|SLIT3_ENST00000332966.8_Silent_p.R1376R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1369 EGF-like 8. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCAGGGGTCCCGGGCCTCCT 0.677000 10 46 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152485376 152485376 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152485376G>A ENST00000367255.5 - 131 24313 c.23712C>T c.(23710-23712)atC>atT p.I7904I SYNE1_ENST00000265368.4_Silent_p.I7904I|SYNE1_ENST00000423061.1_Silent_p.I7833I|SYNE1_ENST00000354674.4_Silent_p.I59I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Silent_p.I7833I|SYNE1_ENST00000341594.5_Silent_p.I7516I|SYNE1_ENST00000356820.4_Silent_p.I2428I|SYNE1_ENST00000539504.1_Silent_p.I59I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7904 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) GCTCTGACTCGATGTGAGCGA 0.502000 HNSCC(10;0.0054) 7 85 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115947744 115947744 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:115947744A>G ENST00000251864.2 + 2 307 c.154A>G c.(154-156)Aat>Gat p.N52D TDRD1_ENST00000369281.2_Missense_Mutation_p.N52D|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.N52D|TDRD1_ENST00000369282.1_Missense_Mutation_p.N52D NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 52 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TAACCACCCTAATTTCAGGCT 0.363000 6 95 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21265251 21265251 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21265251G>A ENST00000233242.1 - 3 346 c.219C>T c.(217-219)gcC>gcT p.A73A APOB_ENST00000399256.4_Silent_p.A73A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 73 Heparin-binding.|Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGATCCTGGTGGCACTTCTTG 0.572000 17 72 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54395784 54395784 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54395784G>A ENST00000263431.3 + 7 990 c.708G>A c.(706-708)gtG>gtA p.V236V PRKCG_ENST00000542049.1_Silent_p.V123V|PRKCG_ENST00000540413.1_Silent_p.V236V|PRKCG_ENST00000536044.1_Silent_p.V236V NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 236 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CAGGGGATGTGGAGCGCCGGC 0.662000 5 23 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73062953 73062953 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73062953G>A ENST00000429829.1 - 0 9635 NR_001564.2 AGGTCAGGGAGGGAGAAAACC 0.463000 8 29 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055379 72055379 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:72055379G>A ENST00000555818.1 + 2 1138 c.790G>A c.(790-792)Ggg>Agg p.G264R SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G264R|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G264R NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 264 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGTAATAGACGGGCCTATCTC 0.443000 10 53 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40433627 40433627 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:40433627C>T ENST00000301825.3 + 3 272 c.154C>T c.(154-156)Cct>Tct p.P52S ENTPD3_ENST00000456402.1_Missense_Mutation_p.P52S|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.P52S|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 52 integral to membrane ATP binding|hydrolase activity p.P52S(2) endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AGAGGTCCTCCCTCCAGGACT 0.453000 13 59 0 0 1 0 0 UBE2J2 118424 broad.mit.edu 37 1 1190811 1190811 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:1190811G>A ENST00000347370.2 - 7 869 c.396C>T c.(394-396)ctC>ctT p.L132L UBE2J2_ENST00000349431.6_Silent_p.L184L|UBE2J2_ENST00000360466.2_Silent_p.L184L|UBE2J2_ENST00000339385.6_Silent_p.L149L|UBE2J2_ENST00000400930.4_Silent_p.L200L|UBE2J2_ENST00000348298.7_Silent_p.L132L|UBE2J2_ENST00000400929.2_Silent_p.L132L NM_194458.1 NP_919440.1 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 184 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) CTGGCAAGGGGAGAGTCTGGG 0.567000 20 178 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52535658 52535658 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:52535658G>A ENST00000321725.6 + 3 296 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 74 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCCCAGCTACGAAGTACAGCT 0.652000 3 4 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38652966 38652966 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:38652966C>T ENST00000222345.6 + 14 4244 c.3735C>T c.(3733-3735)tcC>tcT p.S1245S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1245 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGCACCCGTCCAGGCAGGATG 0.627000 4 28 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73713655 73713655 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:73713655G>A ENST00000342056.2 + 2 821 c.423G>A c.(421-423)ttG>ttA p.L141L KCNQ5_ENST00000370392.1_Silent_p.L141L|KCNQ5_ENST00000414165.2_Silent_p.L141L|KCNQ5_ENST00000403813.2_Silent_p.L141L|KCNQ5_ENST00000402622.2_Silent_p.L141L|KCNQ5_ENST00000370398.1_Silent_p.L141L|KCNQ5_ENST00000355635.3_Silent_p.L141L|KCNQ5_ENST00000355194.4_Silent_p.L141L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 141 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTGGTTGCTTGATTTTGTCAG 0.363000 8 47 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836235 12836235 + Silent SNP C C T rs111797423 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12836235C>T ENST00000357726.4 + 2 864 c.837C>T c.(835-837)ctC>ctT p.L279L NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 279 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTTTCCTCGAAGGCCACC 0.498000 12 144 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128150933 128150933 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128150933C>T ENST00000368250.1 - 4 658 c.160G>A c.(160-162)Ggt>Agt p.G54S THEMIS_ENST00000368248.2_Missense_Mutation_p.G133S|THEMIS_ENST00000543064.1_Missense_Mutation_p.G133S|THEMIS_ENST00000537166.1_Missense_Mutation_p.G98S Q8N1K5 THMS1_HUMAN thymocyte selection associated 133 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATTTGCTCACCCTGCTTTATG 0.398000 13 78 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70960074 70960074 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:70960074T>C ENST00000322954.6 - 16 3134 c.2949A>G c.(2947-2949)gtA>gtG p.V983V UACA_ENST00000379983.2_Silent_p.V970V|UACA_ENST00000539319.1_Silent_p.V874V|UACA_ENST00000560441.1_Silent_p.V968V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 983 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GGGCGTATTTTACCTTAATGC 0.408000 13 64 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6204140 6204140 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:6204140G>A ENST00000262450.3 - 12 1977 c.1878C>T c.(1876-1878)atC>atT p.I626I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 626 Chromo 2. 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) CGATGTCATCGATCTCCCAGG 0.592000 42 145 0 0 1 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085145 35085145 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:35085145G>A ENST00000601241.1 - 3 2281 c.181C>T c.(181-183)Ctc>Ttc p.L61F SCGB2B2_ENST00000379204.2_Missense_Mutation_p.L61F|SCGB2B2_ENST00000595326.1_Intron Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 61 extracellular region binding TGGACATTGAGGAAGGACTCC 0.502000 8 96 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48056375 48056375 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:48056375C>T ENST00000316364.5 + 11 1409 c.970C>T c.(970-972)Cct>Tct p.P324S SEMA6D_ENST00000536845.2_Missense_Mutation_p.P324S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P324S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P324S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P324S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P324S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.P324S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P324S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 324 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TTTCAGCATCCCTGGTTCTGC 0.453000 18 73 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49012224 49012224 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49012224C>T ENST00000600059.1 - 5 668 c.441G>A c.(439-441)gtG>gtA p.V147V LMTK3_ENST00000270238.3_Silent_p.V176V lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTCCCAGGATCACCTGGTCAA 0.667000 10 49 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27640068 27640068 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:27640068C>T ENST00000261588.4 + 4 246 c.227C>T c.(226-228)gCc>gTc p.A76V NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 76 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GTCAACGGTGCCAATTCGGAG 0.517000 13 127 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92623781 92623781 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:92623781C>T ENST00000298047.6 + 27 13289 c.13272C>T c.(13270-13272)agC>agT p.S4424S FAT3_ENST00000533797.1_Silent_p.S727S|FAT3_ENST00000525166.1_Silent_p.S4274S|FAT3_ENST00000409404.2_Silent_p.S4392S|FAT3_ENST00000489716.1_3'UTR Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4424 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) AGCTGGAGAGCGATTACTACC 0.587000 TCGA Ovarian(4;0.039) 5 37 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 6903390 6903390 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:6903390C>T ENST00000486284.1 + 1 589 c.315C>T c.(313-315)atC>atT p.I105I GRM7_ENST00000403881.1_Silent_p.I105I|GRM7_ENST00000402647.2_Silent_p.I105I|GRM7_ENST00000389336.4_Silent_p.I105I|GRM7_ENST00000357716.4_Silent_p.I105I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 105 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 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) GCGCGCGGATCCTGGACACTT 0.602000 6 26 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23810745 23810745 + Splice_Site SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:23810745T>C ENST00000354639.3 + 14 2228 c.e14+2 STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000405627.3_Splice_Site NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AGTATTGAGGTTTGATTGTGC 0.303000 4 54 0 0 1 0 0 PVRIG 79037 broad.mit.edu 37 7 99818869 99818869 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99818869C>T ENST00000317271.2 + 6 1339 c.976C>T c.(976-978)Cga>Tga p.R326* GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron NM_024070.3 NP_076975.2 Q6DKI7 PVRIG_HUMAN poliovirus receptor related immunoglobulin domain containing 326 integral to membrane breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2) 11 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTTAGGAGTTCGATGAGAGAG 0.607000 3 19 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64048668 64048668 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:64048668G>A ENST00000443617.2 - 5 1588 c.1501C>T c.(1501-1503)Ccc>Tcc p.P501S NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 501 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ATAAGCTTGGGATATTTCTGT 0.393000 4 98 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56718094 56718094 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56718094G>A ENST00000425394.2 - 12 2288 c.1912C>T c.(1912-1914)Cga>Tga p.R638* PAN2_ENST00000257931.5_Nonsense_Mutation_p.R638*|PAN2_ENST00000440411.3_Nonsense_Mutation_p.R638*|PAN2_ENST00000548043.1_Nonsense_Mutation_p.R638* NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 638 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCAGCACCTCGATAAGCCTGT 0.473000 21 93 0 0 1 0 0 GNA11 2767 broad.mit.edu 37 19 3119271 3119271 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3119271C>T ENST00000078429.4 + 6 1045 c.803C>T c.(802-804)tCc>tTc p.S268F GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 268 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) CAGAACTCCTCCGTCATCCTC 0.597000 Mis uveal melanoma 16 81 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981719 61981719 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:61981719G>A ENST00000370263.4 - 5 1265 c.1044C>T c.(1042-1044)ttC>ttT p.F348F 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) 348 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) CGATGTCCAGGAAGACCCTGC 0.622000 4 51 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124028187 124028187 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:124028187G>A ENST00000422452.2 - 3 556 c.493C>T c.(493-495)Cct>Tct p.P165S TENM1_ENST00000371130.3_Missense_Mutation_p.P165S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CAACAAACAGGAGAGAATTTG 0.408000 12 35 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483628 19483628 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:19483628C>T ENST00000507958.1 - 14 2654 c.1664G>A c.(1663-1665)aGa>aAa p.R555K CDH18_ENST00000382275.1_Missense_Mutation_p.R555K|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000274170.4_Missense_Mutation_p.R555K|CDH18_ENST00000502796.1_Intron Q13634 CAD18_HUMAN cadherin 18, type 2 555 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCGACTAAATCTCCTCCGCCT 0.443000 6 45 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481133 228481133 + Silent SNP G G A rs140221070 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228481133G>A ENST00000570156.2 + 46 12308 c.12234G>A c.(12232-12234)ctG>ctA p.L4078L OBSCN_ENST00000366707.4_Silent_p.L768L|OBSCN_ENST00000422127.1_Silent_p.L3649L|OBSCN_ENST00000359599.6_Silent_p.L2496L|OBSCN_ENST00000284548.11_Silent_p.L3649L|OBSCN_ENST00000366709.4_Silent_p.L768L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3119 Ig-like 42. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGTGTGAGCTGAGCAAGATGG 0.602000 5 53 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74658690 74658690 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:74658690G>A ENST00000334011.5 + 2 548 c.330G>A c.(328-330)ggG>ggA p.G110G NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 110 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GCTTCAATGGGAACTGCTGTC 0.572000 5 34 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62931460 62931460 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:62931460G>A ENST00000306494.6 - 9 1479 c.1480C>T c.(1480-1482)Cga>Tga p.R494* SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 494 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GGCAGGGGTCGAGAATATATG 0.493000 10 146 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912754 150912754 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:150912754G>A ENST00000329903.4 + 6 1812 c.1779G>A c.(1777-1779)atG>atA p.M593I NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 593 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CAACCAGCATGGAGGTCGACG 0.577000 27 94 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70908242 70908242 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:70908242G>A ENST00000393567.2 - 64 11064 c.10914C>T c.(10912-10914)atC>atT p.I3638I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3638 p.I3637I(1)|p.I3589I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTCCTCGATGATCTCTGTGA 0.488000 14 105 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621577 118621577 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:118621577G>A ENST00000354673.2 - 9 1463 c.1083C>T c.(1081-1083)acC>acT p.T361T IGSF11_ENST00000441144.2_Silent_p.T337T|IGSF11_ENST00000491903.1_Silent_p.T334T|IGSF11_ENST00000393775.2_Silent_p.T362T|IGSF11_ENST00000425327.2_Silent_p.T361T|IGSF11_ENST00000489689.1_Silent_p.T338T NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 362 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GGACCAGATGGGTCCCATTAG 0.498000 18 81 0 0 1 0 0 NREP 9315 broad.mit.edu 37 5 111066649 111066649 + Missense_Mutation SNP G G A rs143712463 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:111066649G>A ENST00000379671.3 - 5 440 c.176C>T c.(175-177)tCc>tTc p.S59F NREP_ENST00000509427.1_Missense_Mutation_p.S59F|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000453526.2_Missense_Mutation_p.S59F|NREP_ENST00000446294.2_Missense_Mutation_p.S59F|NREP_ENST00000447165.2_Missense_Mutation_p.S59F|NREP_ENST00000450761.2_Missense_Mutation_p.S59F|NREP_ENST00000257435.7_Missense_Mutation_p.S59F|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000419114.2_Missense_Mutation_p.S59F|NREP_ENST00000508870.1_Missense_Mutation_p.S59F|NREP_ENST00000509025.1_Intron|NREP_ENST00000395634.3_Missense_Mutation_p.S103F|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000455559.2_Missense_Mutation_p.S59F NM_001142478.1 NP_001135950.1 Q16612 NP311_HUMAN neuronal regeneration related protein 59 cytoplasm p.S59F(1) GATTCTTGGGGAGCGGAGTTC 0.463000 5 79 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117222528 117222528 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:117222528T>C ENST00000278935.3 + 5 364 c.217T>C c.(217-219)Tac>Cac p.Y73H NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 73 Interaction with ATRIP.|WW. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGGTGACATTTACTATTTCAA 0.463000 17 82 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1260663 1260663 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:1260663C>T ENST00000310581.5 - 12 2953 c.2896G>A c.(2896-2898)Gct>Act p.A966T TERT_ENST00000334602.6_Missense_Mutation_p.A903T|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 966 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TTCCTCCCAGCCTTGAAGCCG 0.582000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 6 55 0 0 1 0 0 STC1 6781 broad.mit.edu 37 8 23702404 23702404 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:23702404C>T ENST00000290271.2 - 4 906 c.623G>A c.(622-624)cGa>cAa p.R208Q STC1_ENST00000524323.1_Missense_Mutation_p.R139Q NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 208 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GAAGTCAGCTCGTGGGTGTGT 0.557000 13 65 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179453442 179453442 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179453442C>T ENST00000589042.1 - 304 63234 c.63010G>A c.(63010-63012)Gaa>Aaa p.E21004K TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11939K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12064K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19363K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12131K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18436K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19363 Fibronectin type-III 52. 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) GAATGCTTTTCCTTTTTCTCC 0.418000 9 63 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128114581 128114581 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:128114581G>A ENST00000284694.7 - 8 2160 c.2040C>T c.(2038-2040)ctC>ctT p.L680L C10orf90_ENST00000544758.1_Silent_p.L777L|C10orf90_ENST00000480379.1_Silent_p.L84L|C10orf90_ENST00000356858.3_Silent_p.L633L|C10orf90_ENST00000454341.1_Silent_p.L583L NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 680 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CTTCGGCACGGAGTCTGTTAC 0.413000 16 72 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219892669 219892669 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219892669G>A ENST00000341552.5 - 13 1997 c.1914C>T c.(1912-1914)ttC>ttT p.F638F CCDC108_ENST00000409865.3_Silent_p.F627F|CCDC108_ENST00000410037.1_Silent_p.F573F|CCDC108_ENST00000453220.1_Silent_p.F638F|CCDC108_ENST00000441968.1_Silent_p.F638F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 638 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTGCCGTCGAAGAAGAACT 0.617000 6 75 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121304943 121304943 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121304943C>T ENST00000334384.3 + 4 454 c.444C>T c.(442-444)atC>atT p.I148I NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GAAACCAGATCCTTCCATCCA 0.502000 16 88 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13534868 13534868 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:13534868G>C ENST00000341083.3 - 5 720 c.424C>G c.(424-426)Caa>Gaa p.Q142E BEND7_ENST00000396900.2_Missense_Mutation_p.Q194E|BEND7_ENST00000396898.2_Missense_Mutation_p.Q207E|BEND7_ENST00000378605.3_Missense_Mutation_p.Q155E NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 194 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TGTCTGTTTTGAGTTCCAACT 0.403000 8 56 0 0 1 0 0 FAM173B 134145 broad.mit.edu 37 5 10239212 10239212 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:10239212G>A ENST00000511437.1 - 2 285 c.273C>T c.(271-273)tcC>tcT p.S91S FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Silent_p.S91S|FAM173B_ENST00000280330.8_5'UTR NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 91 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 TGTCCACAAGGGATCCTCTTC 0.418000 22 64 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702223 179702223 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179702223G>A ENST00000420890.2 - 23 3840 c.3723C>T c.(3721-3723)tcC>tcT p.S1241S CCDC141_ENST00000295723.5_Silent_p.S666S|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 666 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GAAGGCTGAGGGAGGAGCTGA 0.587000 7 39 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39597142 39597142 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39597142G>A ENST00000246646.3 - 1 31 c.32C>T c.(31-33)cCt>cTt p.P11L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 11 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GCAACCCAGAGGGCATGAGGA 0.577000 13 52 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566366 5566366 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5566366G>A ENST00000322653.4 - 1 413 c.388C>T c.(388-390)Cac>Tac p.H130Y HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 130 H -> R (in dbSNP:rs1566275). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTACATAGTGATCAAATGCC 0.453000 6 71 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114298150 114298150 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:114298150G>A ENST00000408937.3 + 12 1745 c.1371G>A c.(1369-1371)tcG>tcA p.S457S FOXP2_ENST00000393498.2_Silent_p.S411S|FOXP2_ENST00000403559.4_Silent_p.S449S|FOXP2_ENST00000393494.2_Silent_p.S432S|FOXP2_ENST00000393489.3_Silent_p.S340S|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Silent_p.S432S|FOXP2_ENST00000393491.3_Intron NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 432 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 TCACCATGTCGAAGAATATGT 0.488000 20 84 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6302298 6302298 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:6302298C>T ENST00000344683.5 + 8 1131 c.1055C>T c.(1054-1056)tCc>tTc p.S352F MCPH1_ENST00000522905.1_Missense_Mutation_p.S304F|MCPH1_ENST00000519480.1_Missense_Mutation_p.S352F NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 352 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CCCAGGAGTTCCTCAGTAAAG 0.453000 5 24 0 0 1 0 0 C8orf22 492307 broad.mit.edu 37 8 49986695 49986695 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:49986695G>A ENST00000303202.8 + 3 306 c.133_splice c.e3+1 p.G45_splice C8orf22_ENST00000522267.1_Splice_Site_p.G45_splice|C8orf22_ENST00000399653.4_Splice_Site_p.G45_splice|C8orf22_ENST00000517663.1_Splice_Site_p.G45_splice NM_001256598.1 NP_001243527.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 45 large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ACCACAGCAAGGTACTTAGTT 0.299000 7 44 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21818633 21818633 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21818633C>T ENST00000328843.6 + 58 9446 c.9415C>T c.(9415-9417)Cat>Tat p.H3139Y DNAH11_ENST00000409508.3_Missense_Mutation_p.H3132Y Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3139 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACTGAGAAATCATGATGCCGA 0.488000 Kartagener syndrome 9 35 0 0 1 0 0 COLEC11 78989 broad.mit.edu 37 2 3687900 3687900 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:3687900C>T ENST00000403096.3 + 4 720 c.229C>T c.(229-231)Cct>Tct p.P77S COLEC11_ENST00000349077.4_Missense_Mutation_p.P103S|COLEC11_ENST00000236693.7_Missense_Mutation_p.P100S|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.P117S|COLEC11_ENST00000404205.1_Missense_Mutation_p.P29S|COLEC11_ENST00000382062.2_Missense_Mutation_p.P79S|COLEC11_ENST00000402922.1_Missense_Mutation_p.P53S|COLEC11_ENST00000402794.1_Missense_Mutation_p.P53S NM_001255986.1 NP_001242915.1 Q9BWP8 COL11_HUMAN collectin sub-family member 11 103 Collagen-like. collagen mannose binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1) 22 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CATAGGACCCCCTGGTCCTAA 0.383000 3 19 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830773 13830773 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13830773C>T ENST00000265104.4 - 36 6098 c.5994G>A c.(5992-5994)ggG>ggA p.G1998G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1998 AAA 1 (By similarity). 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) CGACGTATTTCCCGAGGCATC 0.488000 Kartagener syndrome 23 62 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113723471 113723471 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:113723471G>A ENST00000545063.1 - 11 2138 c.1484C>T c.(1483-1485)tCg>tTg p.S495L KIAA1407_ENST00000295878.3_Intron Q8NCU4 K1407_HUMAN KIAA1407 0 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GGCCACCACCGAGACAGCCCT 0.478000 15 57 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657439 46657439 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46657439C>T ENST00000544460.1 + 1 1828 c.1574C>T c.(1573-1575)tCc>tTc p.S525F TDRD6_ENST00000316081.6_Missense_Mutation_p.S525F NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 525 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GGTTTCTATTCCTCTGCCAGT 0.413000 8 124 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12863679 12863679 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:12863679G>A ENST00000155926.4 + 2 1982 c.e2+1 TRIB2_ENST00000405331.3_Splice_Site|TRIB2_ENST00000381465.2_Splice_Site NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACGAAGAGAGGTAGGTCTCAT 0.532000 4 47 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16458685 16458685 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:16458685C>T ENST00000358432.5 - 13 2353 c.2199G>A c.(2197-2199)atG>atA p.M733I NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 733 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GCACATAGTTCATGTTGGCCA 0.622000 16 113 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113860193 113860193 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:113860193G>A ENST00000504030.2 + 9 1590 c.1145G>A c.(1144-1146)gGa>gAa p.G382E HTR3A_ENST00000355556.2_Missense_Mutation_p.G420E|HTR3A_ENST00000299961.5_Missense_Mutation_p.G367E|HTR3A_ENST00000506841.2_Missense_Mutation_p.G414E|HTR3A_ENST00000375498.2_Missense_Mutation_p.G388E|HTR3A_ENST00000535865.1_Missense_Mutation_p.G126E P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 382 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) CCAGCCATGGGAAACCACTGC 0.587000 18 77 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459447 148459447 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:148459447C>T ENST00000542281.1 + 4 1071 c.625C>T c.(625-627)Ctg>Ttg p.L209L AGTR1_ENST00000349243.3_Silent_p.L209L|AGTR1_ENST00000402260.1_Silent_p.L209L|AGTR1_ENST00000418473.2_Silent_p.L209L|AGTR1_ENST00000475347.1_Silent_p.L209L|AGTR1_ENST00000474935.1_Silent_p.L209L|AGTR1_ENST00000497524.1_Silent_p.L209L|AGTR1_ENST00000404754.2_Silent_p.L209L|AGTR1_ENST00000461609.1_Silent_p.L209L NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 209 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GTTTCCTTTTCTGATCATTCT 0.358000 9 31 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220161714 220161714 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220161714G>A ENST00000295718.2 - 15 2469 c.2229C>T c.(2227-2229)ttC>ttT p.F743F PTPRN_ENST00000409251.3_Silent_p.F714F|PTPRN_ENST00000423636.2_Silent_p.F653F NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 743 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CACAGGGCAGGAAGTCAGGAT 0.637000 10 123 0 0 1 0 0 TRBV20-1 28567 broad.mit.edu 37 7 142334690 142334690 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142334690C>T ENST00000390394.3 + 0 190 GATCGAGTGCCGTTCCCTGGA 0.532000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 95 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283803 99283803 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:99283803G>A ENST00000328345.5 + 1 1224 c.1054G>A c.(1054-1056)Ggg>Agg p.G352R NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 352 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CGCAGCGCAAGGGCGCAAGCG 0.592000 6 109 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32587124 32587124 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:32587124A>C ENST00000400236.3 - 5 1707 c.502T>G c.(502-504)Tgc>Ggc p.C168G RFPL2_ENST00000400237.1_Missense_Mutation_p.C258G|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.C197G|RFPL2_ENST00000248983.4_Missense_Mutation_p.C168G NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 258 B30.2/SPRY. zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 GATTCTCTGCAGACTCCCAGG 0.592000 5 87 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41063350 41063350 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:41063350C>T ENST00000253801.2 + 5 1060 c.981C>T c.(979-981)ttC>ttT p.F327F G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 327 Missing (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCTTGTCCTTCTGCAAGAGTG 0.577000 16 153 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383497 118383497 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:118383497G>A ENST00000537242.1 + 0 117 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_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) CTTTTCTGATGAAAAACCATG 0.473000 11 73 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869721 4869721 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4869721C>T ENST00000322101.2 - 1 793 c.718G>A c.(718-720)Gat>Aat p.D240N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCCAGCGATCCTCTCTGGAC 0.517000 11 56 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104115787 104115787 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:104115787G>A ENST00000361355.4 + 5 1034 c.418G>A c.(418-420)Gac>Aac p.D140N AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 140 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGGAAGTAGGGACTTTCCAGC 0.403000 93 614 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210194391 210194391 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:210194391C>T ENST00000537238.1 + 5 511 c.120C>T c.(118-120)tcC>tcT p.S40S SYT14_ENST00000534859.1_Silent_p.S78S|SYT14_ENST00000367015.1_Silent_p.S40S|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Silent_p.S78S|SYT14_ENST00000422431.1_Silent_p.S123S|SYT14_ENST00000472886.1_Silent_p.S78S|SYT14_ENST00000367019.1_Silent_p.S78S NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 78 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) TAGATAATTCCTACATGGACA 0.408000 10 53 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84520255 84520255 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:84520255G>A ENST00000360700.4 + 6 1796 c.910G>A c.(910-912)Gat>Aat p.D304N ZNF711_ENST00000542798.1_Missense_Mutation_p.D100N|ZNF711_ENST00000276123.3_Missense_Mutation_p.D304N|ZNF711_ENST00000373165.3_Missense_Mutation_p.D304N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D282N Q9Y462 ZN711_HUMAN zinc finger protein 711 304 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 AGAAGAAGATGATATCAGTAA 0.403000 9 38 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131553020 131553020 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:131553020C>T ENST00000372648.5 + 3 254 c.104C>T c.(103-105)cCc>cTc p.P35L TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.P35L|TBC1D13_ENST00000539497.1_Intron NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 35 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ACAGGCATCCCCTGTGAGGGC 0.657000 11 111 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234113004 234113004 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234113004C>T ENST00000359570.5 + 28 3172 c.3172C>T c.(3172-3174)Cgc>Tgc p.1058_1058insC INPP5D_ENST00000455936.2_Missense_Mutation_p.822_822insC|INPP5D_ENST00000450745.1_Missense_Mutation_p.822_822insC Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GGAGGCTGATCGCGGCGAGGG 0.711000 6 39 0 0 1 0 0 SPATA19 219938 broad.mit.edu 37 11 133712407 133712407 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:133712407C>T ENST00000299140.3 - 5 464 c.410G>A c.(409-411)cGa>cAa p.R137Q SPATA19_ENST00000532889.1_Missense_Mutation_p.R137Q NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 137 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) TATTCGATCTCGCATGATGTC 0.498000 17 70 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135496364 135496364 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135496364G>A ENST00000394143.1 + 25 9374 c.9083G>A c.(9082-9084)gGa>gAa p.G3028E GPR112_ENST00000287534.4_Missense_Mutation_p.G2747E|GPR112_ENST00000394141.1_Missense_Mutation_p.G2823E|GPR112_ENST00000412101.1_Missense_Mutation_p.G2823E|GPR112_ENST00000370652.1_Missense_Mutation_p.G3028E NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3028 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAACAGGAGGGACTAAAGAAA 0.388000 30 86 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 440748 440748 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:440748G>A ENST00000256509.2 + 26 3944 c.3302G>A c.(3301-3303)gGa>gAa p.G1101E CHL1_ENST00000397491.2_Missense_Mutation_p.G1085E NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1085 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGGTTTATTGGACTGATGTGT 0.368000 17 84 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36872037 36872037 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:36872037C>T ENST00000325718.7 + 9 1083 c.992C>T c.(991-993)tCc>tTc p.S331F CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 331 Poly-Ser. regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) tcctcttcttcctcctcctct 0.562000 T MLL AL 3 14 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7526066 7526066 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7526066G>A ENST00000313599.3 - 14 3637 c.3580C>T c.(3580-3582)Ctc>Ttc p.L1194F CD163L1_ENST00000396630.1_Missense_Mutation_p.L1194F|CD163L1_ENST00000416109.2_Missense_Mutation_p.L1204F Q9NR16 C163B_HUMAN CD163 molecule-like 1 1194 SRCR 11. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AAAGGGGCGAGGCTGACAACT 0.557000 6 96 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71974164 71974164 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71974164G>A ENST00000266674.5 + 16 1824 c.1513G>A c.(1513-1515)Gac>Aac p.D505N LGR5_ENST00000540815.2_Missense_Mutation_p.D481N|LGR5_ENST00000536515.1_Missense_Mutation_p.D433N O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 505 integral to plasma membrane protein-hormone receptor activity p.D505N(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CAGTATGGACGACCTTCATAA 0.408000 20 190 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97851849 97851849 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:97851849C>T ENST00000354565.2 + 1 308 c.308C>T c.(307-309)tCg>tTg p.S103L RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S103L(1) breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CAGTTTTTTTCGTTTGCAATC 0.393000 31 151 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347783 140347783 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140347783A>T ENST00000289269.5 + 1 1964 c.1432A>T c.(1432-1434)Ata>Tta p.I478L PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 478 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCATCTACATACAGGAGAA 0.498000 20 134 0 0 1 0 0 DFFB 1677 broad.mit.edu 37 1 3786216 3786216 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:3786216C>T ENST00000378209.3 + 5 881 c.558C>T c.(556-558)ttC>ttT p.F186F DFFB_ENST00000338895.3_Silent_p.F186F NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) 186 apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) AGGAGGAATTCCTGCGGGTCC 0.647000 3 36 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113588049 113588049 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:113588049G>A ENST00000263341.2 - 7 909 c.699C>T c.(697-699)ttC>ttT p.F233F IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 233 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) ACCAGTTGGGGAACTGGGCAG 0.448000 15 100 0 0 1 0 0 KIR2DL4 3805 broad.mit.edu 37 19 55316316 55316316 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55316316C>T ENST00000396284.2 + 3 139 c.139C>T c.(139-141)Ctt>Ttt p.L47F KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L49F|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L49F|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L49F|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ACACGTGACTCTTCGGTGTCA 0.547000 9 67 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155157995 155157995 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:155157995C>T ENST00000392825.3 + 9 1616 c.1049C>T c.(1048-1050)cCa>cTa p.P350L GALNT13_ENST00000409237.1_Missense_Mutation_p.P350L|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 350 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 AAGGCAACTCCATACACTTTT 0.413000 19 99 0 0 1 0 0 ANKH 56172 broad.mit.edu 37 5 14758679 14758679 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:14758679G>A ENST00000284268.6 - 3 672 c.342C>T c.(340-342)atC>atT p.I114I NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 114 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCAGTTTATTGATAATGTAGT 0.418000 5 59 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10625561 10625561 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:10625561G>A ENST00000254958.5 - 18 2809 c.2294C>T c.(2293-2295)tCc>tTc p.S765F JAG1_ENST00000423891.2_Missense_Mutation_p.S606F NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 765 EGF-like 14. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GCACGTAAAGGACTCGCCGTT 0.592000 Alagille Syndrome 39 224 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123514850 123514850 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123514850C>T ENST00000223026.4 + 4 1628 c.990C>T c.(988-990)gcC>gcT p.A330A HYAL4_ENST00000476325.1_Silent_p.A330A NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 330 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 AAAGTGCTGCCTTGGGAGCTG 0.393000 9 40 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447229 43447229 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:43447229C>T ENST00000395891.1 + 8 1305 c.700C>T c.(700-702)Cag>Tag p.Q234* HECW1_ENST00000453890.1_Nonsense_Mutation_p.Q234*|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 234 C2. 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 GATTTCCATTCAGCCTGGGAA 0.458000 7 28 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805148 54805148 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:54805148A>C ENST00000306858.7 + 5 1495 c.1379A>C c.(1378-1380)aAt>aCt p.N460T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 460 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GCAGACAGGAATTCAAATGTT 0.453000 21 66 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50214261 50214261 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:50214261G>A ENST00000002829.3 + 7 1094 c.610G>A c.(610-612)Gat>Aat p.D204N SEMA3F_ENST00000413852.1_Missense_Mutation_p.D105N|SEMA3F_ENST00000434342.1_Missense_Mutation_p.D173N NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 204 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GTGTCCGTACGATCCCAAGCT 0.607000 4 68 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43043175 43043175 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43043175G>A ENST00000316099.3 + 5 610 c.521G>A c.(520-522)gGc>gAc p.G174D HNF4A_ENST00000415691.1_Missense_Mutation_p.G174D|HNF4A_ENST00000457232.1_Missense_Mutation_p.G152D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G174D NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 174 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGGATCAACGGCGACATTCGG 0.577000 5 46 0 0 1 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87151753 87151753 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:87151753G>A ENST00000285393.3 + 3 512 c.370G>A c.(370-372)Gaa>Aaa p.E124K CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 124 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding p.E124K(1)|p.E124*(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 ATCTGTGAAAGAAATTCTGGG 0.428000 5 90 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304079 53304079 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53304079G>A ENST00000438150.2 - 2 1753 c.860C>T c.(859-861)tCa>tTa p.S287L ZNF28_ENST00000360272.4_Missense_Mutation_p.S287L|ZNF28_ENST00000457749.2_Missense_Mutation_p.S340L|ZNF28_ENST00000414252.2_Missense_Mutation_p.S287L P17035 ZNF28_HUMAN zinc finger protein 28 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGCTAGGTATGAATTACATGT 0.368000 9 65 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47303981 47303981 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:47303981C>T ENST00000342922.4 + 9 1876 c.1519C>T c.(1519-1521)Cag>Tag p.Q507* MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Nonsense_Mutation_p.Q507*|MADD_ENST00000406482.1_Nonsense_Mutation_p.Q507*|MADD_ENST00000395336.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000395344.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000407859.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000349238.3_Nonsense_Mutation_p.Q507*|MADD_ENST00000402192.2_Nonsense_Mutation_p.Q507*|MADD_ENST00000402799.1_Nonsense_Mutation_p.Q507* NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 507 dDENN. 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) GCAGGGATTTCAGATGCACAC 0.552000 6 84 0 0 1 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297845 139297845 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:139297845C>T ENST00000406164.1 - 4 614 c.51G>A c.(49-51)ggG>ggA p.G17G NMNAT3_ENST00000339837.5_Silent_p.G17G|NMNAT3_ENST00000296202.7_Silent_p.G54G|NMNAT3_ENST00000413939.2_Intron|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000512391.1_Silent_p.G54G|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.G17G|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 54 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 GGTCTTTCTTCCCATAGGTGT 0.567000 6 29 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61318916 61318916 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:61318916G>A ENST00000263846.4 - 3 482 c.155C>T c.(154-156)tCc>tTc p.S52F SYT7_ENST00000535826.1_Missense_Mutation_p.S52F|SYT7_ENST00000539008.1_Missense_Mutation_p.S52F|SYT7_ENST00000540677.1_Missense_Mutation_p.S52F|SYT7_ENST00000542836.1_Missense_Mutation_p.S52F|SYT7_ENST00000542670.1_Missense_Mutation_p.S52F NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 52 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CGTCTCCAAGGAATTCTTGTA 0.592000 10 74 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121687675 121687675 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:121687675G>A ENST00000324774.5 - 13 2066 c.1238C>T c.(1237-1239)cCc>cTc p.P413L CAMKK2_ENST00000404169.3_Missense_Mutation_p.P413L|CAMKK2_ENST00000538733.1_Missense_Mutation_p.P413L|CAMKK2_ENST00000347034.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000402834.4_Missense_Mutation_p.P413L|CAMKK2_ENST00000446440.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000392474.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000545538.1_Missense_Mutation_p.P200L|CAMKK2_ENST00000412367.2_Missense_Mutation_p.P413L|CAMKK2_ENST00000337174.3_Missense_Mutation_p.P413L|CAMKK2_ENST00000392473.2_Missense_Mutation_p.P413L NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 413 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGCTATGTCGGGCCTGGGGAT 0.597000 13 80 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702221 43702221 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43702221C>T ENST00000405312.3 - 3 874 c.637G>A c.(637-639)Gga>Aga p.G213R PSG4_ENST00000244295.9_Missense_Mutation_p.G213R|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 213 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TCATAGGGTCCTGCAATATAC 0.507000 39 194 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720598 140720598 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140720598C>T ENST00000394576.2 + 1 2060 c.2060C>T c.(2059-2061)tCg>tTg p.S687L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAACGATTCGGACCTCACT 0.682000 15 150 0 0 1 0 0 SLAMF8 56833 broad.mit.edu 37 1 159804975 159804975 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:159804975G>A ENST00000289707.5 + 5 932 c.781_splice c.e5-1 p.G261_splice SLAMF8_ENST00000368104.4_Splice_Site_p.G152_splice|C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 261 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) CCTTACCAGGGAAAAAGAAAA 0.498000 8 39 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174370 112174370 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:112174370T>C ENST00000457016.1 + 16 3459 c.3079T>C c.(3079-3081)Tat>Cat p.Y1027H APC_ENST00000508376.2_Missense_Mutation_p.Y1027H|APC_ENST00000257430.4_Missense_Mutation_p.Y1027H|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1027 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. Y -> C (in colorectal tumor). canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.Y1027fs*2(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ACCAATAAATTATAGTCTTAA 0.368000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 9 55 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108182039 108182039 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108182039C>T ENST00000273353.3 - 17 1899 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 615 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ACCACTGTTTCATTAAGGAGG 0.383000 32 155 0 0 1 0 0 CCBE1 147372 broad.mit.edu 37 18 57103356 57103356 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:57103356G>A ENST00000439986.4 - 11 1042 c.1005C>T c.(1003-1005)ttC>ttT p.F335F CCBE1_ENST00000398179.2_Silent_p.F64F NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 335 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GCAGGAAGTCGAAAGAACCAG 0.542000 7 68 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176905401 176905401 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176905401C>T ENST00000367654.2 - 15 2520 c.e15+1 ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site O14525 ASTN1_HUMAN astrotactin 1 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 GCAGTGCTCACCCTGAGAGAT 0.537000 8 46 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838922 100838922 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:100838922G>A ENST00000369208.3 - 12 2398 c.1616C>T c.(1615-1617)cCt>cTt p.P539L SIM1_ENST00000262901.4_Missense_Mutation_p.P539L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 539 Single-minded C-terminal. 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) GGCCGACCCAGGGTCTGGAGA 0.433000 7 54 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48091493 48091493 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:48091493G>A ENST00000005386.3 - 4 419 c.304C>T c.(304-306)Ctt>Ttt p.L102F RPAP3_ENST00000380650.4_Missense_Mutation_p.L102F|RPAP3_ENST00000432584.3_5'UTR NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 102 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) AGCTCATCAAGGATACGGTCC 0.353000 4 65 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209659 140209659 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140209659G>A ENST00000529310.1 + 1 2097 c.1983G>A c.(1981-1983)gcG>gcA p.A661A PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGACAGCGACGGCCACGG 0.706000 7 89 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016578 38016578 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:38016578G>A ENST00000261439.4 + 3 1221 c.866G>A c.(865-867)cGa>cAa p.R289Q TBC1D1_ENST00000508802.1_Missense_Mutation_p.R289Q NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 289 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GAGGAAAATCGAACTATGCTC 0.483000 8 30 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081946 152081946 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152081946C>T ENST00000368804.1 - 2 3746 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1249 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGCCGGAACTGTTCATTCT 0.498000 9 76 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79689945 79689945 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:79689945A>C ENST00000261205.4 + 7 1228 c.571A>C c.(571-573)Aag>Cag p.K191Q SYT1_ENST00000393240.3_Missense_Mutation_p.K191Q|SYT1_ENST00000552744.1_Missense_Mutation_p.K191Q|SYT1_ENST00000457153.2_Missense_Mutation_p.K188Q NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 191 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 ACCTGATAAGAAGAAGAAATT 0.418000 6 30 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32724999 32724999 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:32724999G>A ENST00000421745.2 + 46 8988 c.8854G>A c.(8854-8856)Gat>Aat p.D2952N NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2952 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AAATACAACAGATAGTGTTTC 0.408000 9 87 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65475998 65475998 + Silent SNP C C T rs143166067 by1000genomes TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:65475998C>T ENST00000519389.1 + 17 3063 c.2884C>T c.(2884-2886)Ctg>Ttg p.L962L HEPH_ENST00000441993.2_Silent_p.L911L|HEPH_ENST00000343002.2_Silent_p.L908L|HEPH_ENST00000419594.1_Silent_p.L719L|HEPH_ENST00000374727.3_Silent_p.L911L|HEPH_ENST00000336279.5_Silent_p.L641L Q9BQS7 HEPH_HUMAN hephaestin 908 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AAAGGGCATCCTGGAGCCCCA 0.483000 13 33 0 0 1 0 0 RP9 6100 broad.mit.edu 37 7 33136927 33136927 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:33136927G>A ENST00000297157.3 - 4 378 c.361C>T c.(361-363)Cct>Tct p.P121S NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 121 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) ATAAAGAAAGGGCATTCTTTG 0.383000 6 40 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56358051 56358051 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:56358051G>A ENST00000340482.3 - 1 245 c.69C>T c.(67-69)ctC>ctT p.L23L MPO_ENST00000225275.3_Silent_p.L23L P05164 PERM_HUMAN myeloperoxidase 23 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TCTCTGCAGTGAGACCCCCAG 0.587000 7 56 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62854927 62854927 + Silent SNP C C T rs141234830 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:62854927C>T ENST00000584306.1 - 12 5309 c.4779G>A c.(4777-4779)acG>acA p.T1593T LRRC37A3_ENST00000319651.5_Silent_p.T1593T|LRRC37A3_ENST00000334962.5_Silent_p.T570T|LRRC37A3_ENST00000339474.5_Silent_p.T711T|LRRC37A3_ENST00000400877.3_Silent_p.T631T NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1593 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TAATCAAAATCGTTAGTATTC 0.353000 4 39 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111361 55111361 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55111361G>A ENST00000314721.2 + 1 735 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 229 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 TTACAGTCAGGAAGAGAGGCA 0.428000 5 70 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156907966 156907966 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156907966C>T ENST00000257527.4 - 23 2826 c.2748G>A c.(2746-2748)tcG>tcA p.S916S ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Silent_p.S918S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 0 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTAGATTTTCGAGCTAATCA 0.517000 8 39 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280897 105280897 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:105280897G>A ENST00000327674.4 - 1 488 c.153C>T c.(151-153)ttC>ttT p.F51F SERPINA7_ENST00000372563.1_Silent_p.F51F P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 51 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.F51L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTACAGATTGAATGCAAAGT 0.468000 23 95 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123540270 123540270 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:123540270G>T ENST00000422452.2 - 26 5115 c.5052C>A c.(5050-5052)gaC>gaA p.D1684E STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1677E NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCTTCTCCAGGTCACTGTGGA 0.468000 34 76 1.08052e-11 1.09382e-11 1 1 0 MYH1 4619 broad.mit.edu 37 17 10408334 10408334 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10408334C>T ENST00000226207.5 - 22 2578 c.2484G>A c.(2482-2484)gtG>gtA p.V828V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 828 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCCAGTGCTTCACATTCATGA 0.423000 8 46 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175538 207175538 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:207175538G>A ENST00000374423.3 + 5 6672 c.6286G>A c.(6286-6288)Gat>Aat p.D2096N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2096 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 AGGAGATAATGATGCTGATGG 0.443000 4 74 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6815988 6815988 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6815988G>A ENST00000332601.3 - 1 1140 c.952C>T c.(952-954)Cct>Tct p.P318S NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTGGGGTCAGGATCCTGGTGC 0.443000 11 63 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 97028545 97028545 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:97028545G>A ENST00000329399.6 - 3 431 c.323C>T c.(322-324)tCt>tTt p.S108F PDLIM1_ENST00000477757.1_5'UTR NM_020992.2 NP_066272.1 O00151 PDLI1_HUMAN PDZ and LIM domain 1 108 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CTGGGGTTCAGAGGCTAAATT 0.498000 6 79 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183883995 183883995 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:183883995T>G ENST00000313143.3 + 8 1093 c.845T>G c.(844-846)aTg>aGg p.M282R DVL3_ENST00000431765.1_Missense_Mutation_p.M282R|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 282 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity p.M282T(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) GGCTCTATCATGAAGGGTGGG 0.512000 19 80 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964653 119964653 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:119964653G>A ENST00000543831.1 + 4 778 c.529G>A c.(529-531)Gat>Aat p.D177N HSD3B2_ENST00000369416.3_Missense_Mutation_p.D177N NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 177 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) AAAAAATGGTGATACCTTGTA 0.478000 9 84 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753850 123753850 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123753850G>A ENST00000375026.2 - 4 889 c.673C>T c.(673-675)Ctg>Ttg p.L225L NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 225 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 CCAAATCACAGAGCCCAGGTT 0.428000 11 75 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20329728 20329728 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20329728C>A ENST00000302555.5 - 7 1181 c.1032G>T c.(1030-1032)ggG>ggT p.G344G GP2_ENST00000381360.5_Silent_p.G200G|GP2_ENST00000381362.4_Silent_p.G347G|GP2_ENST00000341642.5_Silent_p.G197G|GP2_ENST00000573897.1_5'UTR P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 347 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACTCTCCATTCCCGTCCACAC 0.473000 8 150 0.000442599 0.000444838 1 1 0 CD84 8832 broad.mit.edu 37 1 160535504 160535504 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:160535504G>A ENST00000368054.3 - 2 113 c.78C>T c.(76-78)atC>atT p.I26I CD84_ENST00000368048.3_Silent_p.I26I|CD84_ENST00000311224.4_Silent_p.I26I|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.I26I NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 26 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) TCACTGTGAAGATTTCTGAGT 0.418000 4 16 0 0 1 0 0 RIPK1 8737 broad.mit.edu 37 6 3085639 3085639 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:3085639C>T ENST00000259808.4 + 6 1133 c.835C>T c.(835-837)Cct>Tct p.P279S RIPK1_ENST00000541791.1_Missense_Mutation_p.P233S|RIPK1_ENST00000380409.2_Missense_Mutation_p.P279S|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 279 Protein kinase. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCCGACATTTCCTGGTAAGAG 0.458000 6 31 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133051 119133051 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:119133051C>T ENST00000264245.4 + 12 2807 c.2275C>T c.(2275-2277)Cct>Tct p.P759S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 759 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GGAAATAGTTCCTTTTGAGAA 0.602000 22 75 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201185664 201185664 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:201185664G>A ENST00000335211.4 + 16 9508 c.9378G>A c.(9376-9378)agG>agA p.R3126R IGFN1_ENST00000295591.8_Silent_p.R286R NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGCCCCCAAGGGACAATGGGG 0.662000 3 18 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120965527 120965527 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:120965527T>A ENST00000361301.2 + 1 107 c.58T>A c.(58-60)Tcc>Acc p.S20T NM_016087.2 NP_057171.2 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 0 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) TCAAAAGACCTCCCTATGGTG 0.453000 14 60 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691205 31691205 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31691205C>T ENST00000375809.3 + 1 56 c.45C>T c.(43-45)gcC>gcT p.A15A C6orf25_ENST00000375810.4_Silent_p.A15A|C6orf25_ENST00000375805.2_Silent_p.A15A|C6orf25_ENST00000480039.1_Silent_p.A15A NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 15 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TCTCGAGGGCCCAAGGGAACC 0.612000 6 23 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39696922 39696922 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:39696922C>T ENST00000395670.3 - 35 4998 c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K KIF21A_ENST00000361418.5_Missense_Mutation_p.E1526K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E1513K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E1489K|KIF21A_ENST00000541463.2_Missense_Mutation_p.E1473K Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1526 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AGAGCTCCTTCTGTAACATCA 0.383000 9 42 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307541 46307541 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:46307541C>T ENST00000221538.3 - 3 1764 c.1622G>A c.(1621-1623)tGg>tAg p.W541* RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.W277*|RSPH6A_ENST00000597055.1_Nonsense_Mutation_p.W541* NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 541 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTGATGCACCCAGTTGGCCAT 0.647000 7 47 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122755703 122755703 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:122755703C>T ENST00000194130.2 - 15 1696 c.1657G>A c.(1657-1659)Gct>Act p.A553T SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 553 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CCAAGTCCAGCTTTAACCTTG 0.423000 17 42 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780767 94780767 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94780767G>A ENST00000341584.3 - 2 365 c.219C>T c.(217-219)gcC>gcT p.A73A NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 73 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GCATAGCTAAGGCCATGGAGA 0.547000 4 52 0 0 1 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923066 43923066 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:43923066C>T ENST00000329196.5 + 1 811 c.794C>T c.(793-795)tCg>tTg p.S265L MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 265 integral to membrane aspartic-type endopeptidase activity CTGTCCTGCTCGCTCATGCTG 0.562000 12 101 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170858236 170858236 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:170858236C>T ENST00000436636.2 - 13 1628 c.1284G>A c.(1282-1284)gaG>gaA p.E428E TNIK_ENST00000538048.1_Silent_p.E428E|TNIK_ENST00000369326.5_Silent_p.E428E|TNIK_ENST00000341852.6_Silent_p.E428E|TNIK_ENST00000488470.1_Silent_p.E428E|TNIK_ENST00000284483.8_Silent_p.E428E|TNIK_ENST00000475336.1_Silent_p.E428E|TNIK_ENST00000470834.1_Silent_p.E428E|TNIK_ENST00000460047.1_Silent_p.E428E|TNIK_ENST00000357327.5_Silent_p.E428E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 428 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GCATCTGCTCCTCATAGTGCC 0.647000 31 222 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10355560 10355560 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10355560C>T ENST00000255381.2 - 27 3546 c.3436G>A c.(3436-3438)Gag>Aag p.E1146K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1146 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TCCTCCAGCTCCCGGGAGAGG 0.597000 12 102 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720723 135720723 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:135720723C>T ENST00000264977.3 + 2 1000 c.383C>T c.(382-384)tCc>tTc p.S128F 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 128 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 AAAGAATTTTCCTTTGAAAAA 0.378000 6 50 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128515 152128515 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152128515G>A ENST00000316073.3 - 3 1124 c.1060C>T c.(1060-1062)Cat>Tat p.H354Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 354 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGATCATAATGATAACACTGG 0.488000 144 623 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216964685 216964685 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:216964685C>T ENST00000454545.1 + 4 640 c.314C>T c.(313-315)aCt>aTt p.T105I TMEM169_ENST00000406027.2_Missense_Mutation_p.T105I|TMEM169_ENST00000295658.4_Missense_Mutation_p.T105I|TMEM169_ENST00000437356.2_Missense_Mutation_p.T105I NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 105 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCACCTTAACTGGGACCATC 0.498000 15 134 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44284563 44284563 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:44284563C>T ENST00000315087.7 - 2 856 c.196G>A c.(196-198)Gaa>Aaa p.E66K ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E102K|ST8SIA5_ENST00000590497.1_5'UTR NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 66 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TCCAATATTTCGTGCCTCAGC 0.522000 41 181 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120021885 120021885 + Silent SNP G G A rs150476989 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:120021885G>A ENST00000379551.2 + 3 684 c.327G>A c.(325-327)gtG>gtA p.V109V PRR16_ENST00000446965.1_Silent_p.V62V|PRR16_ENST00000407149.2_Silent_p.V132V|PRR16_ENST00000505123.1_Silent_p.V62V NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 132 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TGACACCTGTGAAGTGTGAAG 0.512000 7 63 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106552850 106552850 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:106552850C>T ENST00000369096.4 + 5 1049 c.815C>T c.(814-816)tCa>tTa p.S272L PRDM1_ENST00000369091.2_Missense_Mutation_p.S236L|PRDM1_ENST00000369089.3_Missense_Mutation_p.S138L NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 272 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TCTAACATTTCACCCCTCACA 0.512000 """D, N, Mis, F, S""" DLBCL 57 333 0 0 1 0 0 TMEM180 79847 broad.mit.edu 37 10 104230724 104230724 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:104230724A>T ENST00000238936.4 + 5 791 c.554A>T c.(553-555)aAc>aTc p.N185I TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 185 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCCTTTTGGAACAAGGAGGAT 0.617000 15 124 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242794829 242794829 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242794829G>A ENST00000334409.5 - 2 449 c.380C>T c.(379-381)tCc>tTc p.S127F NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 127 Ig-like V-type. apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0219) GGGGGCCAGGGAGATGGCCCC 0.682000 6 43 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105819914 105819914 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:105819914C>T ENST00000353479.5 - 14 1394 c.1104G>A c.(1102-1104)ggG>ggA p.G368G COL17A1_ENST00000393211.3_Silent_p.G368G|COL17A1_ENST00000369733.3_Silent_p.G368G NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 368 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TAAAGACCTTCCCGCTGTCCT 0.507000 17 53 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724482 7724482 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:7724482C>T ENST00000303635.7 + 9 2082 c.1875C>T c.(1873-1875)ctC>ctT p.L625L CAMTA1_ENST00000439411.2_Silent_p.L625L NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 625 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCAAACCCCTCCCCGTCGAGC 0.637000 T WWTR1 epitheliod hemangioendothelioma 65 242 0 0 1 0 0 TULP2 7288 broad.mit.edu 37 19 49398326 49398326 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49398326G>A ENST00000221399.3 - 6 587 c.443C>T c.(442-444)tCc>tTc p.S148F NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 148 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GGGAGAGACGGAACCATTCTC 0.527000 10 39 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15614285 15614285 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:15614285G>A ENST00000378076.3 - 25 2915 c.2562C>T c.(2560-2562)ctC>ctT p.L854L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 854 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 GGAAAATATAGAGAAGAAATT 0.453000 12 71 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546159 11546159 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:11546159C>T ENST00000389362.4 - 3 888 c.853G>A c.(853-855)Gga>Aga p.G285R PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGTGGTCCTTGTGGCTTT 0.617000 25 332 0 0 1 0 0 MEX3A 92312 broad.mit.edu 37 1 156047354 156047354 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:156047354C>T ENST00000532414.2 - 2 573 c.574G>A c.(574-576)Gaa>Aaa p.E192K MEX3A_ENST00000442784.1_5'UTR NM_001093725.1 NP_001087194.1 A1L020 MEX3A_HUMAN mex-3 RNA binding family member A 192 KH 1. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 Hepatocellular(266;0.158)|all_neural(408;0.195) GAGATGATTTCCCGCCGGGCT 0.637000 3 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401548 34401548 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34401548G>A ENST00000373381.4 - 4 701 c.525C>T c.(523-525)ccC>ccT p.P175P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 135 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGTGTGGCTGGGGAGAACTG 0.597000 14 69 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239925 5239925 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:5239925G>A ENST00000274181.7 + 16 2548 c.2410G>A c.(2410-2412)Gac>Aac p.D804N NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 804 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTGGACCGTGGACTGGCCCGG 0.522000 8 80 0 0 1 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18602573 18602573 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:18602573G>A ENST00000546162.2 + 0 1147 NR_003569.1 TCCTCCTGGGGACCCTCAGCC 0.592000 10 48 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100623647 100623647 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:100623647C>T ENST00000317233.4 - 5 685 c.450G>A c.(448-450)aaG>aaA p.K150K AFF3_ENST00000409579.1_Silent_p.K175K|AFF3_ENST00000409236.1_Silent_p.K150K|AFF3_ENST00000356421.2_Silent_p.K175K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 150 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 GGTGCCCAGCCTTCTGCCAGC 0.537000 4 62 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62197148 62197148 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62197148G>A ENST00000467148.1 - 8 3096 c.3027C>T c.(3025-3027)tcC>tcT p.S1009S HELZ2_ENST00000427522.2_Silent_p.S440S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGATGTCACGGGATGCTGGGC 0.682000 5 27 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27456009 27456009 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:27456009C>T ENST00000316403.10 - 8 1713 c.1308G>A c.(1306-1308)gaG>gaA p.E436E CLU_ENST00000523500.1_Silent_p.E436E|CLU_ENST00000546343.1_Silent_p.E447E|CLU_ENST00000560366.1_Silent_p.E488E|CLU_ENST00000405140.3_Silent_p.E436E P10909 CLUS_HUMAN clusterin 436 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GCAGCGCTTTCTCCGCCACGG 0.552000 9 63 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79225240 79225240 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:79225240G>A ENST00000288439.5 - 14 2463 c.2118C>T c.(2116-2118)ccC>ccT p.P706P SLC38A10_ENST00000374759.3_Intron NM_138570.2 NP_612637.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 488 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) GCTGGGGGAGGGGGCTGCCGC 0.716000 3 28 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39552694 39552694 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:39552694C>T ENST00000287152.7 - 9 1151 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K KIF6_ENST00000373213.4_Missense_Mutation_p.E192K|KIF6_ENST00000373216.3_Missense_Mutation_p.E353K|KIF6_ENST00000373215.3_Missense_Mutation_p.E353K|KIF6_ENST00000538893.1_Missense_Mutation_p.E353K NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 353 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTAATTTCTTCATTAAGAACA 0.313000 14 102 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76045900 76045900 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:76045900C>T ENST00000335749.4 + 3 1326 c.757C>T c.(757-759)Cca>Tca p.P253S TNRC6C_ENST00000588847.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P253S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.P253S|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P253S NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 253 Gly-rich.|Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGACTGTCCCCAGGTAACCC 0.507000 7 79 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53074095 53074095 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:53074095G>A ENST00000276480.7 - 14 2117 c.1434C>T c.(1432-1434)ttC>ttT p.F478F NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 478 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTTGTGACGGGAAATTGAATT 0.423000 16 69 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117035910 117035910 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:117035910C>T ENST00000371876.1 - 5 3635 c.e5-1 KLHL13_ENST00000539496.1_Splice_Site|KLHL13_ENST00000371882.1_Splice_Site|KLHL13_ENST00000545703.1_Splice_Site|KLHL13_ENST00000371878.1_Splice_Site|KLHL13_ENST00000541812.1_Splice_Site|KLHL13_ENST00000262820.3_Splice_Site|KLHL13_ENST00000540167.1_Splice_Site|KLHL13_ENST00000469946.1_Splice_Site Q9P2N7 KLH13_HUMAN kelch-like family member 13 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCTACTGTGGCTGTTAAAAAA 0.323000 22 29 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242119 18242119 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:18242119G>A ENST00000377369.2 + 2 187 c.e2-1 SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Splice_Site NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CTTTACCACAGAAATTCCTTT 0.433000 6 30 0 0 1 0 0 APOA1 335 broad.mit.edu 37 11 116706542 116706542 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:116706542C>T ENST00000236850.4 - 4 1151 c.786G>A c.(784-786)aaG>aaA p.K262K APOA1_ENST00000375320.1_Silent_p.K262K|APOA1_ENST00000375329.2_Silent_p.K240K|APOA1_ENST00000359492.2_Silent_p.K262K|APOA1_ENST00000375323.1_Silent_p.K262K NM_000039.1 NP_000030.1 P02647 APOA1_HUMAN apolipoprotein A-I 262 10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TGTTGAGCTTCTTAGTGTACT 0.597000 19 71 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890333 55890333 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55890333C>T ENST00000313472.3 + 1 485 c.485C>T c.(484-486)tCc>tTc p.S162F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S162Y(1)|p.S162F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AATGTGGTTTCCATGAGCAGA 0.438000 21 119 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684707 108684707 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:108684707C>T ENST00000218006.2 - 7 1865 c.1574G>A c.(1573-1575)gGa>gAa p.G525E NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 525 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GGCACGACTTCCTCTCTGTGA 0.408000 49 155 0 0 1 0 0 TMEM56 148534 broad.mit.edu 37 1 95609539 95609539 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:95609539T>C ENST00000370203.4 + 2 373 c.82T>C c.(82-84)Tac>Cac p.Y28H RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.Y28H|TMEM56_ENST00000463375.1_3'UTR NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 28 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CTTTGTAAGTTACTGGTTTTC 0.348000 8 41 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30510802 30510802 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:30510802C>T ENST00000375938.4 + 8 863 c.610C>T c.(610-612)Ccc>Tcc p.P204S TTLL9_ENST00000535842.1_Missense_Mutation_p.P204S|TTLL9_ENST00000375922.4_Missense_Mutation_p.P131S|TTLL9_ENST00000310998.4_Missense_Mutation_p.P154S|TTLL9_ENST00000375934.4_Missense_Mutation_p.P186S|TTLL9_ENST00000375921.2_Missense_Mutation_p.P131S Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 204 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGATGATATTCCCGTGGAGAA 0.398000 17 62 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115576208 115576208 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:115576208C>T ENST00000371900.4 + 6 867 c.779C>T c.(778-780)tCg>tTg p.S260L NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 260 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) GGAATCAAATCGTCTGGCAAG 0.363000 11 44 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182025598 182025598 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:182025598G>A ENST00000339948.3 - 2 1755 c.1548C>T c.(1546-1548)gcC>gcT p.A516A NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CCAACTCAGAGGCAATGCGGA 0.617000 6 19 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054975 29054975 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29054975G>A ENST00000377173.2 - 1 115 c.51C>T c.(49-51)ttC>ttT p.F17F NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CCCTATCTGAGAAGCCAAGTA 0.393000 8 66 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74328096 74328096 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:74328096C>T ENST00000268059.6 + 8 2390 c.2294C>T c.(2293-2295)tCc>tTc p.S765F PML_ENST00000569965.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S717F|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron NM_033239.2|NM_033244.3 NP_150242.1|NP_150247.2 P29590 PML_HUMAN promyelocytic leukemia 0 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 GACATGTCTTCCGTGGTGGGG 0.607000 T """RARA, PAX5""" """APL, ALL""" 9 97 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134262 119134262 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:119134262C>T ENST00000264245.4 + 12 4018 c.3486C>T c.(3484-3486)ccC>ccT p.P1162P NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1162 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 CCCAGGACCCCCAGGACCTGG 0.547000 13 44 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5744379 5744379 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:5744379G>A ENST00000546188.1 - 17 1829 c.1758C>T c.(1756-1758)ctC>ctT p.L586L ANO2_ENST00000327087.8_Silent_p.L585L|ANO2_ENST00000356134.5_Silent_p.L586L Q9NQ90 ANO2_HUMAN anoctamin 2 590 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGATGACCACGAGGTTGATGA 0.532000 7 18 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41063193 41063193 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:41063193G>A ENST00000352632.3 + 26 5640 c.5554G>A c.(5554-5556)Gag>Aag p.E1852K SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1852K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E528K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E595K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1852K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1852K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1852 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACAGATTGAGGAGAAGCGGAG 0.647000 5 67 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48808564 48808564 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:48808564C>T ENST00000309835.3 + 1 802 c.792C>T c.(790-792)ccC>ccT p.P264P STON1-GTF2A1L_ENST00000394751.3_Silent_p.P264P|STON1_ENST00000406226.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P264P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P264P|STON1_ENST00000404752.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P264P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P264P stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCTTTGTCCCCCACACACTCT 0.453000 6 49 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45857994 45857994 + Nonsense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:45857994A>C ENST00000391945.4 - 17 1736 c.1659T>G c.(1657-1659)taT>taG p.Y553* ERCC2_ENST00000391944.3_Nonsense_Mutation_p.Y475* NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 553 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GTACCTGCTCATACCAGGAGG 0.597000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 90 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124386996 124386996 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:124386996G>A ENST00000303921.2 - 2 2075 c.1425C>T c.(1423-1425)gcC>gcT p.A475A NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 475 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CTCGGGTACAGGCTTTCTCTG 0.443000 7 75 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32983440 32983440 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:32983440C>T ENST00000317907.4 + 13 1765 c.1534C>T c.(1534-1536)Cat>Tat p.H512Y NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 512 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 CCTCGGAGACCATTCTTGCTA 0.478000 9 110 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115216657 115216657 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115216657G>A ENST00000369538.3 - 13 1981 c.1934C>T c.(1933-1935)gCc>gTc p.A645V AMPD1_ENST00000520113.2_Missense_Mutation_p.A649V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A616V NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 616 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TGGTGACATGGCGATGGGAAT 0.348000 8 65 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44249922 44249922 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:44249922G>A ENST00000371505.4 - 4 1343 c.1221C>T c.(1219-1221)gcC>gcT p.A407A TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 407 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAGGAGTGTGGCGGTGGGCT 0.602000 6 67 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50943284 50943284 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:50943284C>T ENST00000216080.5 - 10 1477 c.1309G>A c.(1309-1311)Ggt>Agt p.G437S LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Missense_Mutation_p.G462S Q9BU23 LMF2_HUMAN lipase maturation factor 2 462 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGCCGTCCACCAAGCCCAGTC 0.711000 5 20 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130840207 130840207 + Nonsense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:130840207A>T ENST00000245255.3 + 12 1671 c.1399A>T c.(1399-1401)Aaa>Taa p.K467* NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 467 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CCAAGGTGGAAAAACAGTAAG 0.458000 9 81 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180030262 180030262 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:180030262G>A ENST00000261937.6 - 30 4100 c.4022C>T c.(4021-4023)tCg>tTg p.S1341L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 0 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCTTGGCTCCGACAGCTCCCC 0.642000 3 28 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40710585 40710585 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:40710585G>A ENST00000373198.3 - 31 4510 c.4275C>T c.(4273-4275)atC>atT p.I1425I PTPRT_ENST00000373190.1_Silent_p.I1402I|PTPRT_ENST00000373193.3_Silent_p.I1406I|PTPRT_ENST00000373187.1_Silent_p.I1403I|PTPRT_ENST00000373184.1_Silent_p.I1413I|PTPRT_ENST00000356100.2_Silent_p.I1412I|PTPRT_ENST00000373201.1_Silent_p.I1393I NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1403 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACACGTCAATGATGTTTTGCT 0.502000 13 79 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626125 140626125 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140626125C>T ENST00000231173.3 + 1 979 c.979C>T c.(979-981)Ctt>Ttt p.L327F NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 327 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCGGGGGACTTTCTGGAAA 0.413000 12 130 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117699245 117699245 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:117699245G>A ENST00000369458.3 - 3 474 c.396C>T c.(394-396)atC>atT p.I132I VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Silent_p.I37I|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000359008.4_Silent_p.I135I NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 132 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TAGAAGTGATGATATAACATT 0.428000 4 74 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762252 130762252 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:130762252G>A ENST00000392429.1 + 2 3063 c.685G>A c.(685-687)Gat>Aat p.D229N TMEM200A_ENST00000545622.1_Missense_Mutation_p.D229N|TMEM200A_ENST00000296978.3_Missense_Mutation_p.D229N NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 229 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CGTGGAGGAGGATGAACTTAT 0.502000 6 39 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345656 92345656 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:92345656C>T ENST00000377067.3 + 3 913 c.541C>T c.(541-543)Cct>Tct p.P181S NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 181 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CCTCATTAACCCTGGTGTGAC 0.443000 15 93 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 130008366 130008366 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:130008366C>T ENST00000431780.2 + 11 1599 c.1154C>T c.(1153-1155)tCa>tTa p.S385L CPA5_ENST00000461828.1_Silent_p.I413I|CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000485477.1_Silent_p.I413I|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000393213.3_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I NM_001127442.1 NP_001120914.1 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 0 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CCACACAGATCATCCCCACGG 0.607000 20 106 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883439 228883439 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228883439G>A ENST00000392056.3 - 7 2177 c.2131C>T c.(2131-2133)Caa>Taa p.Q711* SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Q711* NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 711 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) AAAAGCAGTTGATTTGTACTT 0.398000 12 141 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45731474 45731474 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:45731474G>A ENST00000413988.1 - 3 181 c.141C>T c.(139-141)caC>caT p.H47H EXOC3L2_ENST00000252482.3_Silent_p.H47H NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 47 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GGCTCCCCCAGTGCTCTTCGT 0.667000 21 118 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298729 125298729 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:125298729G>A ENST00000538699.1 - 2 1259 c.1179C>T c.(1177-1179)tcC>tcT p.S393S DCAF12L2_ENST00000360028.2_Silent_p.S393S NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 393 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 GCCCCGGCATGGAGTCCAGGC 0.607000 12 117 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108220569 108220569 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108220569C>T ENST00000273353.3 - 4 445 c.389G>A c.(388-390)tGg>tAg p.W130* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 130 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATAGATCATCCACTGGCCATA 0.458000 15 38 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553446 140553446 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140553446C>T ENST00000231137.3 + 1 1204 c.1030C>T c.(1030-1032)Cga>Tga p.R344* NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 344 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACGATAATCGACCCGAGCT 0.458000 4 25 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39492447 39492447 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:39492447A>G ENST00000263881.3 - 28 2357 c.2032_splice c.e28-1 p.V678_splice MAP4K3_ENST00000437545.1_Splice_Site_p.V594_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.V657_splice|MAP4K3_ENST00000536018.1_Splice_Site_p.V231_splice NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 678 CNH. 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) AGGATTTCTTACTGTCAAAGC 0.303000 9 72 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152708303 152708303 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:152708303G>A ENST00000367255.5 - 54 8992 c.8391C>T c.(8389-8391)tcC>tcT p.S2797S SYNE1_ENST00000265368.4_Silent_p.S2797S|SYNE1_ENST00000423061.1_Silent_p.S2804S|SYNE1_ENST00000448038.1_Silent_p.S2804S|SYNE1_ENST00000341594.5_Silent_p.S2836S NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2797 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) AGAGCTCCCTGGACTTCGCAA 0.478000 HNSCC(10;0.0054) 9 102 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116935538 116935538 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:116935538T>C ENST00000537345.1 + 11 1758 c.1395T>C c.(1393-1395)ggT>ggC p.G465G ATP1A1_ENST00000295598.5_Silent_p.G465G|ATP1A1_ENST00000369496.4_Silent_p.G434G NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 465 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) TGTGCTGTGGTTCCGTGAAGG 0.483000 26 72 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611493 17611493 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:17611493C>T ENST00000381869.3 - 2 2297 c.1824G>A c.(1822-1824)gtG>gtA p.V608V MTUS1_ENST00000262102.6_Silent_p.V608V|MTUS1_ENST00000519263.1_Silent_p.V608V|MTUS1_ENST00000381862.3_Silent_p.V608V NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 608 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle p.V608V(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GATTCGATTTCACGGCAGATG 0.433000 12 160 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61228387 61228387 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61228387G>A ENST00000382768.1 + 4 514 c.514G>A c.(514-516)Gaa>Aaa p.E172K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E152K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 152 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAAAAACCCTGAAAAATCCAG 0.373000 15 80 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107398974 107398974 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:107398974C>T ENST00000440859.2 + 6 1294 c.827C>T c.(826-828)tCg>tTg p.S276L CBLL1_ENST00000222597.2_Missense_Mutation_p.S275L|CBLL1_ENST00000415884.2_3'UTR NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 276 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CCACCTCGATCGGTCAGTCAG 0.463000 9 64 0 0 1 0 0 EMX1 2016 broad.mit.edu 37 2 73160976 73160976 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:73160976G>A ENST00000258106.6 + 3 1144 c.766G>A c.(766-768)Ggg>Agg p.G256R EMX1_ENST00000394111.5_3'UTR NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 GGAGGAGGAAGGGCCTGAGTC 0.582000 3 33 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081232 152081232 + Silent SNP G G A rs71585886 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152081232G>A ENST00000368804.1 - 2 4460 c.4461C>T c.(4459-4461)ttC>ttT p.F1487F NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1487 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCTCCAGGAATTTTCTGT 0.557000 16 154 0 0 1 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659416 43659416 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:43659416C>T ENST00000374466.3 + 5 1418 c.1083C>T c.(1081-1083)gtC>gtT p.V361V NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 361 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGGGAGAGGTCTTGATGTTTT 0.428000 7 48 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28270426 28270426 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:28270426G>A ENST00000305242.5 - 7 997 c.905C>T c.(904-906)tCa>tTa p.S302L ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S159L|ARMC4_ENST00000537576.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 302 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 AAATTTTGGTGATTTTTCTCT 0.294000 15 48 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37319396 37319396 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:37319396C>T ENST00000262825.5 + 3 404 c.187C>T c.(187-189)Cgc>Tgc p.R63C CSF2RB_ENST00000403662.3_Missense_Mutation_p.R63C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R63C NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 63 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GACCCTCATTCGCCGGGTGAA 0.652000 5 34 0 0 1 0 0 HIST1H3J 8356 broad.mit.edu 37 6 27858564 27858564 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:27858564G>A ENST00000359303.2 - 1 6 c.7C>T c.(7-9)Cgg>Tgg p.R3W HIST1H3J_ENST00000479986.1_5'UTR NM_003535.2 NP_003526.1 P68431 H31_HUMAN histone cluster 1, H3j 3 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 TGCTTCGTCCGGGCCATAGTT 0.557000 5 44 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871804 23871804 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:23871804C>T ENST00000354639.3 + 24 3274 c.2810C>T c.(2809-2811)tCa>tTa p.S937L STK31_ENST00000428484.1_Missense_Mutation_p.S937L|STK31_ENST00000433467.2_Missense_Mutation_p.S937L|STK31_ENST00000355870.3_Missense_Mutation_p.S960L|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 960 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TATAGAAGTTCAATGACTGCT 0.358000 8 38 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43850481 43850481 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43850481C>T ENST00000372769.3 + 2 298 c.208C>T c.(208-210)Cat>Tat p.H70Y NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 70 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ACACACATATCATGTAGACAT 0.388000 13 82 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71056364 71056364 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71056364C>T ENST00000283228.2 - 11 1971 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K PTPRR_ENST00000549308.1_Missense_Mutation_p.E262K|PTPRR_ENST00000342084.4_Missense_Mutation_p.E395K|PTPRR_ENST00000440835.2_Missense_Mutation_p.E262K|PTPRR_ENST00000378778.1_Missense_Mutation_p.E301K|PTPRR_ENST00000537619.2_5'UTR NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 507 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) CCTCTCTTTTCCGGCCAGTAT 0.368000 5 29 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 70014163 70014163 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:70014163G>A ENST00000352241.4 + 10 1490 c.1327G>A c.(1327-1329)Gat>Aat p.D443N MITF_ENST00000314589.5_Missense_Mutation_p.D427N|MITF_ENST00000531774.1_Missense_Mutation_p.D280N|MITF_ENST00000394351.3_Missense_Mutation_p.D342N|MITF_ENST00000328528.6_Missense_Mutation_p.D442N|MITF_ENST00000472437.1_Missense_Mutation_p.D391N|MITF_ENST00000448226.2_Missense_Mutation_p.D449N|MITF_ENST00000314557.6_Missense_Mutation_p.D336N|MITF_ENST00000394355.2_Missense_Mutation_p.D418N NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 449 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) AACAACTCTCGATCTCACGGA 0.493000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 8 66 0 0 1 0 0 ANKRD45 339416 broad.mit.edu 37 1 173616058 173616058 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173616058G>A ENST00000333279.2 - 3 483 c.423C>T c.(421-423)ttC>ttT p.F141F NM_198493.2 NP_940895.1 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 157 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TTTCTTCCCGGAAGTTCAAAG 0.468000 7 100 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64519507 64519507 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:64519507C>T ENST00000164139.3 - 14 2055 c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K PYGM_ENST00000377432.3_Missense_Mutation_p.E465K NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 553 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) ACTTTGTATTCCCTCTCTAGG 0.512000 17 122 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934117 44934117 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44934117A>T ENST00000291187.4 - 6 1143 c.821T>A c.(820-822)cTt>cAt p.L274H ZNF229_ENST00000588931.1_Missense_Mutation_p.L280H|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) ATGCGGGGGAAGGTCTGCATC 0.433000 4 37 0 0 1 0 0 SPRYD4 283377 broad.mit.edu 37 12 56863177 56863177 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56863177A>G ENST00000338146.5 + 2 515 c.440A>G c.(439-441)cAg>cGg p.Q147R NM_207344.3 NP_997227.1 Q8WW59 SPRY4_HUMAN SPRY domain containing 4 147 B30.2/SPRY. nucleus kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1) 7 GGTATTGGGCAGCCAGAGAAG 0.552000 6 76 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139833587 139833587 + Missense_Mutation SNP G G A rs148786367 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:139833587G>A ENST00000303045.6 - 7 1483 c.1037C>T c.(1036-1038)gCt>gTt p.A346V COL22A1_ENST00000435777.1_Missense_Mutation_p.A346V NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 346 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CACCCTGACAGCATCTTTCAT 0.577000 HNSCC(7;0.00092) 10 93 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236706463 236706463 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:236706463C>T ENST00000409538.1 + 7 2025 c.1529C>T c.(1528-1530)tCg>tTg p.S510L AGAP1_ENST00000336665.5_Missense_Mutation_p.S245L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S245L|AGAP1_ENST00000428334.2_Missense_Mutation_p.S84L|AGAP1_ENST00000304032.7_Missense_Mutation_p.S245L Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 245 PH. 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 CCCTGCAAGTCGCTACCTAAT 0.507000 31 142 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134690 128134690 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:128134690G>A ENST00000368250.1 - 5 1357 c.859C>T c.(859-861)Cac>Tac p.H287Y THEMIS_ENST00000368248.2_Missense_Mutation_p.H366Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.H366Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.H331Y Q8N1K5 THMS1_HUMAN thymocyte selection associated 366 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GCCACCACGTGAAGAGGCTCC 0.522000 16 71 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142498915 142498915 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142498915G>A ENST00000466254.1 + 0 191 AGCCCCTCAAGGAGCAGCCCG 0.647000 4 124 0 0 1 0 0 OR2B6 26212 broad.mit.edu 37 6 27925877 27925877 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:27925877C>T ENST00000244623.1 + 1 859 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CATGCTGAATCCCCTTATATA 0.418000 5 94 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711610 155711610 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:155711610G>A ENST00000295101.2 + 3 1768 c.1291G>A c.(1291-1293)Gga>Aga p.G431R NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 431 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) CTACAGCTTGGGAGACTTGCC 0.403000 14 84 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116206791 116206791 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:116206791C>T ENST00000355485.2 + 4 985 c.714C>T c.(712-714)atC>atT p.I238I VANGL1_ENST00000369510.3_Silent_p.I236I|VANGL1_ENST00000310260.3_Silent_p.I238I|VANGL1_ENST00000369509.1_Silent_p.I238I NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 238 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ACCTGGCCATCGTCCTGCTGG 0.597000 6 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433873 179433873 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179433873G>A ENST00000589042.1 - 326 77210 c.76986C>T c.(76984-76986)atC>atT p.I25662I TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I16597I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.I16722I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.I24021I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.I16789I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.I23094I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24021 Ig-like 125. 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) GGAGCTGATCGATTTTCCAAG 0.398000 17 153 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21394388 21394388 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:21394388C>T ENST00000313654.9 + 15 2051 c.1810C>T c.(1810-1812)Cat>Tat p.H604Y LAMA3_ENST00000399516.3_Missense_Mutation_p.H604Y NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 604 Domain V.|Laminin EGF-like 6. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGCAAGCTTCATGTTGAAGG 0.388000 8 60 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584581 138584581 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:138584581G>A ENST00000251691.4 + 12 2127 c.1961G>A c.(1960-1962)cGa>cAa p.R654Q NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 654 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.R583Q(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CGGTCCCTGCGAACTGCCGCC 0.617000 7 79 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129349038 129349038 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:129349038C>T ENST00000393232.1 + 6 847 c.730C>T c.(730-732)Cgg>Tgg p.R244W NRF1_ENST00000393230.2_Missense_Mutation_p.R244W|NRF1_ENST00000223190.4_Missense_Mutation_p.R244W|NRF1_ENST00000311967.2_Missense_Mutation_p.R244W|NRF1_ENST00000353868.4_Missense_Mutation_p.R244W|NRF1_ENST00000393231.3_Missense_Mutation_p.R244W|NRF1_ENST00000539636.1_Missense_Mutation_p.R83W NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 244 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 GGCAAATGTCCGGAGTGATGT 0.502000 15 197 0 0 1 0 0 IL6 3569 broad.mit.edu 37 7 22769135 22769135 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:22769135G>A ENST00000404625.1 + 5 786 c.327G>A c.(325-327)gaG>gaA p.E109E IL6_ENST00000401651.1_Silent_p.E33E|IL6_ENST00000258743.5_Silent_p.E109E|IL6_ENST00000406575.1_Silent_p.E109E|IL6_ENST00000407492.1_Silent_p.E33E|IL6_ENST00000401630.3_Silent_p.E86E|IL6_ENST00000420258.2_Silent_p.E163E P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 109 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) CCTCTTAGGAGACTTGCCTGG 0.428000 6 69 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59093111 59093111 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:59093111G>A ENST00000589222.1 + 16 1554 c.e16-1 BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCTCTTTGTAGGGAAACTGAA 0.438000 34 136 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53002075 53002075 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53002075C>T ENST00000305748.3 - 9 1562 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 510 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) GTCCTGGCTTCCCCACGGGGG 0.587000 4 86 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139796362 139796362 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139796362C>T ENST00000397560.2 - 17 2464 c.2367G>A c.(2365-2367)gtG>gtA p.V789V JHDM1D_ENST00000006967.5_Silent_p.V789V NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 789 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TACCACATTCCACTGGTTTAT 0.403000 5 77 0 0 1 0 0 NR1H4 9971 broad.mit.edu 37 12 100934521 100934521 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:100934521C>T ENST00000548884.1 + 9 1532 c.991C>T c.(991-993)Cgt>Tgt p.R331C NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C|NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 345 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 TATGTTCCTTCGTTCAGCTGA 0.388000 12 88 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93982115 93982115 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:93982115C>T ENST00000369303.4 - 6 1534 c.1350G>A c.(1348-1350)atG>atA p.M450I NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 450 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTCTCTCCTTCATTACTCCAC 0.438000 8 102 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48827944 48827944 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48827944G>A ENST00000505658.1 + 10 1410 c.1221G>A c.(1219-1221)tcG>tcA p.S407S LUC7L3_ENST00000544170.1_Silent_p.S331S|LUC7L3_ENST00000393227.2_Silent_p.S407S|LUC7L3_ENST00000240304.1_Silent_p.S407S O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 407 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 ACACTGAATCGAAGGAAAGTG 0.398000 19 103 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4674269 4674269 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4674269C>T ENST00000396952.5 + 2 1163 c.513C>T c.(511-513)ttC>ttT p.F171F OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCTGCCCTTCTGCCGCTCCA 0.537000 10 155 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328315 48328315 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48328315C>T ENST00000319988.1 + 1 541 c.541C>T c.(541-543)Ccc>Tcc p.P181S NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P181T(1) endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGATGTTCATCCCCTGCTCAA 0.488000 13 51 0 0 1 0 0 OR52R1 119695 broad.mit.edu 37 11 4825279 4825279 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4825279G>A ENST00000380382.1 - 1 568 c.569C>T c.(568-570)tCt>tTt p.S190F MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.S111F|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCACAGAAGAAAAGGCATG 0.527000 8 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088159 9088159 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9088159G>A ENST00000397910.4 - 1 3859 c.3656C>T c.(3655-3657)cCc>cTc p.P1219L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1219 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 AGTGTCCAAGGGAACCAGGGT 0.507000 47 220 0 0 1 0 0 MGARP 84709 broad.mit.edu 37 4 140187969 140187969 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:140187969C>T ENST00000398955.1 - 4 686 c.507G>A c.(505-507)acG>acA p.T169T NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 169 integral to membrane GGTTTACTTCCGTGGTTTCCC 0.532000 27 110 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73064582 73064582 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73064582C>T ENST00000429829.1 - 0 8006 NR_001564.2 TTATCAGCACCCCTGCTGTAC 0.493000 12 40 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158140822 158140822 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:158140822C>T ENST00000259056.4 + 2 1968 c.1483C>T c.(1483-1485)Ctc>Ttc p.L495F NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 495 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TCACAATAACCTCCCAACCAC 0.463000 8 85 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42891901 42891901 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:42891901G>A ENST00000342560.5 + 4 667 c.579G>A c.(577-579)atG>atA p.M193I GDAP1L1_ENST00000537864.1_Start_Codon_SNP_p.M1I NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 193 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGGACCTCATGAAACTGGACC 0.547000 38 298 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94278656 94278656 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:94278656C>T ENST00000358752.2 + 1 1640 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C RP11-867G2.8_ENST00000536540.1_RNA NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 453 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTTGTGCCCCGCGGCGCCTT 0.647000 6 67 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478251 79478251 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:79478251G>A ENST00000575842.1 - 3 1191 c.765C>T c.(763-765)ttC>ttT p.F255F ACTG1_ENST00000331925.2_Silent_p.F255F|ACTG1_ENST00000575087.1_Silent_p.F255F|ACTG1_ENST00000573283.1_Silent_p.F255F P63261 ACTG_HUMAN actin, gamma 1 255 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CCGGACACCGGAACCGCTCAT 0.567000 15 92 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68995569 68995569 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:68995569C>T ENST00000288368.4 + 18 2250 c.1973C>T c.(1972-1974)tCg>tTg p.S658L PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 658 PDZ 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCCTGAAATCGTGTTTAAAC 0.353000 8 41 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414461 74414461 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:74414461G>A ENST00000376332.3 - 8 1331 c.835C>T c.(835-837)Cta>Tta p.L279L CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.L279L NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 279 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CAGGTGCATAGGATGCAGGGC 0.642000 3 35 0 0 1 0 0 MAFA 389692 broad.mit.edu 37 8 144511643 144511643 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:144511643C>T ENST00000333480.2 - 1 933 c.934G>A c.(934-936)Gag>Aag p.E312K MAFA_ENST00000528185.1_Intron NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 312 insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) TCGTATTTCTCCTTGTACAGG 0.721000 HNSCC(29;0.082) 7 23 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925402 218925402 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:218925402C>T ENST00000439871.1 - 0 978 NR_002712.1 CCACATGGTCCAGTGCTTCTG 0.557000 6 70 0 0 1 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028429 142028429 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142028429C>T ENST00000390353.2 + 0 220 GTACTGGTATCGACAAGACCC 0.493000 51 116 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146684032 146684032 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:146684032T>G ENST00000254090.4 - 5 947 c.559A>C c.(559-561)Aga>Cga p.R187R FMO5_ENST00000441068.2_Silent_p.R187R|FMO5_ENST00000369272.3_Silent_p.R187R|FMO5_ENST00000465173.1_5'UTR NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 187 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) ATAATGACTCTCTTTCCAGTG 0.413000 17 88 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11186741 11186741 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:11186741G>A ENST00000361445.4 - 46 6540 c.6464C>T c.(6463-6465)tCc>tTc p.S2155F MTOR_ENST00000376838.1_Missense_Mutation_p.S360F NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2155 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CGGTGCTATGGACTGAATGCG 0.502000 14 70 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100626668 100626668 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:100626668C>T ENST00000308731.7 - 4 425 c.262G>A c.(262-264)Gaa>Aaa p.E88K BTK_ENST00000372880.1_Missense_Mutation_p.E88K NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 88 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TGCTCCATTTCACTGGACTCT 0.373000 Agammaglobulinemia, X-linked 24 69 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490295 42490295 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:42490295C>T ENST00000545399.1 - 5 636 c.483G>A c.(481-483)atG>atA p.M161I ATP1A3_ENST00000602133.1_Missense_Mutation_p.M118I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.M159I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.M148I NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 148 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGAAGGACTCCATGATCTTGG 0.622000 12 74 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123842555 123842555 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123842555G>A ENST00000369005.1 + 4 880 c.540G>A c.(538-540)aaG>aaA p.K180K TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K180K|TACC2_ENST00000334433.3_Silent_p.K180K|TACC2_ENST00000515273.1_Silent_p.K180K|TACC2_ENST00000515603.1_Silent_p.K180K NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 180 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GACAGCCGAAGGAAGAAGGAC 0.577000 5 19 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10035157 10035157 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:10035157G>A ENST00000378380.3 + 9 2411 c.2082G>A c.(2080-2082)aaG>aaA p.K694K ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.K694K NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 p.K694N(1) CAGAGGGAAAGAAAGTACAGA 0.343000 10 35 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156830137 156830137 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:156830137G>A ENST00000536354.2 + 5 466 c.402G>A c.(400-402)acG>acA p.T134T NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 134 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TTCTGGAGACGATGACAGCCT 0.433000 11 20 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067619 190067619 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:190067619C>T ENST00000367462.3 - 8 2061 c.1830G>A c.(1828-1830)tgG>tgA p.W610* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W508*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 610 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) GAGTTAATGTCCAGTTATAAC 0.468000 46 194 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94474306 94474306 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94474306C>T ENST00000370225.3 - 41 5922 c.e41+1 ABCA4_ENST00000536513.1_Splice_Site|ABCA4_ENST00000535881.1_Splice_Site|ABCA4_ENST00000465352.1_Splice_Site NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CATTCCCTTACCTTGGTTAGT 0.393000 8 196 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17417442 17417442 + Missense_Mutation SNP G G A rs144151196 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:17417442G>A ENST00000262545.2 + 8 1114 c.799G>A c.(799-801)Gcc>Acc p.A267T PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T|PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 267 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) CATCTACAGCGCCAGCTGGGG 0.617000 9 55 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156788589 156788589 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156788589C>T ENST00000347377.6 + 26 3453 c.3022C>T c.(3022-3024)Ctc>Ttc p.L1008F CYFIP2_ENST00000541131.1_Missense_Mutation_p.L933F|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L812F|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L982F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L1033F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.L707F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L1008F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1033 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTTCTGCCTCCTCATAGAGCA 0.552000 6 39 0 0 1 0 0 C1orf115 79762 broad.mit.edu 37 1 220869965 220869965 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:220869965G>A ENST00000294889.5 + 2 879 c.321G>A c.(319-321)aaG>aaA p.K107K NM_024709.4 NP_078985.3 Q9H7X2 CA115_HUMAN chromosome 1 open reading frame 115 107 integral to membrane large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0273) ATGTCGGGAAGGTCATCATCA 0.488000 6 100 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169792783 169792783 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:169792783C>T ENST00000263817.6 - 22 2895 c.2771G>A c.(2770-2772)gGa>gAa p.G924E NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 924 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AGAGGCAAATCCTGTCAACAT 0.493000 10 39 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45955566 45955566 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:45955566A>T ENST00000257821.4 - 18 2622 c.1999T>A c.(1999-2001)Tcc>Acc p.S667T PHF21A_ENST00000323180.6_Missense_Mutation_p.S620T|PHF21A_ENST00000418153.2_Missense_Mutation_p.S666T NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 666 Required for transcriptional repression. PSPSSQSCTANCNQGEETK -> LCSLPELHSEL (in Ref. 7). blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CAGCTCTGGGAGGAGGGGGAA 0.632000 4 52 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128270 6128270 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:6128270G>A ENST00000261405.5 - 28 4568 c.4314C>T c.(4312-4314)ttC>ttT p.F1438F NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1438 VWFA 1; binding site for platelet glycoprotein Ib. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGCTCAGCACGAAGGCCTTGT 0.592000 10 63 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153190596 153190596 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:153190596G>A ENST00000285900.5 + 16 2875 c.2532G>A c.(2530-2532)ttG>ttA p.L844L GRIA1_ENST00000448073.4_Silent_p.L854L|GRIA1_ENST00000518142.1_Silent_p.L764L|GRIA1_ENST00000518783.1_Silent_p.L854L|GRIA1_ENST00000521843.2_Silent_p.L775L|GRIA1_ENST00000340592.5_Silent_p.L844L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 844 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 p.L844L(1) 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) GTTTTTGTTTGATCCCACAGC 0.567000 12 53 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91549253 91549253 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:91549253C>T ENST00000509176.1 + 6 2090 c.1802C>T c.(1801-1803)cCa>cTa p.P601L CCSER1_ENST00000333691.8_Missense_Mutation_p.P601L|CCSER1_ENST00000432775.2_Missense_Mutation_p.P601L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 CCCAACAGTCCATCTGCGGAT 0.453000 6 39 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080360 115080360 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:115080360G>A ENST00000537058.1 - 8 1032 c.1012C>T c.(1012-1014)Cct>Tct p.P338S CADM1_ENST00000331581.6_Missense_Mutation_p.P338S|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.P338S Q9BY67 CADM1_HUMAN cell adhesion molecule 1 338 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) gtggGAGGAGGGATAGTTGTG 0.453000 4 49 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91947859 91947859 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:91947859G>A ENST00000375807.3 + 6 909 c.838G>A c.(838-840)Gta>Ata p.V280I SECISBP2_ENST00000534113.2_Missense_Mutation_p.V212I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.V207I NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 280 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 AAATGAATCTGTAACTGCTAA 0.318000 6 27 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163059452 163059452 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:163059452C>T ENST00000188790.4 - 14 1360 c.1152_splice c.e14-1 p.E385_splice FAP_ENST00000443424.1_Splice_Site_p.E360_splice NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 385 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 ATAGCATTTTCCTATAAAAAG 0.378000 9 65 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472340 2472340 + Silent SNP C C T rs150285273 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:2472340C>T ENST00000258711.6 + 2 201 c.66C>T c.(64-66)atC>atT p.I22I NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 22 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) TCCTGCTGATCATCGTGTACT 0.701000 14 74 0 0 1 0 0 KLRD1 3824 broad.mit.edu 37 12 10462028 10462028 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:10462028G>A ENST00000381908.3 + 2 309 c.49G>A c.(49-51)Ggg>Agg p.G17R KLRD1_ENST00000538997.1_Intron|KLRD1_ENST00000543777.1_Missense_Mutation_p.G17R|KLRD1_ENST00000543420.1_Missense_Mutation_p.G17R|KLRD1_ENST00000336164.4_Missense_Mutation_p.G17R|KLRD1_ENST00000381907.4_Missense_Mutation_p.G17R|KLRD1_ENST00000350274.5_Intron Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 17 cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 TGGGACCTTAGGGATAATATG 0.368000 6 46 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371293 48371293 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48371293C>T ENST00000395702.2 + 2 988 c.761C>T c.(760-762)tCc>tTc p.S254F ZNF488_ENST00000586537.1_Missense_Mutation_p.S147F|ZNF488_ENST00000494156.1_3'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCCTCATCATCCTCCACCACT 0.602000 4 45 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 168927049 168927049 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:168927049A>G ENST00000354536.5 + 3 500 c.280A>G c.(280-282)Agg>Ggg p.R94G SMOC2_ENST00000356284.2_Missense_Mutation_p.R94G NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 94 Thyroglobulin type-1 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TGTGGCCGAAAGGAAGTATAC 0.502000 9 61 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39907525 39907525 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:39907525C>T ENST00000425673.1 + 7 954 c.629C>T c.(628-630)cCg>cTg p.P210L PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P151L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P210L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.P210L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.P210L Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 210 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCGTTGTCTCCGCCAGCAGCC 0.652000 14 169 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132162218 132162218 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:132162218G>A ENST00000511190.1 - 6 500 c.31C>T c.(31-33)Caa>Taa p.Q11* USP26_ENST00000406273.1_Nonsense_Mutation_p.Q11*|USP26_ENST00000370832.1_Nonsense_Mutation_p.Q11* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 11 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TTCCCTATTTGGACAAAACCA 0.358000 7 24 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25718576 25718576 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:25718576C>T ENST00000520164.1 - 13 1868 c.1331G>A c.(1330-1332)gGa>gAa p.G444E EBF2_ENST00000408929.3_Missense_Mutation_p.G296E|EBF2_ENST00000535548.1_Missense_Mutation_p.G175E NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 444 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G444E(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGATTATTTCCTTGTGTTGA 0.473000 16 81 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143371182 143371182 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:143371182G>A ENST00000316549.6 - 6 878 c.670C>T c.(670-672)Cat>Tat p.H224Y NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 224 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TGCAGTTCATGGAAAATGGCC 0.468000 6 17 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32849444 32849444 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:32849444C>T ENST00000397452.1 - 3 281 c.171G>A c.(169-171)aaG>aaA p.K57K BPIFC_ENST00000397450.1_Silent_p.K57K|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Silent_p.K57K|BPIFC_ENST00000534972.1_5'UTR Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 57 extracellular region lipopolysaccharide binding|phospholipid binding CTGGGAGTTTCTTTTCTTTTA 0.318000 5 34 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138714533 138714533 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:138714533G>A ENST00000389532.4 - 11 2038 c.1974C>T c.(1972-1974)ttC>ttT p.F658F CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F669F|CAMSAP1_ENST00000312405.6_Silent_p.F380F NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 658 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGCCCATGGGGAATTCTGAGC 0.592000 5 20 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96139197 96139197 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:96139197A>T ENST00000296754.3 - 2 690 c.433T>A c.(433-435)Tac>Aac p.Y145N ERAP1_ENST00000443439.2_Missense_Mutation_p.Y145N NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 145 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) ACAACTGTGTACGGGAGCCCG 0.527000 13 60 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151161509 151161509 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:151161509G>A ENST00000282466.3 - 5 5225 c.5226C>T c.(5224-5226)tcC>tcT p.S1742S NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1742 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGGAGGATAGGAAACCACAG 0.522000 15 61 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024351 55024351 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:55024351C>T ENST00000324000.3 + 3 2544 c.510C>T c.(508-510)atC>atT p.I170I NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 170 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ATAGTGGGATCCTGACAGGGA 0.408000 17 75 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147624 6147624 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6147624G>A ENST00000588304.1 + 3 531 c.85G>A c.(85-87)Gaa>Aaa p.E29K ACSBG2_ENST00000586696.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E79K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E79K|ACSBG2_ENST00000588485.1_5'UTR Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 79 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAAAAAGTGGGAAATTCTGAA 0.433000 34 159 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147084830 147084830 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:147084830C>T ENST00000370467.3 + 2 461 c.387C>T c.(385-387)ttC>ttT p.F129F NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 129 P-type. integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) TGAATTTTTTCTTTCCAACAA 0.373000 8 25 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77355084 77355084 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:77355084G>A ENST00000282849.5 - 15 2597 c.2179C>T c.(2179-2181)Cat>Tat p.H727Y NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 727 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCTAGTTCATGATCACATCCC 0.393000 7 68 0 0 1 0 0 VASH2 79805 broad.mit.edu 37 1 213146091 213146091 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:213146091C>T ENST00000366968.4 + 7 822 c.472C>T c.(472-474)Cgg>Tgg p.R158W VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.R81W|VASH2_ENST00000366966.2_Missense_Mutation_p.R158W|VASH2_ENST00000366965.2_Missense_Mutation_p.R179W|VASH2_ENST00000517399.1_Missense_Mutation_p.R223W|VASH2_ENST00000366967.2_Missense_Mutation_p.R119W NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 223 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) ATTGACTTTTCGGACTCTGAG 0.512000 8 59 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 844788 844788 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:844788G>A ENST00000314167.4 - 26 3703 c.3593C>T c.(3592-3594)cCa>cTa p.P1198L GAK_ENST00000511163.1_Missense_Mutation_p.P1119L|GAK_ENST00000509566.1_5'UTR NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1198 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) AATGGTCTTTGGCCCTTTCTT 0.512000 8 71 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110366388 110366388 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:110366388T>C ENST00000519681.1 + 5 499 c.57T>C c.(55-57)aaT>aaC p.N19N PAK3_ENST00000372010.1_Silent_p.N19N|PAK3_ENST00000417227.1_Silent_p.N19N|PAK3_ENST00000262836.4_Silent_p.N19N|PAK3_ENST00000360648.4_Silent_p.N19N|PAK3_ENST00000372007.4_Silent_p.N19N|PAK3_ENST00000518291.1_Silent_p.N19N|PAK3_ENST00000446737.1_Silent_p.N19N|PAK3_ENST00000425146.1_Silent_p.N19N O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 19 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 TGAGGATGAATAGTAACAACC 0.473000 TSP Lung(19;0.15) 23 90 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167550570 167550570 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:167550570G>A ENST00000341935.5 + 3 1404 c.852G>A c.(850-852)atG>atA p.M284I CCR6_ENST00000400926.2_Missense_Mutation_p.M284I|CCR6_ENST00000349984.4_Missense_Mutation_p.M284I NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 284 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TGGGTAAAATGAACCGATCCT 0.483000 14 87 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143957196 143957196 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:143957196G>A ENST00000292427.4 - 6 1085 c.1053C>T c.(1051-1053)atC>atT p.I351I CYP11B1_ENST00000517471.1_Silent_p.I351I|CYP11B1_ENST00000377675.3_Silent_p.I422I NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 351 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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) Mitotane(DB00648) GATGTTCACTGATGCTGGCTG 0.657000 Familial Hyperaldosteronism type I 9 137 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57946980 57946980 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:57946980G>A ENST00000335397.3 + 3 380 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E22K(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGAATATCCTGAATGGGCACT 0.453000 9 98 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577272 179577272 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179577272C>T ENST00000589042.1 - 95 27601 c.27377G>A c.(27376-27378)gGa>gAa p.G9126E TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8809E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7882E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8809 Ig-like 74. 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) CAGGGGTTTTCCTTTCTCTAT 0.388000 4 19 0 0 1 0 0 CMC4 100272147 broad.mit.edu 37 X 154290181 154290181 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:154290181G>A ENST00000369484.3 - 3 822 c.144C>T c.(142-144)gtC>gtT p.V48V CMC4_ENST00000369479.1_Silent_p.V48V NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 CTGAACAGACGACAGATCTTC 0.428000 23 51 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729467 18729467 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:18729467C>T ENST00000440756.2 - 3 1009 c.907G>A c.(907-909)Gga>Aga p.G303R PSD3_ENST00000523619.1_Missense_Mutation_p.G238R|PSD3_ENST00000327040.8_Missense_Mutation_p.G303R Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 303 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATTTCCACTCCTTGAAATTCC 0.522000 13 105 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119345460 119345460 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:119345460C>T ENST00000338891.7 - 2 1121 c.678G>A c.(676-678)gaG>gaA p.E226E FAM184A_ENST00000521531.1_Silent_p.E226E|FAM184A_ENST00000368475.4_Silent_p.E106E|FAM184A_ENST00000522284.1_Silent_p.E106E|FAM184A_ENST00000352896.5_Silent_p.E106E|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 226 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GGGACTCCACCTCCATTCTGT 0.433000 9 40 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55805700 55805700 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55805700G>A ENST00000309383.1 + 7 890 c.613G>A c.(613-615)Gaa>Aaa p.E205K BRSK1_ENST00000585418.1_Missense_Mutation_p.E205K|BRSK1_ENST00000590333.1_Missense_Mutation_p.E221K NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 205 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.E205K(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CTTCCAGGGGGAAAAATATGA 0.577000 5 32 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65377018 65377018 + Nonsense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:65377018T>A ENST00000330909.8 - 14 2214 c.2215A>T c.(2215-2217)Aaa>Taa p.K739* MAGI1_ENST00000402939.2_Nonsense_Mutation_p.K739*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.K739*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.K739* NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 739 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGCTGTCTTTCCTTTCCAGT 0.502000 9 32 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330069 125330069 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:125330069G>A ENST00000304865.2 - 1 769 c.688C>T c.(688-690)Ccc>Tcc p.P230S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GAAGTAGAGGGAATCTTGAGA 0.433000 9 18 0 0 1 0 0 ANTXR1 84168 broad.mit.edu 37 2 69472545 69472545 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:69472545C>T ENST00000303714.4 + 18 1945 c.1623C>T c.(1621-1623)ccC>ccT p.P541P NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 541 Pro-rich. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 ccacccttccccctcctcccc 0.697000 Familial Infantile Hemangioma 4 7 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122928507 122928507 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:122928507G>A ENST00000534624.1 - 9 2152 c.1876C>T c.(1876-1878)Cct>Tct p.P626S HSPA8_ENST00000534319.1_Missense_Mutation_p.P390S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P473S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P480S|HSPA8_ENST00000227378.3_Missense_Mutation_p.P626S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P607S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P626S NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 626 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 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;0.0279) CCACCACCAGGAAATCCCCCA 0.522000 12 85 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116056765 116056765 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:116056765C>T ENST00000369271.3 - 18 2690 c.2390G>A c.(2389-2391)gGc>gAc p.G797D AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.G854D|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.G801D NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 801 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) AGTGCCTTTGCCTGTGACCAC 0.577000 20 82 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48683428 48683428 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48683428G>A ENST00000416767.4 + 23 4494 c.4466G>A c.(4465-4467)gGa>gAa p.G1489E CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000503485.1_Intron O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 978 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) AAGGAGGCTGGAGGGGGCACA 0.617000 13 78 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33412096 33412096 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:33412096C>T ENST00000404816.2 + 6 1728 c.1375C>T c.(1375-1377)Cat>Tat p.H459Y LTBP1_ENST00000407925.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.H459Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.H133Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.H133Y|LTBP1_ENST00000418533.2_Missense_Mutation_p.H133Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.H133Y Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 459 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GCATGTCATCCATTCAACACA 0.512000 9 41 0 0 1 0 0 CNPY1 285888 broad.mit.edu 37 7 155301590 155301590 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:155301590G>A ENST00000321736.5 - 2 305 c.144_splice c.e2+1 p.A48_splice CNPY1_ENST00000406197.1_Splice_Site_p.A48_splice NM_001103176.1 NP_001096646.1 Q3B7I2 CNPY1_HUMAN canopy FGF signaling regulator 1 48 breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGAGCTTACCGCAAATTTCAA 0.343000 3 40 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924522 105924522 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:105924522G>A ENST00000526793.1 - 3 1053 c.894C>T c.(892-894)ttC>ttT p.F298F KBTBD3_ENST00000534815.1_Silent_p.F219F|KBTBD3_ENST00000531837.1_Silent_p.F298F NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 294 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TTTTGTGAATGAATATGTATT 0.363000 7 49 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75109339 75109339 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:75109339C>T ENST00000290573.2 + 12 2412 c.1812C>T c.(1810-1812)ttC>ttT p.F604F HK2_ENST00000409174.1_Silent_p.F576F NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 604 Catalytic.|Substrate 2 binding. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CCTTCTCCTTCCCCTGCCAGC 0.557000 4 78 0 0 1 0 0 FLI1 2313 broad.mit.edu 37 11 128680810 128680810 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:128680810G>A ENST00000344954.6 + 9 1575 c.1187G>A c.(1186-1188)gGa>gAa p.G396E FLI1_ENST00000429175.2_Missense_Mutation_p.G429E|FLI1_ENST00000281428.8_Missense_Mutation_p.G363E|FLI1_ENST00000525560.1_Missense_Mutation_p.G236E|FLI1_ENST00000534087.1_Missense_Mutation_p.G396E Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 429 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CCCACGGGGGGAATCTACCCC 0.562000 T EWSR1 Ewing sarcoma 13 59 0 0 1 0 0 TMIE 259236 broad.mit.edu 37 3 46751177 46751177 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:46751177G>A ENST00000326431.3 + 4 625 c.470G>A c.(469-471)tGa>tAa p.*157* NM_147196.2 NP_671729.2 Q8NEW7 TMIE_HUMAN transmembrane inner ear 0 integral to membrane endometrium(1)|lung(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) GGAGAGAAATGAAGACATCCT 0.542000 3 26 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96795638 96795638 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:96795638G>A ENST00000342380.2 - 8 798 c.799C>T c.(799-801)Ctg>Ttg p.L267L NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 267 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GAGGCACTCAGGTTCCATCGC 0.667000 7 54 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123599579 123599579 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:123599579G>A ENST00000340011.5 + 5 1443 c.1086G>A c.(1084-1086)ctG>ctA p.L362L SPAM1_ENST00000439500.1_Silent_p.L362L|SPAM1_ENST00000223028.7_Silent_p.L362L|SPAM1_ENST00000402183.2_Silent_p.L362L|SPAM1_ENST00000460182.1_Silent_p.L362L NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 362 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AGACTATACTGAATCCTTACA 0.373000 6 48 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54914572 54914572 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54914572C>T ENST00000293373.6 + 17 1799 c.1720C>T c.(1720-1722)Cac>Tac p.H574Y NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H524Y NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 574 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GATTTGTGCTCACTTTGTCCA 0.468000 40 201 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141418911 141418911 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141418911G>A ENST00000397541.2 + 4 1031 c.625G>A c.(625-627)Gaa>Aaa p.E209K WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 209 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TTCCCGCTATGAAAAAGAATT 0.348000 13 68 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75065508 75065508 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75065508C>T ENST00000326665.5 - 11 1815 c.1597G>A c.(1597-1599)Gat>Aat p.D533N C1orf173_ENST00000420661.2_Missense_Mutation_p.D336N|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 533 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 TCTTTTTTATCATCCAAAGGT 0.398000 16 158 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430875 37430875 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:37430875C>T ENST00000374660.1 + 7 981 c.882C>T c.(880-882)ttC>ttT p.F294F ANKRD30A_ENST00000602533.1_Silent_p.F294F|ANKRD30A_ENST00000361713.1_Silent_p.F294F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 350 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTGGAAAGTTCGAACAGTCAG 0.443000 32 72 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121304984 121304984 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121304984C>T ENST00000334384.3 + 4 495 c.485C>T c.(484-486)tCc>tTc p.S162F NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) CCCAGAACATCCCCCAGTCCT 0.493000 14 89 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104999240 104999240 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:104999240C>T ENST00000372582.1 + 10 2018 c.1262C>T c.(1261-1263)cCt>cTt p.P421L IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P421L|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P26L NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 421 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTGACAATCCTGAAGAAGAG 0.388000 16 62 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398533 89398533 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:89398533C>T ENST00000439576.2 + 12 3091 c.2717C>T c.(2716-2718)tCc>tTc p.S906F ACAN_ENST00000559004.1_Missense_Mutation_p.S906F|ACAN_ENST00000561243.1_Missense_Mutation_p.S906F|ACAN_ENST00000352105.7_Missense_Mutation_p.S906F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 906 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGTCTTACTTCCACAGTGGGC 0.572000 4 43 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217122 150217122 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150217122G>A ENST00000313543.4 + 2 217 c.60G>A c.(58-60)ggG>ggA p.G20G NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 20 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGGAAGTGGGAAAAGTGCAA 0.498000 5 51 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105362500 105362500 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:105362500G>A ENST00000369774.4 - 15 2751 c.2475C>T c.(2473-2475)ctC>ctT p.L825L SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.L692L|SH3PXD2A_ENST00000538130.1_Silent_p.L660L|SH3PXD2A_ENST00000355946.2_Silent_p.L797L|SH3PXD2A_ENST00000315994.6_5'UTR Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 825 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TGGTGGCTGGGAGGGTGATGA 0.622000 27 78 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120512204 120512204 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120512204G>A ENST00000256646.2 - 6 1257 c.1038C>T c.(1036-1038)tcC>tcT p.S346S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 346 EGF-like 9; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGAGTACAGGAGGCGAAGG 0.557000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 7 47 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117709096 117709096 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117709096C>T ENST00000368508.3 - 13 2059 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E616K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 621 Fibronectin type-III 3. 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) TGAGTGACTTCAGGAGGGTCT 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 29 151 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139299123 139299123 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139299123C>T ENST00000406875.3 - 8 1993 c.1899G>A c.(1897-1899)cgG>cgA p.R633R HIPK2_ENST00000342645.6_Silent_p.R633R|HIPK2_ENST00000428878.2_Silent_p.R606R NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 633 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGGGCATGCTCCGCTGGGCCA 0.577000 9 26 0 0 1 0 0 SOCS5 9655 broad.mit.edu 37 2 46986972 46986972 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:46986972C>T ENST00000306503.5 + 2 1475 c.1303C>T c.(1303-1305)Cac>Tac p.H435Y SOCS5_ENST00000394861.2_Missense_Mutation_p.H435Y NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 435 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GCAGTGGAATCACAACTTTAG 0.483000 20 104 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107145430 107145430 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:107145430C>T ENST00000245323.4 - 5 1109 c.960G>A c.(958-960)gaG>gaA p.E320E NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 320 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GCGGGGGCATCTCCTGGACGA 0.592000 5 29 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129822251 129822251 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:129822251G>A ENST00000422113.2 - 4 1553 c.1227C>T c.(1225-1227)atC>atT p.I409I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 409 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGTCAGACGTGATCTCTCCGG 0.582000 10 137 0 0 1 0 0 SNAP91 9892 broad.mit.edu 37 6 84269854 84269854 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:84269854G>A ENST00000428679.2 - 28 3193 c.2600C>T c.(2599-2601)cCc>cTc p.P867L SNAP91_ENST00000195649.6_Missense_Mutation_p.P862L|SNAP91_ENST00000520213.1_Missense_Mutation_p.P560L|SNAP91_ENST00000439399.2_Missense_Mutation_p.P867L|SNAP91_ENST00000520302.1_Missense_Mutation_p.P837L|SNAP91_ENST00000437520.1_Missense_Mutation_p.P560L|SNAP91_ENST00000369694.2_Missense_Mutation_p.P867L|SNAP91_ENST00000521743.1_Missense_Mutation_p.P867L|SNAP91_ENST00000521485.1_Missense_Mutation_p.P862L O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 867 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) AGCTCCAAAGGGGGGCCTCAT 0.517000 13 69 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164714347 164714347 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:164714347C>T ENST00000264382.3 - 40 4730 c.4668G>A c.(4666-4668)agG>agA p.R1556R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1556 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R1556S(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTGTGATTCCTTGAGTATG 0.353000 HNSCC(35;0.089) 7 41 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81205386 81205386 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81205386C>T ENST00000552864.1 - 5 762 c.560G>A c.(559-561)cGa>cAa p.R187Q NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) 187 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 TGGGGTGTATCGCACCACCAG 0.483000 4 44 0 0 1 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310737 75310737 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:75310737C>T ENST00000562212.1 + 6 556 c.398C>T c.(397-399)cCc>cTc p.P133L SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000425597.3_Intron|SCAMP5_ENST00000361900.6_Intron|SCAMP5_ENST00000568081.1_Intron Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 132 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 GCCCGCAGCCCCACACTGGCC 0.587000 9 126 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354861 45354861 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:45354861C>T ENST00000359271.2 + 2 1436 c.1186C>T c.(1186-1188)Cct>Tct p.P396S NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 396 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) CTCTGCCCTCCCTGGGCCCCC 0.637000 7 43 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477257 58477257 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58477257C>T ENST00000344743.3 - 6 1014 c.873G>A c.(871-873)tgG>tgA p.W291* GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W291* NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 291 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) GTACACAGTTCCACTGGTTCC 0.433000 9 84 0 0 1 0 0 COLEC10 10584 broad.mit.edu 37 8 120118298 120118298 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:120118298G>A ENST00000332843.2 + 6 743 c.702G>A c.(700-702)tgG>tgA p.W234* NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 234 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) ATAGCAACTGGAATGAGGGGG 0.507000 10 52 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954687 79954687 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:79954687G>A ENST00000306729.7 + 7 995 c.898G>A c.(898-900)Gag>Aag p.E300K ASPSCR1_ENST00000306739.4_Missense_Mutation_p.E300K|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.E223K NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 300 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) gcaggagcgggagcgggatcc 0.642000 T TFE3 alveolar soft part sarcoma 9 75 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76715024 76715024 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:76715024C>T ENST00000369950.3 - 10 1304 c.1115G>A c.(1114-1116)gGg>gAg p.G372E IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 372 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CTGAATTGTCCCCACATCCAA 0.418000 9 73 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70423284 70423284 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:70423284C>T ENST00000327305.6 - 8 1624 c.967G>A c.(967-969)Gaa>Aaa p.E323K NETO1_ENST00000583169.1_Missense_Mutation_p.E323K|NETO1_ENST00000299430.2_Missense_Mutation_p.E322K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 323 LDL-receptor class A. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CAGTGATTTTCATCCCAAGGA 0.378000 7 60 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49753931 49753931 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:49753931G>A ENST00000304801.3 - 1 1122 c.970C>T c.(970-972)Cat>Tat p.H324Y NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 324 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) ACTTGAGCATGATTCTTGTTG 0.488000 32 163 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424120 56424120 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56424120G>A ENST00000588751.1 - 5 1087 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S NLRP13_ENST00000342929.3_Missense_Mutation_p.P355S Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 355 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTAGCCAGGGGAACCAATTCT 0.473000 13 80 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143603400 143603400 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:143603400C>T ENST00000517894.1 + 21 3993 c.3099C>T c.(3097-3099)gcC>gcT p.A1033A BAI1_ENST00000323289.5_Silent_p.A1033A O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1033 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TCACCGAGGCCTGGCAGTCCT 0.692000 3 27 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126774213 126774213 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:126774213G>A ENST00000274473.6 + 18 2454 c.2187G>A c.(2185-2187)ggG>ggA p.G729G MEGF10_ENST00000503335.2_Silent_p.G729G NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 729 EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CCTACGATGGGGAATGTAAAT 0.542000 13 95 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907327 153907327 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:153907327C>T ENST00000361217.4 - 18 3100 c.2682G>A c.(2680-2682)cgG>cgA p.R894R NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 894 Gln-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgcCGTTCTCTCA 0.647000 6 82 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087230 47087230 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:47087230G>A ENST00000374312.1 + 3 866 c.447G>A c.(445-447)tgG>tgA p.W149* NPY4R_ENST00000395716.1_Nonsense_Mutation_p.W149* NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CAACAGGCTGGAAGCCCAGCA 0.592000 10 144 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63885182 63885182 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:63885182G>A ENST00000246841.3 + 2 2486 c.1443G>A c.(1441-1443)acG>acA p.T481T MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 453 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 GCTCCATCACGGAGACCTTGG 0.627000 16 38 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629267 47629267 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:47629267G>A ENST00000546455.1 + 4 1152 c.421G>A c.(421-423)Gag>Aag p.E141K PCED1B_ENST00000432328.1_Missense_Mutation_p.E141K PC-esterase domain containing 1B AAGCTACCTGGAGAACCTGGA 0.622000 11 63 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14891492 14891492 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrY:14891492C>T ENST00000338981.3 + 22 4008 c.3063C>T c.(3061-3063)ttC>ttT p.F1021F USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1021 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 ACATCTCTTTCCTTTGGCAAG 0.358000 7 44 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17464556 17464556 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:17464556C>T ENST00000380647.3 + 21 3550 c.3466C>T c.(3466-3468)Cga>Tga p.R1156* CNTLN_ENST00000262360.5_Nonsense_Mutation_p.R1156*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.R1156* Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1156 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CTTGAAATTTCGACAGAAAGT 0.284000 6 49 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030088 95030088 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:95030088C>T ENST00000557004.1 + 2 690 c.269C>T c.(268-270)tCc>tTc p.S90F SERPINA4_ENST00000555095.1_Missense_Mutation_p.S90F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.S90F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 90 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCCATGCTTTCCCTGGGGGCC 0.607000 10 33 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115223035 115223035 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115223035C>T ENST00000369538.3 - 5 746 c.699G>A c.(697-699)ctG>ctA p.L233L AMPD1_ENST00000520113.2_Silent_p.L237L|AMPD1_ENST00000353928.6_Silent_p.L204L NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 204 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.L237L(1)|p.L204L(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GGTGATAGCCCAGGTTTTCAG 0.443000 26 116 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106967736 106967736 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:106967736C>T ENST00000369066.3 + 2 1916 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 477 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGGGATGTTCCCAAAGACAC 0.483000 25 99 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60212694 60212694 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:60212694G>A ENST00000267484.5 - 2 1082 c.747C>T c.(745-747)atC>atT p.I249I NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 249 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGTCCTTGATGATTTTTCCCT 0.428000 28 129 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107841957 107841957 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107841957G>A ENST00000328300.6 + 25 2049 c.1805G>A c.(1804-1806)aGa>aAa p.R602K COL4A5_ENST00000361603.2_Missense_Mutation_p.R602K NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 602 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AAGGGTGAAAGAGGTCCCCCT 0.478000 Alport syndrome with Diffuse Leiomyomatosis 16 65 0 0 1 0 0 SCG3 29106 broad.mit.edu 37 15 51975487 51975487 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51975487G>A ENST00000220478.3 + 4 656 c.253G>A c.(253-255)Gaa>Aaa p.E85K SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 85 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AACAGAAAAGGAAAAAATTGA 0.373000 33 131 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30138773 30138773 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30138773G>A ENST00000376694.4 + 6 1337 c.868G>A c.(868-870)Gaa>Aaa p.E290K TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 290 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCATCATCTGGAAATAGATTC 0.428000 8 139 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5146522 5146522 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:5146522G>A ENST00000274181.7 + 3 593 c.455G>A c.(454-456)cGa>cAa p.R152Q ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R152Q|CTD-2297D10.1_ENST00000514848.1_RNA NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 152 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCTCTTTGCGATCACACAGA 0.537000 14 111 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130530648 130530648 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:130530648C>T ENST00000532763.1 - 4 498 c.369G>A c.(367-369)ttG>ttA p.L123L SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Silent_p.L149L|SAMD3_ENST00000439090.2_Silent_p.L125L|SAMD3_ENST00000368134.2_Silent_p.L125L|SAMD3_ENST00000437477.2_Silent_p.L125L|SAMD3_ENST00000324172.6_Silent_p.L125L Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 125 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACCTCTGTTTCAATACTCTTT 0.393000 7 23 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70886083 70886083 + Silent SNP C C T rs144050734 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:70886083C>T ENST00000333538.5 + 5 1588 c.954C>T c.(952-954)ctC>ctT p.L318L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 318 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L318L(1) 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) ACCCTTCTCTCCCCATCAGGT 0.612000 3 37 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2836196 2836196 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:2836196C>T ENST00000520002.1 - 56 9062 c.8507G>A c.(8506-8508)gGa>gAa p.G2836E CSMD1_ENST00000602723.1_Missense_Mutation_p.G2778E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2835E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2836E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2777E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2778E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2836 Sushi 20. 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) GGCTGAAGATCCCAGCAAGTA 0.478000 4 16 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102340892 102340892 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:102340892G>A ENST00000379787.4 + 0 2138 PAM_ENST00000346918.2_Missense_Mutation_p.D589N|PAM_ENST00000304400.7_Missense_Mutation_p.D589N|PAM_ENST00000438793.3_Missense_Mutation_p.D589N|PAM_ENST00000348126.2_Missense_Mutation_p.D482N|PAM_ENST00000455264.2_Missense_Mutation_p.D589N|PAM_ENST00000274392.9_Missense_Mutation_p.D492N P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TATAGATAAAGATGGGAATTA 0.348000 6 31 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777236 123777236 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123777236G>A ENST00000321355.2 + 1 128 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CTCTTCTTAGGAATTTACACA 0.423000 7 76 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24394468 24394468 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:24394468C>T ENST00000330966.7 - 27 3512 c.3350G>A c.(3349-3351)aGa>aAa p.R1117K MYOM3_ENST00000374434.3_Missense_Mutation_p.R1116K|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.R1116K|RP11-293P20.4_ENST00000429191.1_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1116 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACCCTGTTTTCTCTTCCAGTC 0.532000 64 261 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102562710 102562710 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102562710T>G ENST00000260229.4 - 10 1420 c.1329A>C c.(1327-1329)caA>caC p.Q443H NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 443 Hemopexin-like 4. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CGTATTCAAATTGCTTTGATC 0.313000 5 27 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100595388 100595388 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:100595388C>T ENST00000471714.1 - 7 843 c.734G>A c.(733-735)aGg>aAg p.R245K ABI3BP_ENST00000284322.5_Missense_Mutation_p.R245K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.R245K Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 245 extracellular space p.R245T(2) 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 GATTAGTTTCCTTGGGACATA 0.363000 3 52 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414348 48414348 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48414348C>T ENST00000249598.1 - 2 679 c.520G>A c.(520-522)Gat>Aat p.D174N NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 174 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCCAGAACATCATAAATGACC 0.517000 4 28 0 0 1 0 0 OR52L1 338751 broad.mit.edu 37 11 6007660 6007660 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6007660C>T ENST00000332249.4 - 1 555 c.501G>A c.(499-501)ctG>ctA p.L167L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCCCTCACCAGCACCACCA 0.502000 8 67 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672439 186672439 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:186672439G>A ENST00000343098.5 + 17 18673 c.18673G>A c.(18673-18675)Gga>Aga p.G6225R FSIP2_ENST00000424728.1_Missense_Mutation_p.G6136R NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTATTTTTGTGGAGAGCTAAC 0.403000 10 86 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89943338 89943338 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:89943338G>A ENST00000405460.2 + 17 3142 c.3046G>A c.(3046-3048)Gaa>Aaa p.E1016K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1016 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAGGGTTCAGGAAGGTGAGAC 0.433000 4 51 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19256313 19256313 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:19256313G>A ENST00000527884.1 - 5 976 c.744C>T c.(742-744)ctC>ctT p.L248L RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.L248L NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 248 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCACTCCAGGGAGTTCCACAA 0.448000 4 50 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92988028 92988028 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:92988028C>T ENST00000268164.3 + 5 948 c.711C>T c.(709-711)atC>atT p.I237I ST8SIA2_ENST00000539113.1_Silent_p.I216I NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 237 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.I237I(1) endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) ATGGCAGCATCCTGTGGATCC 0.612000 6 35 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84459371 84459371 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84459371G>A ENST00000416219.2 + 11 1039 c.950G>A c.(949-951)gGg>gAg p.G317E ATP2C2_ENST00000262429.4_Missense_Mutation_p.G317E|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 317 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.G317E(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TGGTCGCAAGGGAAACAACTC 0.537000 9 183 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639094 179639094 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179639094C>T ENST00000589042.1 - 30 7121 c.6897G>A c.(6895-6897)tgG>tgA p.W2299* TTN_ENST00000460472.2_Nonsense_Mutation_p.W2253*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W2253*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W2299*|TTN_ENST00000360870.5_Nonsense_Mutation_p.W2299*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W2253*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W2299*|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2015 Ig-like 12. 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) CATTATGATACCATTTTCCTT 0.393000 15 48 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34329811 34329811 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:34329811C>G ENST00000522796.1 + 4 1924 c.19C>G c.(19-21)Cta>Gta p.L7V CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.L7V|HMGB4_ENST00000425537.1_Intron B2R4X7 B2R4X7_HUMAN high mobility group box 4 7 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGAAATCCAGCTAAAGCCTAA 0.408000 12 100 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121958681 121958681 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:121958681C>T ENST00000379692.4 - 4 971 c.445G>A c.(445-447)Gat>Aat p.D149N NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 149 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GAAAGAAGATCCAACTGATAT 0.408000 22 82 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680634 30680634 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30680634C>A ENST00000376406.3 - 5 1732 c.1085G>T c.(1084-1086)gGa>gTa p.G362V MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.G362V NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 362 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GCCTGGTGCTCCAGGACCCCT 0.552000 Other conserved DNA damage response genes 16 94 4.14922e-12 4.20118e-12 1 1 0 KIAA2018 205717 broad.mit.edu 37 3 113376431 113376431 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:113376431G>A ENST00000316407.4 - 7 4508 c.4098C>T c.(4096-4098)acC>acT p.T1366T KIAA2018_ENST00000478658.1_Silent_p.T1366T|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1366 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTCAGAAATGGTGTCTGGAG 0.473000 18 53 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2189824 2189824 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:2189824C>T ENST00000381178.1 - 4 495 c.477G>A c.(475-477)ctG>ctA p.L159L TH_ENST00000352909.3_Silent_p.L128L|TH_ENST00000333684.5_Silent_p.L132L|TH_ENST00000381175.1_Silent_p.L155L NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 159 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) CGAAGTACTCCAGGTGGGGGC 0.672000 3 22 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38976650 38976650 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38976650G>A ENST00000359357.3 + 87 12878 c.12624G>A c.(12622-12624)gaG>gaA p.E4208E DNAH8_ENST00000441566.1_Silent_p.E4172E dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACCCAAAGAGAGTGGAGGTG 0.418000 8 153 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118742 194118742 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:194118742G>A ENST00000401815.1 - 1 341 c.270C>T c.(268-270)gcC>gcT p.A90A GP5_ENST00000323007.3_Silent_p.A90A P40197 GPV_HUMAN glycoprotein V (platelet) 90 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) AGGTGCCGGGGGCAACGGCGG 0.592000 35 102 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10356609 10356609 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10356609C>T ENST00000255381.2 - 24 3081 c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 991 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCAATGGTTTCATCCAGACCT 0.463000 38 111 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17552625 17552625 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:17552625C>T ENST00000375471.4 + 6 716 c.624C>T c.(622-624)tcC>tcT p.S208S NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 208 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TTTCTGATTCCAAAAGAGTGA 0.557000 24 84 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18828608 18828608 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:18828608G>A ENST00000396576.2 + 13 2274 c.1773G>A c.(1771-1773)cgG>cgA p.R591R CACNB2_ENST00000324631.7_Silent_p.R646R|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Silent_p.R598R|CACNB2_ENST00000352115.6_Silent_p.R622R|CACNB2_ENST00000282343.8_Silent_p.R618R|CACNB2_ENST00000377328.1_Silent_p.R396R|CACNB2_ENST00000377329.4_Silent_p.R592R|CACNB2_ENST00000377331.2_Silent_p.R594R|CACNB2_ENST00000377319.3_Silent_p.R553R NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 646 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAAAAAAACGGAATGAGGCTG 0.423000 17 71 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 142649 142649 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:142649G>A ENST00000399953.3 - 10 1508 c.1106C>T c.(1105-1107)tCc>tTc p.S369F NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.S190F NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 369 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 GACCGGCAAGGAGAACTTGGC 0.592000 7 20 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816286 6816286 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:6816286G>A ENST00000332601.3 - 1 842 c.654C>T c.(652-654)gtC>gtT p.V218V NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AGGCCCCAGTGACAGAGAGTG 0.502000 21 113 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712163 121712163 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121712163G>A ENST00000273691.3 - 6 1406 c.1301C>T c.(1300-1302)tCc>tTc p.S434F ILDR1_ENST00000344209.5_Missense_Mutation_p.S478F|ILDR1_ENST00000393631.1_Missense_Mutation_p.S389F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S446F NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 478 Arg-rich. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) AGAGCTCCAGGAACTGAGGCC 0.711000 4 35 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276850 114276850 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:114276850C>T ENST00000357077.4 + 38 7129 c.7076C>T c.(7075-7077)tCa>tTa p.S2359L ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2326L|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2326 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) TTTGGTAGTTCAGCCCACAAG 0.502000 10 48 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94543278 94543278 + Missense_Mutation SNP G G A rs138157885 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94543278G>A ENST00000370225.3 - 11 1608 c.1522C>T c.(1522-1524)Cgc>Tgc p.R508C ABCA4_ENST00000535735.1_Missense_Mutation_p.R508C NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 508 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGGAGGGTGCGATCAGTGATG 0.567000 17 97 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17415870 17415870 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:17415870C>T ENST00000380647.3 + 17 2965 c.2881C>T c.(2881-2883)Cct>Tct p.P961S CNTLN_ENST00000262360.5_Missense_Mutation_p.P961S|CNTLN_ENST00000425824.1_Missense_Mutation_p.P961S Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 961 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) TACAGCAGTTCCTACTAGAGG 0.264000 3 37 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555132 44555132 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:44555132G>A ENST00000330682.2 - 1 1317 c.1082C>T c.(1081-1083)tCg>tTg p.S361L KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 361 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.S361L(1)|p.S361*(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TTCAAGAACCGAGTAGGGGAC 0.627000 9 1006 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55519266 55519266 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:55519266C>T ENST00000219070.4 + 4 1094 c.585C>T c.(583-585)ttC>ttT p.F195F MMP2_ENST00000437642.2_Silent_p.F145F|MMP2_ENST00000570308.1_Silent_p.F119F|MMP2_ENST00000543485.1_Silent_p.F119F NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 195 Collagenase-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CTCATGCCTTCGCCCCAGGCA 0.577000 8 84 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236221 42236221 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42236221G>A ENST00000541110.1 - 5 1676 c.1108C>T c.(1108-1110)Ccc>Tcc p.P370S TRERF1_ENST00000372917.4_Missense_Mutation_p.P370S|TRERF1_ENST00000372922.4_Missense_Mutation_p.P370S|TRERF1_ENST00000354325.2_Missense_Mutation_p.P370S|TRERF1_ENST00000340840.2_Missense_Mutation_p.P370S Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 370 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGCCCAGGGGAATCAGCTGG 0.607000 17 164 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44174915 44174915 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:44174915C>T ENST00000260665.7 - 19 1978 c.e19-1 NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGTGAGCATCCTAAAATTGAA 0.299000 3 25 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91660736 91660736 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:91660736C>T ENST00000375835.4 - 9 1432 c.1126G>A c.(1126-1128)Gag>Aag p.E376K SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 376 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TAAGTCTGCTCTTTTCCTGCA 0.423000 9 51 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189507602 189507602 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189507602G>A ENST00000354600.5 + 1 154 c.13G>A c.(13-15)Gaa>Aaa p.E5K TP63_ENST00000264731.3_Intron|TP63_ENST00000392461.3_Missense_Mutation_p.E5K|TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.E5K|TP63_ENST00000418709.2_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.E5K|TP63_ENST00000449992.1_Missense_Mutation_p.E5K|TP63_ENST00000392463.2_Missense_Mutation_p.E5K|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000392460.3_Intron NM_001114980.1|NM_001114981.1 NP_001108452.1|NP_001108453.1 Q9H3D4 P63_HUMAN tumor protein p63 0 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTTGTACCTGGAAAACAATGC 0.388000 HNSCC(45;0.13) 4 13 0 0 1 0 0 GTF2H4 2968 broad.mit.edu 37 6 30877808 30877808 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:30877808C>T ENST00000259895.4 + 4 565 c.342C>T c.(340-342)ttC>ttT p.F114F GTF2H4_ENST00000376316.2_Silent_p.F114F|GTF2H4_ENST00000539324.1_Silent_p.F58F NM_001517.4 NP_001508.1 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 52kDa 114 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACCCCATTTTCCGCCAGAACC 0.572000 Nucleotide excision repair (NER) 14 177 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928890 4928890 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4928890C>T ENST00000359350.4 + 1 291 c.291C>T c.(289-291)tgC>tgT p.C97C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTAATGCCTGCTTTGCTCAAG 0.453000 15 92 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85559244 85559244 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:85559244C>T ENST00000294664.6 + 9 1141 c.961C>T c.(961-963)Cac>Tac p.H321Y WDR63_ENST00000370596.1_Missense_Mutation_p.H282Y|WDR63_ENST00000326813.8_Missense_Mutation_p.H282Y NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 321 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GACCGATACCCACCTGAAAGA 0.438000 27 110 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50342258 50342258 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:50342258C>T ENST00000394697.2 + 16 2211 c.1871C>T c.(1870-1872)tCc>tTc p.S624F ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.S624F|ADCY7_ENST00000538642.1_Missense_Mutation_p.S624F|ADCY7_ENST00000254235.3_Missense_Mutation_p.S624F P51828 ADCY7_HUMAN adenylate cyclase 7 624 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CTGGGTGTGTCCTTCGGGCTG 0.662000 18 102 0 0 1 0 0 CYBRD1 79901 broad.mit.edu 37 2 172398102 172398102 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:172398102C>T ENST00000321348.4 + 2 399 c.201C>T c.(199-201)atC>atT p.I67I CYBRD1_ENST00000409484.1_Silent_p.I9I|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Intron NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 67 Cytochrome b561. cellular iron ion homeostasis|electron transport chain|transmembrane transport integral to membrane ferric-chelate reductase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 TAGCCATCATCGTCTACAGAC 0.428000 6 50 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39135199 39135199 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39135199G>A ENST00000377755.4 - 6 1087 c.1053C>T c.(1051-1053)atC>atT p.I351I KRT40_ENST00000398486.2_Silent_p.I351I Q6A162 K1C40_HUMAN keratin 40 351 Coil 2.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) CCAGGTTATCGATCAGACACT 0.592000 4 84 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103326776 103326776 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:103326776C>T ENST00000376052.3 + 28 3531 c.3515C>T c.(3514-3516)cCt>cTt p.P1172L TPP2_ENST00000376065.4_Missense_Mutation_p.P1159L|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1159 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGAGAAAGTCCTTTGGATTCT 0.453000 4 61 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683532 6683532 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:6683532C>T ENST00000321535.4 + 2 475 c.345C>T c.(343-345)ctC>ctT p.L115L NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 115 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TGCGGGGCCTCCTGTCTTGTC 0.488000 21 75 0 0 1 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74309914 74309914 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:74309914G>A ENST00000446526.3 - 8 1285 c.840C>T c.(838-840)atC>atT p.I280I PRPSAP1_ENST00000324684.4_Silent_p.I177I NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 251 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 CGATGATTGCGATGCGGCCTC 0.458000 6 44 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82447657 82447657 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82447657G>A ENST00000370728.1 + 21 3912 c.3267G>A c.(3265-3267)aaG>aaA p.K1089K LPHN2_ENST00000370727.1_Silent_p.K1104K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.K1076K|LPHN2_ENST00000271029.4_Silent_p.K1104K|LPHN2_ENST00000394879.1_Silent_p.K1091K|LPHN2_ENST00000370730.1_Silent_p.K1089K|LPHN2_ENST00000319517.6_Silent_p.K1076K|LPHN2_ENST00000370717.2_Silent_p.K1104K|LPHN2_ENST00000370725.1_Silent_p.K1104K|LPHN2_ENST00000335786.5_Silent_p.K1089K|LPHN2_ENST00000359929.3_Silent_p.K1076K|LPHN2_ENST00000370721.1_Silent_p.K1014K|LPHN2_ENST00000370723.1_Silent_p.K1091K|LPHN2_ENST00000370715.1_Silent_p.K1076K O95490 LPHN2_HUMAN latrophilin 2 1089 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) CTCTCCAAAAGAAAGTAAGTA 0.313000 4 48 0 0 1 0 0 MURC 347273 broad.mit.edu 37 9 103348477 103348477 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:103348477G>A ENST00000307584.5 + 2 904 c.839G>A c.(838-840)cGa>cAa p.R280Q NM_001018116.1 NP_001018126.1 Q5BKX8 MURC_HUMAN muscle-related coiled-coil protein 280 cell differentiation|muscle organ development|transcription, DNA-dependent endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1) 16 Acute lymphoblastic leukemia(62;0.0461) GGTAAGGACCGAACAGTGGCT 0.517000 15 77 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146067419 146067419 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:146067419G>A ENST00000454497.2 - 14 1364 c.1227_splice c.e14+1 p.S409_splice OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Splice_Site_p.S474_splice NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 473 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) TCATACATACGGAAAGGGCTG 0.373000 4 33 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67862969 67862969 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:67862969C>T ENST00000433211.1 - 14 2097 c.1923G>A c.(1921-1923)gaG>gaA p.E641E CTNNA3_ENST00000373744.4_Silent_p.E641E NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 641 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CCTCGTGTTCCTCTTCAAGGT 0.443000 4 41 0 0 1 0 0 TACR1 6869 broad.mit.edu 37 2 75425860 75425860 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:75425860C>T ENST00000305249.4 - 1 966 c.201G>A c.(199-201)acG>acA p.T67T TACR1_ENST00000409848.3_Silent_p.T67T NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GAAAATAGTTCGTCACTGTCC 0.512000 6 33 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67519626 67519626 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:67519626C>T ENST00000235345.5 - 1 156 c.71G>A c.(70-72)cGa>cAa p.R24Q NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 24 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) CTCCTCATCTCGGAGTGTGGA 0.632000 8 40 0 0 1 0 0 ITFG1 81533 broad.mit.edu 37 16 47195664 47195664 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:47195664C>T ENST00000320640.6 - 16 1886 c.1658G>A c.(1657-1659)cGa>cAa p.R553Q RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.R440Q|ITFG1_ENST00000568047.1_5'UTR NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 553 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) ACATTACCTTCGAGGGACATT 0.388000 10 75 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133053349 133053349 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:133053349G>A ENST00000262283.5 - 9 1086 c.987C>T c.(985-987)ctC>ctT p.L329L OC90_ENST00000254627.3_Silent_p.L133L|OC90_ENST00000443356.2_Silent_p.L133L|OC90_ENST00000603859.1_Silent_p.L133L Q02509 OC90_HUMAN otoconin 90 133 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CGGGGTCTTGGAGACAGTCCA 0.572000 10 79 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884261 228884261 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:228884261C>T ENST00000392056.3 - 7 1355 c.1309G>A c.(1309-1311)Gat>Aat p.D437N SPHKAP_ENST00000344657.5_Missense_Mutation_p.D437N NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 437 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) ACCACTGTATCTTTTGTGGAA 0.473000 7 72 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649312 47649312 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:47649312C>T ENST00000398742.2 + 5 862 c.813C>T c.(811-813)gtC>gtT p.V271V GPR111_ENST00000507065.1_Silent_p.V271V|GPR111_ENST00000296862.1_Silent_p.V339V Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 339 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CTTCTCAGGTCATCAGCATTG 0.438000 18 123 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6214928 6214928 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:6214928G>A ENST00000262450.3 - 5 636 c.537C>T c.(535-537)atC>atT p.I179I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 179 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) TGGACATGGGGATCTTCGGGT 0.657000 15 69 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828490 72828490 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:72828490C>T ENST00000268489.5 - 9 8763 c.8091G>A c.(8089-8091)agG>agA p.R2697R ZFHX3_ENST00000397992.5_Silent_p.R1783R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2697 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGTCCTTTCCTTTCCCGAG 0.542000 10 87 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552339 100552339 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:100552339G>A ENST00000319509.7 + 1 1090 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CTTTACTACCGAAATGGTCAC 0.478000 96 290 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502663 20502663 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20502663G>A ENST00000315693.2 - 1 256 c.255C>T c.(253-255)ttC>ttT p.F85F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTTCTCGGAGGAAATCTACAA 0.458000 13 49 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75685015 75685015 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75685015G>A ENST00000370855.5 - 16 1306 c.1193C>T c.(1192-1194)tCg>tTg p.S398L SLC44A5_ENST00000535611.1_Missense_Mutation_p.S268L|SLC44A5_ENST00000370859.3_Missense_Mutation_p.S398L NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 398 integral to membrane|plasma membrane choline transmembrane transporter activity p.S398*(2) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AGGTACCCCCGATGTCGCCAA 0.388000 17 50 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086638 56086638 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56086638C>T ENST00000312711.1 + 1 856 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) CATGTTGAATCCCTTGATCTA 0.353000 3 24 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212426678 212426678 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:212426678C>T ENST00000342788.4 - 20 2747 c.2437G>A c.(2437-2439)Gat>Aat p.D813N ERBB4_ENST00000402597.1_Missense_Mutation_p.D803N|ERBB4_ENST00000436443.1_Missense_Mutation_p.D813N NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 813 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCAATGTTATCCTTGTGCTCG 0.458000 TSP Lung(8;0.080) 11 100 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55681990 55681990 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55681990C>T ENST00000344514.1 - 1 68 c.69G>A c.(67-69)atG>atA p.M23I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGGTCACTTTCATCTCTGGGT 0.348000 6 56 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261258 49261258 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49261258C>T ENST00000593756.1 + 4 983 c.411C>T c.(409-411)tcC>tcT p.S137S FGF21_ENST00000222157.3_Silent_p.S137S Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 137 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTTACCAGTCCGAAGCCCACG 0.617000 22 189 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48660350 48660350 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:48660350T>A ENST00000263274.7 - 5 710 c.291A>T c.(289-291)acA>acT p.T97T LIG1_ENST00000599165.1_Intron|LIG1_ENST00000536218.1_Silent_p.T97T|LIG1_ENST00000427526.2_Silent_p.T67T NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 97 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TCTCAGGAGATGTGGCAGGAC 0.592000 Nucleotide excision repair (NER) 34 197 0 0 1 0 0 MUL1 79594 broad.mit.edu 37 1 20827741 20827741 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:20827741G>A ENST00000264198.3 - 4 637 c.501C>T c.(499-501)acC>acT p.T167T NM_024544.2 NP_078820.2 Q969V5 MUL1_HUMAN mitochondrial E3 ubiquitin protein ligase 1 167 activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to mitochondrial outer membrane|nucleus|peroxisome identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(5) 11 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CGATGACATCGGTGAAGGACT 0.592000 16 120 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54142288 54142288 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:54142288G>A ENST00000265572.3 - 4 1009 c.712C>T c.(712-714)Cct>Tct p.P238S OPRK1_ENST00000520287.1_Missense_Mutation_p.P238S|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.P149S NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 238 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ATGAGGACAGGGATCACGAAG 0.532000 7 50 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338859 19338859 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:19338859C>T ENST00000252575.5 + 8 2473 c.2430C>T c.(2428-2430)gtC>gtT p.V810V NCAN_ENST00000538881.1_Silent_p.V261V NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 810 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TACCCAAAGTCACCCCAAATT 0.572000 7 67 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75086533 75086533 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75086533C>T ENST00000326665.5 - 8 1103 c.885G>A c.(883-885)ggG>ggA p.G295G C1orf173_ENST00000420661.2_Silent_p.G98G|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 295 p.G295G(1) 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 GCACATTTTTCCCCAAATAGA 0.363000 10 57 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46307613 46307613 + Silent SNP G G A rs149579519 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:46307613G>A ENST00000510861.1 - 7 848 c.675C>T c.(673-675)atC>atT p.I225I GABRA2_ENST00000540012.1_Silent_p.I170I|GABRA2_ENST00000514090.1_Silent_p.I225I|GABRA2_ENST00000356504.1_Silent_p.I225I|GABRA2_ENST00000381620.4_Silent_p.I225I|GABRA2_ENST00000515082.1_Silent_p.I225I|GABRA2_ENST00000507069.1_Silent_p.I225I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 225 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTCCTTTCCGATTGATTGGC 0.383000 4 27 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18121490 18121490 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:18121490C>T ENST00000222250.4 + 7 1265 c.1122C>T c.(1120-1122)ttC>ttT p.F374F ARRDC2_ENST00000379656.2_Silent_p.F369F NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 374 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 GCCCGTTCTTCGCCTACATCC 0.642000 5 73 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320676 52320676 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:52320676C>T ENST00000356297.4 - 17 3608 c.3508G>A c.(3508-3510)Gat>Aat p.D1170N PXDNL_ENST00000543296.1_Missense_Mutation_p.D1170N NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1170 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TTTTGAAGATCCTCAAAGTTC 0.373000 4 48 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678517 37678517 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:37678517C>T ENST00000379800.3 - 1 1286 c.877G>A c.(877-879)Gac>Aac p.D293N NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 293 Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AATGTGTAGTCATATTGGTGG 0.512000 8 73 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104874042 104874042 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:104874042G>A ENST00000393141.2 - 4 572 c.541C>T c.(541-543)Cgt>Tgt p.R181C CASP5_ENST00000418434.1_Missense_Mutation_p.R26C|CASP5_ENST00000531367.1_Missense_Mutation_p.R26C|CASP5_ENST00000526056.1_Missense_Mutation_p.R181C|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000260315.3_Missense_Mutation_p.R168C|CASP5_ENST00000444749.2_Missense_Mutation_p.R110C NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 168 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AATTCTTCACGAGGACAAAGT 0.383000 19 98 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41561099 41561099 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:41561099C>T ENST00000400454.1 - 12 2900 c.2423G>A c.(2422-2424)aGc>aAc p.S808N NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 808 Ig-like C2-type 9. 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) CGCCGTGCAGCTCATCTCCTT 0.507000 19 78 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54327202 54327202 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54327202G>A ENST00000324134.6 - 1 395 c.227C>T c.(226-228)aCc>aTc p.T76I NLRP12_ENST00000391775.3_Missense_Mutation_p.T76I|NLRP12_ENST00000354278.3_Missense_Mutation_p.T76I|NLRP12_ENST00000345770.5_Missense_Mutation_p.T76I|NLRP12_ENST00000391772.1_Missense_Mutation_p.T76I|NLRP12_ENST00000351894.4_Missense_Mutation_p.T76I|NLRP12_ENST00000391773.1_Missense_Mutation_p.T76I|NLRP12_ENST00000535162.1_Missense_Mutation_p.T76I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 76 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CCGCTCAAAGGTGCTGAGAGC 0.612000 9 137 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810973 123810973 + Missense_Mutation SNP C C T rs138187932 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123810973C>T ENST00000307033.2 + 1 724 c.650C>T c.(649-651)tCg>tTg p.S217L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 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;0.0399) CTTCTGGGATCGTACACAGCA 0.517000 10 158 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2841187 2841187 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2841187C>T ENST00000380445.3 + 5 534 c.462C>T c.(460-462)acC>acT p.T154T VPS16_ENST00000380469.3_Silent_p.T154T NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 154 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 ACCGCTTCACCCTCAGTGCCA 0.592000 5 45 0 0 1 0 0 LY6G6C 80740 broad.mit.edu 37 6 31687068 31687068 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31687068G>A ENST00000375819.2 - 3 348 c.183C>T c.(181-183)tcC>tcT p.S61S LY6G6C_ENST00000495859.1_Silent_p.S5S NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C 61 UPAR/Ly6. anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 AGCGCAGATTGGAGAAAACCC 0.587000 4 93 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158494544 158494544 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:158494544A>G ENST00000409339.3 - 2 160 c.47T>C c.(46-48)gTt>gCt p.V16A NCAPG2_ENST00000409423.1_Missense_Mutation_p.V16A|NCAPG2_ENST00000449727.2_Missense_Mutation_p.V16A|NCAPG2_ENST00000356309.3_Missense_Mutation_p.V16A Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 16 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) AAACTCTCCAACCAGCTCCTT 0.343000 6 86 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382583 22382583 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:22382583C>T ENST00000328795.4 + 1 202 c.111C>T c.(109-111)atC>atT p.I37I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTACCTTATCATCCTCCCTG 0.433000 29 265 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132045206 132045206 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:132045206G>A ENST00000414305.1 + 20 2101 c.1773G>A c.(1771-1773)caG>caA p.Q591Q ENPP3_ENST00000357639.3_Silent_p.Q591Q|ENPP3_ENST00000358229.5_Silent_p.Q591Q O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 591 immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AAGTGAATCAGATGCTAAATC 0.373000 12 31 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378313 31378313 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:31378313C>A ENST00000297142.3 - 2 892 c.570G>T c.(568-570)atG>atT p.M190I NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 190 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CACCCTGACCCATCAGGAAAC 0.562000 7 73 5.18039e-06 5.2242e-06 1 1 0 LUM 4060 broad.mit.edu 37 12 91502729 91502729 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:91502729G>A ENST00000266718.4 - 2 482 c.28C>T c.(28-30)Ctg>Ttg p.L10L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 10 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 ATCAATGCCAGGAAGAGAGTA 0.333000 4 39 0 0 1 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364228 142364228 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142364228C>T ENST00000390397.2 + 0 31 CCTGCCTCTTCATGCCATGGC 0.498000 3 13 0 0 1 0 0 MDFI 4188 broad.mit.edu 37 6 41621285 41621285 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:41621285A>G ENST00000373050.4 + 4 717 c.530A>G c.(529-531)gAg>gGg p.E177G Q99750 MDFI_HUMAN MyoD family inhibitor 238 Cys-rich. cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ATCTGCATGGAGTGCTGTGGG 0.677000 9 137 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17542914 17542914 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:17542914C>T ENST00000005226.7 - 13 1063 c.1064G>A c.(1063-1065)aGa>aAa p.R355K USH1C_ENST00000527720.1_Missense_Mutation_p.R324K|USH1C_ENST00000527020.1_Missense_Mutation_p.R336K|USH1C_ENST00000318024.4_Missense_Mutation_p.R355K NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 355 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTTCCGGTATCTCTCATTTTC 0.502000 14 165 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218268 130218268 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130218268C>T ENST00000276211.5 + 5 980 c.635C>T c.(634-636)tCc>tTc p.S212F ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S76F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S200F NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 212 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.S212F(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCAAAAATTTCCTTTCCAATT 0.498000 11 21 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003608 50003608 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:50003608C>T ENST00000335238.4 - 1 463 c.430G>A c.(430-432)Gca>Aca p.A144T NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 CAGGCCACTGCCACCAGGAGA 0.512000 30 182 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110968173 110968173 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:110968173C>T ENST00000394780.3 + 15 1625 c.1613C>T c.(1612-1614)cCa>cTa p.P538L ALG13_ENST00000251943.4_Missense_Mutation_p.P434L NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 538 Tudor. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CATGTTGTTCCACTGGCTAAC 0.433000 22 48 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132535265 132535265 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:132535265G>A ENST00000265342.7 - 16 2300 c.2051C>T c.(2050-2052)cCc>cTc p.P684L CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 684 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCACCATTGGGGCCAAGCAC 0.617000 4 73 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 69871315 69871315 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:69871315C>T ENST00000395889.2 - 18 1668 c.1513G>A c.(1513-1515)Ggc>Agc p.G505S TEX11_ENST00000344304.3_Missense_Mutation_p.G505S|TEX11_ENST00000374333.2_Missense_Mutation_p.G490S|TEX11_ENST00000374320.2_Missense_Mutation_p.G180S NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 505 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCAGAGTTGCCCTCTATGACT 0.353000 7 16 0 0 1 0 0 ELOVL4 6785 broad.mit.edu 37 6 80631488 80631488 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:80631488A>T ENST00000369816.4 - 4 695 c.395T>A c.(394-396)tTt>tAt p.F132Y NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 132 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) TTTAGATACAAAGTACCACCA 0.358000 5 35 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111099079 111099079 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:111099079C>T ENST00000356742.5 - 3 949 c.196G>A c.(196-198)Gaa>Aaa p.E66K HVCN1_ENST00000242607.8_Missense_Mutation_p.E66K|HVCN1_ENST00000439744.2_Missense_Mutation_p.E46K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E66K Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 66 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GCTCTGCCTTCCTCGCCTGAG 0.607000 7 52 0 0 1 0 0 C6orf201 404220 broad.mit.edu 37 6 4099316 4099316 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:4099316G>A ENST00000380175.4 + 3 933 c.168G>A c.(166-168)ccG>ccA p.P56P C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.P59P|C6orf201_ENST00000430835.2_Silent_p.P56P NM_001085401.2 NP_001078870.1 Q7Z4U5 CF201_HUMAN chromosome 6 open reading frame 201 56 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCCCAAAGCCGAACAGAATGC 0.418000 14 61 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77797366 77797366 + Silent SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:77797366T>G ENST00000354212.4 - 15 2716 c.2463A>C c.(2461-2463)ccA>ccC p.P821P MAGI2_ENST00000419488.1_Silent_p.P807P|MAGI2_ENST00000522391.1_Silent_p.P821P NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 821 PDZ 4. 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) GCTCATCTCCTGGGTGAAGGC 0.522000 24 78 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382280 41382280 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:41382280G>A ENST00000377801.3 - 2 534 c.460C>T c.(460-462)Cac>Tac p.H154Y PLCXD3_ENST00000328457.3_Missense_Mutation_p.H154Y Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 154 PI-PLC X-box. 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 TTTTCATGGTGATATTTCTGC 0.413000 15 154 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179457754 179457754 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179457754C>T ENST00000589042.1 - 300 59316 c.59092G>A c.(59092-59094)Gat>Aat p.D19698N TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18057N|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18057 Fibronectin type-III 42. 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) CAAGTTAGATCGACTGAATTG 0.393000 10 94 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037670 75037670 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:75037670C>T ENST00000326665.5 - 14 3942 c.3724G>A c.(3724-3726)Gag>Aag p.E1242K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1242 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 GCTGCTAGCTCCTCTGCCTGG 0.627000 20 87 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175392 51175392 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:51175392G>A ENST00000440970.1 - 2 881 c.450C>T c.(448-450)atC>atT p.I150I SALL1_ENST00000251020.4_Silent_p.I247I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 247 Poly-Ser. Missing.|S -> SS. 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 p.I247I(1) 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) GAATCTGTTCGATCAATTGCA 0.542000 12 102 0 0 1 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271330 26271330 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:26271330C>T ENST00000305910.3 - 1 282 c.283G>A c.(283-285)Gag>Aag p.E95K NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 95 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 TCGCAGGCCTCCTGCAGGGCC 0.567000 9 141 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21236260 21236260 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21236260G>A ENST00000233242.1 - 25 4115 c.3988C>T c.(3988-3990)Ctg>Ttg p.L1330L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1330 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGAGATGGCAGATGGAATCCC 0.473000 7 91 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413431 124413431 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:124413431C>T ENST00000306842.2 - 1 144 c.120G>A c.(118-120)ggG>ggA p.G40G NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGCCCAGGTTCCCCACCACGG 0.502000 12 53 0 0 1 0 0 VN1R4 317703 broad.mit.edu 37 19 53770889 53770889 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53770889C>T ENST00000311170.4 - 1 83 c.30G>A c.(28-30)atG>atA p.M10I NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 10 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) GTGATAAGATCATTCCCACTG 0.517000 HNSCC(26;0.072) 12 74 0 0 1 0 0 EMC10 284361 broad.mit.edu 37 19 50984165 50984165 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50984165G>A ENST00000376918.3 + 6 655 c.609G>A c.(607-609)gaG>gaA p.E203E CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Silent_p.E203E|EMC10_ENST00000598585.1_Silent_p.E203E NM_175063.4 NP_778233.4 ER membrane protein complex subunit 10 CCTTCATTGAGCGCCTGGAGA 0.652000 11 53 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46107323 46107323 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46107323G>A ENST00000321037.4 + 2 233 c.3G>A c.(1-3)atG>atA p.M1I NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 1 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TGTTCATTATGAAGTTATTAG 0.318000 20 29 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48346753C>T ENST00000319856.4 + 1 282 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 7 88 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61225600 61225600 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61225600G>A ENST00000382768.1 + 2 184 c.184G>A c.(184-186)Gaa>Aaa p.E62K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E62K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 62 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 ACACTTCAACGAATTTTCCCA 0.418000 18 81 0 0 1 0 0 TTC22 55001 broad.mit.edu 37 1 55266738 55266738 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:55266738G>A ENST00000371276.4 - 1 202 c.99C>T c.(97-99)ttC>ttT p.F33F TTC22_ENST00000371274.4_Silent_p.F33F NM_001114108.1 NP_001107580.1 Q5TAA0 TTC22_HUMAN tetratricopeptide repeat domain 22 33 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 AGCGCGGCTCGAAGTTCAACT 0.706000 12 42 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6377611 6377611 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:6377611C>T ENST00000335585.5 - 4 405 c.382G>A c.(382-384)Gaa>Aaa p.E128K PPP2R2C_ENST00000515571.1_Missense_Mutation_p.E111K|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.E121K|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.E128K|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.E121K NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 128 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity p.E128K(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TTGTATCCTTCGGGCCTTTTA 0.463000 28 89 0 0 1 0 0 ACER3 55331 broad.mit.edu 37 11 76701612 76701612 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:76701612C>T ENST00000532485.1 + 6 536 c.432C>T c.(430-432)ttC>ttT p.F144F ACER3_ENST00000526597.1_Silent_p.F49F|ACER3_ENST00000533873.1_Silent_p.F107F|ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000538157.1_Silent_p.F102F NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 144 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 AGCCGATATTCCATCAGGTAA 0.318000 16 99 0 0 1 0 0 MAN1C1 57134 broad.mit.edu 37 1 26098178 26098178 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:26098178G>A ENST00000374332.4 + 8 1502 c.1172G>A c.(1171-1173)aGt>aAt p.S391N MAN1C1_ENST00000374329.1_Missense_Mutation_p.S162N|MAN1C1_ENST00000263979.3_Missense_Mutation_p.S211N NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 391 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CTCGGGGACAGTTTTTATGAA 0.498000 14 109 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50208263 50208263 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50208263G>A ENST00000392518.4 + 9 1143 c.e9-1 CPT1C_ENST00000598293.1_Splice_Site|CPT1C_ENST00000405931.2_Intron|CPT1C_ENST00000323446.5_Splice_Site|CPT1C_ENST00000354199.5_Splice_Site NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTGGTCCCCAGGACTTCCTGT 0.622000 11 38 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37515009 37515009 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:37515009A>G ENST00000378621.3 + 2 944 c.642A>G c.(640-642)atA>atG p.I214M LANCL3_ENST00000378619.3_Missense_Mutation_p.I214M|TM4SF2_ENST00000465127.1_Intron NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 214 catalytic activity lung(4)|pancreas(1) 5 AGTATGCCATAAAGAAGAGGA 0.443000 13 20 0 0 1 0 0 ANKLE2 23141 broad.mit.edu 37 12 133313584 133313584 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:133313584G>A ENST00000539605.1 - 7 7986 c.1302C>T c.(1300-1302)tcC>tcT p.S434S ANKLE2_ENST00000357997.5_Silent_p.S496S|ANKLE2_ENST00000337516.5_Silent_p.S496S Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 496 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TCTGGTCTGGGGACCACAGCT 0.642000 7 81 0 0 1 0 0 HCN2 610 broad.mit.edu 37 19 603796 603796 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:603796C>T ENST00000251287.2 + 2 938 c.885C>T c.(883-885)ttC>ttT p.F295F NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 295 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGGTGGACTTCGTGTCCTCCA 0.567000 6 40 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75517458 75517458 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:75517458C>T ENST00000318622.4 + 5 1092 c.463C>T c.(463-465)Ccg>Tcg p.P155S RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000006777.6_Missense_Mutation_p.P296S|RHBDD2_ENST00000428119.1_Missense_Mutation_p.P155S NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 296 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 CACCTTGCCTCCGTACCAGCC 0.662000 16 161 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19813439 19813439 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:19813439C>T ENST00000311322.8 + 6 1333 c.863C>T c.(862-864)gCc>gTc p.A288V NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 288 A -> T (associated with LPL deficiency; the LPL mass level is approximately 67% of the normal; the activity is 32% of the nornal; dbSNP:rs1800011). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CCAAGTAAGGCCTACAGGTGC 0.463000 8 87 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809342 48809342 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:48809342G>A ENST00000309835.3 + 1 1580 c.1570G>A c.(1570-1572)Gat>Aat p.D524N STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D524N|STON1_ENST00000406226.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D524N|STON1_ENST00000404752.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.D524N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D524N stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTATAATGGGGATAATCTTCC 0.443000 19 83 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216258 20216258 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20216258C>T ENST00000331723.1 + 1 672 c.672C>T c.(670-672)atC>atT p.I224I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCATCCTGATCACCCTGAGAA 0.498000 10 105 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27640069 27640069 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:27640069C>T ENST00000261588.4 + 4 247 c.228C>T c.(226-228)gcC>gcT p.A76A NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 76 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TCAACGGTGCCAATTCGGAGC 0.512000 13 131 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141113970 141113970 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:141113970G>A ENST00000389484.3 - 75 12442 c.11471C>T c.(11470-11472)tCt>tTt p.S3824F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3824 EGF-like 8. 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) ACAGAAAACAGATGTTTTTAT 0.338000 TSP Lung(27;0.18) 11 46 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193052803 193052803 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:193052803C>T ENST00000342358.4 - 10 1146 c.1029G>A c.(1027-1029)agG>agA p.R343R NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 343 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGACGTGTTTCCTATAATCCT 0.463000 20 92 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207408038 207408038 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:207408038G>A ENST00000264377.3 + 6 1046 c.718G>A c.(718-720)Gag>Aag p.E240K ADAM23_ENST00000374416.1_Missense_Mutation_p.E240K|ADAM23_ENST00000374415.3_Missense_Mutation_p.E240K NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 240 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GGTTCATGATGAGGTGAGTCT 0.418000 5 36 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983739 97983739 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:97983739C>T ENST00000383696.2 + 1 652 c.611C>T c.(610-612)tCc>tTc p.S204F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTAAAGATTTCCTGTACTGAT 0.299000 4 20 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96741069 96741069 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:96741069C>T ENST00000260682.6 + 7 1103 c.1091C>T c.(1090-1092)aCc>aTc p.T364I NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 364 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CTTCTCCCCACCAGCCTGCCC 0.502000 25 116 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371073 240371073 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:240371073C>T ENST00000319653.9 + 5 3191 c.2961C>T c.(2959-2961)ccC>ccT p.P987P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 987 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGGCATACCCCCTCCTCCCC 0.716000 9 23 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536468 1536468 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:1536468G>A ENST00000440447.2 - 3 535 c.464C>T c.(463-465)tCc>tTc p.S155F PTX4_ENST00000447419.2_Silent_p.V303V|PTX4_ENST00000293922.1_Silent_p.V298V Q96A99 PTX4_HUMAN pentraxin 4, long 241 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 AGGCCGTGCGGACCCAGCTGC 0.662000 4 66 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39881163 39881163 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:39881163G>A ENST00000260356.5 + 11 1814 c.1649G>A c.(1648-1650)gGa>gAa p.G550E NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 550 EGF-like 1. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GTCTCAGATGGATGCCTGTCC 0.502000 38 206 0 0 1 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580813 234580813 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234580813C>T ENST00000354728.4 + 1 315 c.233C>T c.(232-234)tCa>tTa p.S78L UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) AAGACTTATTCAACTTCATAT 0.458000 11 94 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113554885 113554885 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:113554885C>T ENST00000546530.1 - 9 1009 c.724G>A c.(724-726)Gat>Aat p.D242N RASAL1_ENST00000548055.1_Missense_Mutation_p.D242N|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.D242N|RASAL1_ENST00000261729.5_Missense_Mutation_p.D242N NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 242 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TACCCAGAATCCTCCTCGGCT 0.602000 4 41 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112903485 112903485 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:112903485G>A ENST00000161863.4 + 23 3396 c.3183G>A c.(3181-3183)ttG>ttA p.L1061L NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1061 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) TCACTATATTGGTATTCTGTG 0.378000 7 55 0 0 1 0 0 ALKBH3 221120 broad.mit.edu 37 11 43923211 43923211 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:43923211C>T ENST00000302708.4 + 8 1016 c.605C>T c.(604-606)cCc>cTc p.P202L ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 202 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) GGGAGGTGCCCCATTATTGCT 0.478000 Direct reversal of damage 7 37 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938027 12938027 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:12938027C>T ENST00000218032.6 + 2 955 c.868C>T c.(868-870)Cga>Tga p.R290* TLR8_ENST00000311912.5_Nonsense_Mutation_p.R308* NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 290 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GACCCAACTTCGATACCTAAA 0.423000 12 45 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1049337 1049337 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:1049337G>A ENST00000263094.6 + 18 2684 c.2453G>A c.(2452-2454)gGa>gAa p.G818E ABCA7_ENST00000433129.1_Missense_Mutation_p.G818E|ABCA7_ENST00000435683.2_Missense_Mutation_p.G680E NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 818 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 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) CGCTTTCCTGGAAGCCCGCAG 0.672000 12 92 0 0 1 0 0 DOHH 83475 broad.mit.edu 37 19 3496711 3496711 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3496711G>A ENST00000427575.1 - 2 553 c.102C>T c.(100-102)ctC>ctT p.L34L DOHH_ENST00000250937.3_Silent_p.L34L NM_001145165.1 NP_001138637.1 Q9BU89 DOHH_HUMAN deoxyhypusine hydroxylase/monooxygenase 34 peptidyl-lysine modification to hypusine|post-translational protein modification cytosol deoxyhypusine monooxygenase activity|metal ion binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGCCGCCGAGCCCACGCA 0.677000 6 35 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631620 141631620 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141631620G>A ENST00000546910.1 - 6 548 c.352C>T c.(352-354)Ctt>Ttt p.L118F CLEC5A_ENST00000551012.2_Missense_Mutation_p.L95F|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.L14F|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.L95F NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 118 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity p.L118V(1) endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) ATGTCCTGAAGAAACTTCTGG 0.373000 12 83 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55979474 55979474 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:55979474G>A ENST00000263923.4 - 7 1268 c.973C>T c.(973-975)Cat>Tat p.H325Y NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 325 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGCTTACCATGGACCCTGACA 0.403000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 8 62 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 12990024 12990024 + Missense_Mutation SNP G G A rs112329671 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:12990024G>A ENST00000399002.2 + 1 383 c.109G>A c.(109-111)Gaa>Aaa p.E37K SPTLC3_ENST00000378194.4_Missense_Mutation_p.E37K|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 37 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) AATAGTGAAGGAAGCCCAGGT 0.443000 7 46 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163483254 163483254 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:163483254C>T ENST00000337019.3 + 4 588 c.364C>T c.(364-366)Ccc>Tcc p.P122S PACRG_ENST00000366889.2_Missense_Mutation_p.P122S|PACRG_ENST00000366888.2_Missense_Mutation_p.P122S NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 122 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) AATGACATTTCCCTATGAGTT 0.428000 8 50 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131271333 131271333 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:131271333G>A ENST00000512055.1 - 17 3245 c.1119C>T c.(1117-1119)gtC>gtT p.V373V CPNE4_ENST00000502818.1_Silent_p.V391V|CPNE4_ENST00000429747.1_Silent_p.V373V|CPNE4_ENST00000511604.1_Silent_p.V373V|CPNE4_ENST00000512332.1_Silent_p.V391V Q96A23 CPNE4_HUMAN copine IV 373 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 AGTCATGAGAGACCTAGACAC 0.398000 6 55 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207785044 207785044 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:207785044C>T ENST00000367049.4 + 38 6318 c.6318C>T c.(6316-6318)atC>atT p.I2106I CR1_ENST00000367051.1_Silent_p.I1656I|CR1_ENST00000367052.1_Silent_p.I1656I|CR1_ENST00000367053.1_Silent_p.I1656I|CR1_ENST00000400960.2_Silent_p.I1656I NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1656 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTCCAGAAATCCTGCATGGTG 0.507000 5 87 0 0 1 0 0 OR2J3 442186 broad.mit.edu 37 6 29080476 29080476 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29080476C>T ENST00000377169.1 + 1 809 c.809C>T c.(808-810)tCt>tTt p.S270F NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 TCAGGAAATTCTCAAGATCAA 0.433000 20 76 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23381724 23381724 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:23381724C>T ENST00000258729.3 - 10 1518 c.1162G>A c.(1162-1164)Ggg>Agg p.G388R NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 388 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GAAGGGGGCCCTGAGGTGGGA 0.483000 5 19 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092003 143092003 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:143092003C>G ENST00000367603.2 - 5 4615 c.3873G>C c.(3871-3873)aaG>aaC p.K1291N HIVEP2_ENST00000367604.1_Missense_Mutation_p.K1291N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K1291N NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GAAGAAGGTTCTTTGGGTGTA 0.488000 27 273 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137680718 137680718 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:137680718C>T ENST00000239906.5 + 4 769 c.341C>T c.(340-342)tCc>tTc p.S114F FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.S114F NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 114 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCCCCTCCATCCAAGAGGCAC 0.652000 10 74 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39888629 39888629 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39888629C>T ENST00000393939.2 - 3 576 c.567G>A c.(565-567)tgG>tgA p.W189* HAP1_ENST00000341193.5_Nonsense_Mutation_p.W197*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.W189*|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.W189* P54257 HAP1_HUMAN huntingtin-associated protein 1 189 HAP1 N-terminal. Missing (in Ref. 6; CAB82785). brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TAACGCTCTCCCAGACAGGTG 0.577000 6 19 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368751 37368751 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:37368751A>G ENST00000529555.1 + 2 1807 c.1019A>G c.(1018-1020)aAa>aGa p.K340R ZNF345_ENST00000420450.1_Missense_Mutation_p.K340R|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.K340R Q14585 ZN345_HUMAN zinc finger protein 345 340 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTGGAGAGAAACCTTATGAA 0.393000 11 57 0 0 1 0 0 AZU1 566 broad.mit.edu 37 19 828343 828343 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:828343C>T ENST00000233997.2 + 2 193 c.172C>T c.(172-174)Cat>Tat p.H58Y NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 58 Hydrophobic.|Peptidase S1.|Possesses antibiotic activity. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding p.H58Y(1) NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCCCTGATCCATGCCCGCTT 0.657000 13 94 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109378609 109378609 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:109378609C>T ENST00000283195.6 + 19 2781 c.2655C>T c.(2653-2655)tcC>tcT p.S885S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 885 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 CATATAATTCCCAGTATCTTC 0.303000 7 83 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14038072 14038072 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:14038072C>T ENST00000318003.7 + 22 2551 c.2310C>T c.(2308-2310)atC>atT p.I770I CC2D1A_ENST00000589606.1_Silent_p.I770I NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 770 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TCCGGGAGATCCTTGAGGTGA 0.547000 12 64 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179635952 179635952 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179635952T>C ENST00000589042.1 - 34 8326 c.8102A>G c.(8101-8103)aAa>aGa p.K2701R TTN_ENST00000460472.2_Missense_Mutation_p.K2655R|TTN_ENST00000359218.5_Missense_Mutation_p.K2655R|TTN_ENST00000591111.1_Missense_Mutation_p.K2701R|TTN_ENST00000360870.5_Missense_Mutation_p.K2701R|TTN_ENST00000342175.6_Missense_Mutation_p.K2655R|TTN_ENST00000342992.6_Missense_Mutation_p.K2701R|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2439 Ig-like 15. 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) AACTTTGAGTTTGGCAGATGT 0.383000 8 31 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017809 101017809 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:101017809T>C ENST00000537247.1 + 10 1868 c.914T>C c.(913-915)tTa>tCa p.L305S GAS2L3_ENST00000266754.5_Missense_Mutation_p.L409S|GAS2L3_ENST00000539410.1_Missense_Mutation_p.L409S|GAS2L3_ENST00000547754.1_Missense_Mutation_p.L409S Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 409 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CTTGCTTCATTAAATCCAGTA 0.433000 11 63 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211898 72211898 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:72211898G>A ENST00000340726.3 - 8 1253 c.614C>T c.(613-615)tCc>tTc p.S205F EYA1_ENST00000388740.3_Missense_Mutation_p.S172F|EYA1_ENST00000303824.7_Missense_Mutation_p.S199F|EYA1_ENST00000388741.2_Missense_Mutation_p.S171F|EYA1_ENST00000388743.2_Missense_Mutation_p.S204F|EYA1_ENST00000419131.1_Missense_Mutation_p.S200F|EYA1_ENST00000388742.4_Missense_Mutation_p.S205F NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 205 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AAATCCAGAGGAATTTGTGAG 0.299000 8 79 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275625 5275625 + Missense_Mutation SNP G G A rs151258456 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5275625G>A ENST00000380259.2 - 7 1452 c.212C>T c.(211-213)tCc>tTc p.S71F HBG2_ENST00000336906.4_Missense_Mutation_p.S71F|HBG2_ENST00000380252.1_Missense_Mutation_p.S61F hemoglobin, gamma G p.S71F(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTCCCAAGGAAGTCAGCAC 0.532000 16 147 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56424543 56424543 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56424543C>T ENST00000588751.1 - 5 664 c.640G>A c.(640-642)Gaa>Aaa p.E214K NLRP13_ENST00000342929.3_Missense_Mutation_p.E214K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 214 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CGCTGCAGTTCCTCATGTTCG 0.512000 29 122 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517797 158517797 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158517797G>A ENST00000302617.3 - 1 98 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGAAAATGGAGAAAAAGAGAA 0.443000 12 35 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67220152 67220152 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:67220152C>T ENST00000312457.2 - 1 48 c.44G>A c.(43-45)aGg>aAg p.R15K CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 15 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TGTGCGGGGCCTGTGGCCAGT 0.622000 14 32 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46830729 46830729 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46830729G>A ENST00000283296.7 - 15 2383 c.2095C>T c.(2095-2097)Ccc>Tcc p.P699S GPR116_ENST00000362015.4_Missense_Mutation_p.P699S|GPR116_ENST00000265417.7_Missense_Mutation_p.P699S|GPR116_ENST00000545669.1_Missense_Mutation_p.P128S|GPR116_ENST00000456426.2_Missense_Mutation_p.P557S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 699 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CCGCCAATGGGACTCTCAGGG 0.532000 15 111 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2908511 2908511 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:2908511G>A ENST00000397461.1 + 7 914 c.530G>A c.(529-531)gGg>gAg p.G177E CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.G177E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G177E NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 177 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAAGAGACTGGGAATCTGTAT 0.418000 12 65 0 0 1 0 0 HLA-DRB1 3123 broad.mit.edu 37 6 32549415 32549415 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32549415C>T ENST00000360004.5 - 3 676 c.571G>A c.(571-573)Gaa>Aaa p.E191K NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 GGAACTGTTTCCAGCATCACC 0.552000 Multiple Myeloma(14;0.17) 5 177 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196887467 196887467 + Silent SNP G G A rs12757817 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196887467G>A ENST00000367416.2 + 10 1802 c.1665G>A c.(1663-1665)gcG>gcA p.A555A CFHR4_ENST00000367418.1_Silent_p.A309A|CFHR4_ENST00000251424.4_Silent_p.A309A|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GATATAATGCGAATACATCAG 0.338000 15 83 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57453716 57453716 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:57453716C>T ENST00000300128.4 - 9 1304 c.1281G>A c.(1279-1281)gaG>gaA p.E427E TMEM194A_ENST00000379391.3_Silent_p.E354E NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 427 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 ATGAGTCCTCCTCCTCAGAGG 0.483000 3 25 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111215758 111215758 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:111215758C>T ENST00000369769.2 - 1 1897 c.1674G>A c.(1672-1674)acG>acA p.T558T NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 558 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GATTATTGTTCGTGGTGCAGG 0.458000 25 92 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39503970 39503970 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:39503970C>T ENST00000518318.2 + 10 1695 c.1653C>T c.(1651-1653)gcC>gcT p.A551A POU6F2_ENST00000403058.1_Silent_p.A587A|POU6F2_ENST00000559001.1_Silent_p.A532A P78424 PO6F2_HUMAN POU class 6 homeobox 2 587 POU-specific. 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 AGGCTGAGGCCCGCCATCGAG 0.567000 7 38 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378441 31378441 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:31378441C>T ENST00000297142.3 - 2 764 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 148 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CTCAGAATTTCAGAAAGTGCC 0.438000 6 79 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52546963 52546963 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:52546963G>A ENST00000321725.6 + 29 3223 c.3147G>A c.(3145-3147)ccG>ccA p.P1049P NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1049 FAS1 3. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGACGCTGCCGAACCTGGTCA 0.692000 3 24 0 0 1 0 0 SCUBE3 222663 broad.mit.edu 37 6 35200630 35200630 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:35200630G>A ENST00000274938.7 + 5 473 c.473G>A c.(472-474)gGa>gAa p.G158E SCUBE3_ENST00000394681.1_Missense_Mutation_p.G158E NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 158 EGF-like 4. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CTTTTAGAAGGAATGAATTGC 0.512000 8 117 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583296 7583296 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7583296G>A ENST00000379802.3 + 24 6142 c.5801G>A c.(5800-5802)cGa>cAa p.R1934Q DSP_ENST00000418664.2_Missense_Mutation_p.R1335Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1934 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAACGCTCCCGATATCAGAGG 0.517000 5 74 0 0 1 0 0 SPNS3 201305 broad.mit.edu 37 17 4348367 4348367 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:4348367C>T ENST00000355530.2 + 3 586 c.306C>T c.(304-306)ggC>ggT p.G102G SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 102 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 CTGTGTTTGGCTACCTGGGCG 0.617000 33 143 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389398 20389398 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20389398C>T ENST00000315915.4 + 1 658 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211L(1) 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) TAAGCACTTTCTCTCTCTTGG 0.423000 11 370 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 13993638 13993638 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:13993638C>T ENST00000454313.1 - 9 2042 c.1984G>A c.(1984-1986)Gac>Aac p.D662N C19orf57_ENST00000586783.1_Missense_Mutation_p.D662N|C19orf57_ENST00000346736.2_Missense_Mutation_p.D631N|C19orf57_ENST00000591586.1_Missense_Mutation_p.D237N Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 662 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CAGGGTGGGTCCCCTCGAGGG 0.602000 15 92 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816291 156816291 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156816291G>A ENST00000347377.6 + 29 3733 c.3302G>A c.(3301-3303)aGc>aAc p.S1101N CYFIP2_ENST00000541131.1_Missense_Mutation_p.S1026N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.S905N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.S1075N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.S1126N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.S800N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.S1101N NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1126 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGCATTCGGAGCTACCTGCAG 0.632000 5 28 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7891483 7891483 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:7891483A>G ENST00000264668.2 + 10 1438 c.e10-1 MTRR_ENST00000440940.2_Splice_Site NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) ATTTTTTTCTAGAACATCTTC 0.264000 12 29 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639119 179639119 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179639119G>A ENST00000589042.1 - 30 7096 c.6872C>T c.(6871-6873)tCc>tTc p.S2291F TTN_ENST00000460472.2_Missense_Mutation_p.S2245F|TTN_ENST00000359218.5_Missense_Mutation_p.S2245F|TTN_ENST00000591111.1_Missense_Mutation_p.S2291F|TTN_ENST00000360870.5_Missense_Mutation_p.S2291F|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2245F|TTN_ENST00000342992.6_Missense_Mutation_p.S2291F|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2015 Ig-like 12. 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) ATTTTCTGGGGATACAATGCA 0.378000 11 46 0 0 1 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161146959 161146959 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:161146959C>T ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 GCATCGTAATCAGGAGCCAGT 0.403000 5 107 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27216518 27216518 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:27216518C>T ENST00000361042.4 + 3 336 c.111C>T c.(109-111)atC>atT p.I37I WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Silent_p.I37I Q9UPY6 WASF3_HUMAN WAS protein family, member 3 37 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TTGCCGCTATCATACGCCAGC 0.428000 14 103 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273906 10273906 + Silent SNP G G A rs145961628 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:10273906G>A ENST00000396573.2 - 3 672 c.363C>T c.(361-363)ttC>ttT p.F121F GRIN2A_ENST00000330684.3_Silent_p.F121F|GRIN2A_ENST00000562109.1_Silent_p.F121F|GRIN2A_ENST00000396575.2_Silent_p.F121F|GRIN2A_ENST00000404927.2_Silent_p.F121F NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 121 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.F121L(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGATGGGGACGAAGGTGTGGG 0.602000 11 70 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19501774 19501774 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19501774C>T ENST00000396229.2 + 18 3380 c.2631C>T c.(2629-2631)tcC>tcT p.S877S TMC5_ENST00000564959.1_Silent_p.S560S|TMC5_ENST00000561503.1_Silent_p.S518S|TMC5_ENST00000542583.2_Silent_p.S877S|TMC5_ENST00000541464.1_Silent_p.S825S|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Silent_p.S631S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 877 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCATTCACTCCATCTACAGCT 0.478000 32 152 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568221 223568221 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:223568221G>A ENST00000366875.3 + 1 1507 c.1404G>A c.(1402-1404)aaG>aaA p.K468K NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 468 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GCCTGAGGAAGGAGCGGCAAC 0.617000 6 30 0 0 1 0 0 CA7 766 broad.mit.edu 37 16 66887393 66887393 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:66887393C>T ENST00000394069.3 + 7 1050 c.619C>T c.(619-621)Cgg>Tgg p.R207W CA7_ENST00000338437.2_Missense_Mutation_p.R263W NM_001014435.1 NP_001014435.1 P43166 CAH7_HUMAN carbonic anhydrase VII 263 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(1)|lung(4) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGCCTCCTTCCGGGCCTGAGC 0.597000 3 27 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41004340 41004340 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:41004340G>A ENST00000308423.2 + 1 1140 c.980G>A c.(979-981)gGa>gAa p.G327E NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 327 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AGTGTCCAGGGAAGTCGAGTG 0.587000 7 58 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31371685 31371685 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:31371685C>T ENST00000268296.4 + 8 883 c.762C>T c.(760-762)ctC>ctT p.L254L ITGAX_ENST00000562522.1_Silent_p.L254L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 254 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCAAAATTCTCATTGTCATCA 0.517000 17 105 0 0 1 0 0 CD7 924 broad.mit.edu 37 17 80274818 80274818 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:80274818C>T ENST00000584284.1 - 2 203 c.122G>A c.(121-123)gGa>gAa p.G41E CD7_ENST00000578509.1_5'UTR|CD7_ENST00000583376.1_5'UTR|CD7_ENST00000312648.3_Missense_Mutation_p.G41E P09564 CD7_HUMAN CD7 molecule 41 Ig-like. immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) GACGGAGGCTCCCACGGGGAC 0.627000 11 38 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28791710 28791710 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:28791710C>T ENST00000225719.4 + 21 4097 c.4021C>T c.(4021-4023)Cat>Tat p.H1341Y CPD_ENST00000543464.2_Missense_Mutation_p.H1094Y NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1341 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CAGGCAGCATCATGATGAGTA 0.448000 8 96 0 0 1 0 0 ZNF264 9422 broad.mit.edu 37 19 57723000 57723000 + Missense_Mutation SNP G G A rs61730302 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57723000G>A ENST00000263095.6 + 4 949 c.535G>A c.(535-537)Gga>Aga p.G179R ZNF264_ENST00000536056.1_Missense_Mutation_p.G179R NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) AGTCTCTCCAGGAGATAGAGT 0.453000 5 45 0 0 1 0 0 CYP3A5 1577 broad.mit.edu 37 7 99270295 99270295 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99270295C>T ENST00000343703.5 - 5 582 c.196G>A c.(196-198)Gaa>Aaa p.E66K CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.E76K|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E76K cytochrome P450, family 3, subfamily A, polypeptide 5 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) AGTTGACCTTCATACGTTCTG 0.473000 10 139 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41668603 41668603 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:41668603C>T ENST00000313860.7 + 16 2216 c.2162C>T c.(2161-2163)cCc>cTc p.P721L LIMCH1_ENST00000396595.3_Missense_Mutation_p.P567L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.P562L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.P562L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P1106L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.P555L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.P550L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.P721L|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000508501.1_Missense_Mutation_p.P721L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.P709L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.P555L NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 721 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TCTCCAGAACCCGAAGCAACG 0.393000 4 54 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29797363 29797363 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29797363G>A ENST00000428701.1 + 5 966 c.788G>A c.(787-789)gGa>gAa p.G263E HLA-G_ENST00000376818.3_Missense_Mutation_p.G171E|HLA-G_ENST00000360323.6_Missense_Mutation_p.G263E|HLA-G_ENST00000376828.2_Missense_Mutation_p.G268E|HLA-G_ENST00000376815.3_Intron NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 263 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 GCAGGGGATGGAACCTTCCAG 0.632000 27 110 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747244 10747244 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:10747244C>T ENST00000586078.1 + 15 1588 c.1479C>T c.(1477-1479)gcC>gcT p.A493A SLC44A2_ENST00000335757.5_Silent_p.A493A|SLC44A2_ENST00000407327.4_Silent_p.A491A NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 493 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) TCTTCTCTGCCTTTGGCCGGG 0.716000 5 48 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10419994 10419994 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:10419994C>T ENST00000397077.1 - 9 1583 c.1008G>A c.(1006-1008)aaG>aaA p.K336K ATP2B2_ENST00000343816.4_Silent_p.K367K|ATP2B2_ENST00000352432.4_Silent_p.K381K|ATP2B2_ENST00000383800.4_Silent_p.K336K|ATP2B2_ENST00000360273.2_Silent_p.K381K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 381 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGGACTTCTCCTTCTTGTGCA 0.647000 7 67 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100568928 100568928 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:100568928C>T ENST00000471714.1 - 17 1592 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K ABI3BP_ENST00000284322.5_Missense_Mutation_p.E446K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E495K Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 446 Pro-rich. 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 GTAAAGATTTCCAGTTTTTGA 0.378000 3 14 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19027857 19027857 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19027857G>A ENST00000421369.3 + 3 625 c.67G>A c.(67-69)Gag>Aag p.E23K TMC7_ENST00000304381.5_Missense_Mutation_p.E133K|TMC7_ENST00000569532.1_Missense_Mutation_p.E133K NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 133 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GAGGTTCCTAGAGAAGGCTCG 0.537000 7 45 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170201210 170201210 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:170201210G>A ENST00000231706.4 - 6 1323 c.1008C>T c.(1006-1008)ttC>ttT p.F336F CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 336 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGCCACTACGAATTTGGCAG 0.532000 OREG0015917 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 77 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58035195 58035195 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58035195G>A ENST00000395079.2 - 1 537 c.136C>T c.(136-138)Cta>Tta p.L46L NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) GATGTGCATAGACAGGTTTCT 0.478000 8 63 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104084292 104084292 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:104084292C>T ENST00000388887.2 + 30 3477 c.3273C>T c.(3271-3273)ttC>ttT p.F1091F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1091 FAS1 3. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGGCAACTTCCTTCACTTGG 0.403000 5 33 0 0 1 0 0 ST7 7982 broad.mit.edu 37 7 116759656 116759656 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:116759656C>G ENST00000265437.5 + 3 490 c.276C>G c.(274-276)ttC>ttG p.F92L ST7_ENST00000432298.1_Missense_Mutation_p.F46L|ST7_ENST00000393449.1_Missense_Mutation_p.F92L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000323984.3_Missense_Mutation_p.F92L|ST7_ENST00000393444.3_Missense_Mutation_p.F49L|ST7_ENST00000393447.4_Missense_Mutation_p.F49L|ST7_ENST00000465133.1_Missense_Mutation_p.F49L|ST7_ENST00000393446.2_Missense_Mutation_p.F92L|ST7-AS2_ENST00000442719.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000422922.1_Missense_Mutation_p.F46L|ST7_ENST00000393443.1_Missense_Mutation_p.F42L|ST7_ENST00000393451.3_Missense_Mutation_p.F92L|ST7-AS2_ENST00000432541.1_RNA NM_021908.2 NP_068708.1 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 92 integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1) 21 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GAACTTCATTCATTGAACAAG 0.413000 6 100 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144816504 144816504 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:144816504C>T ENST00000440491.2 + 5 637 c.637C>T c.(637-639)Cct>Tct p.P213S NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.P213S NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 AAAGGAAGTCCCTGAGGACTC 0.483000 11 221 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21042447 21042447 + Missense_Mutation SNP G G A rs146173789 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21042447G>A ENST00000261383.3 - 37 5358 c.5359C>T c.(5359-5361)Cgc>Tgc p.R1787C DNAH3_ENST00000415178.1_Missense_Mutation_p.R1787C NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1787 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCCACTTGCGATCATCAGAG 0.458000 6 62 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54435826 54435826 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:54435826G>A ENST00000545554.1 + 3 3016 c.3016G>A c.(3016-3018)Gta>Ata p.V1006I UNC13C_ENST00000260323.11_Missense_Mutation_p.V1006I|UNC13C_ENST00000537900.1_Missense_Mutation_p.V1006I Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1006 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) GGCTCGAATAGTAAGTGGCAA 0.393000 3 31 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188210 32188210 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32188210G>A ENST00000375023.3 - 6 1269 c.1131C>T c.(1129-1131)ttC>ttT p.F377F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 377 EGF-like 9; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.F377L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGAGGCAGGAGAAAGAGCCCA 0.607000 20 176 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108070694 108070694 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108070694A>C ENST00000357759.5 + 3 448 c.34A>C c.(34-36)Att>Ctt p.I12L HHLA2_ENST00000489514.2_Missense_Mutation_p.I12L|HHLA2_ENST00000467761.1_Missense_Mutation_p.I12L|HHLA2_ENST00000491820.1_Missense_Mutation_p.I12L|HHLA2_ENST00000467562.1_Missense_Mutation_p.H35P NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 12 integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TTTCTTCCTCATTCTCATAAC 0.358000 4 20 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108219036 108219036 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108219036C>T ENST00000273353.3 - 5 541 c.485G>A c.(484-486)gGg>gAg p.G162E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 162 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCGCCTCTTCCCTTTGTAGGC 0.473000 7 52 0 0 1 0 0 BIRC3 330 broad.mit.edu 37 11 102195416 102195416 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:102195416G>C ENST00000263464.3 + 2 2926 c.176G>C c.(175-177)gGt>gCt p.G59A BIRC3_ENST00000532808.1_Missense_Mutation_p.G59A NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 59 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) TATTACACTGGTGTGAATGAC 0.443000 T MALT1 MALT 13 99 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702598 27702598 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:27702598G>A ENST00000438700.3 - 1 699 c.582C>T c.(580-582)tcC>tcT p.S194S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 194 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 AGAAGCGGTAGGAGTCGTTGG 0.612000 28 137 0 0 1 0 0 DLX4 1748 broad.mit.edu 37 17 48050372 48050372 + Translation_Start_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48050372G>A ENST00000411890.2 + 1 243 c.3G>A c.(1-3)atG>atA p.M1I DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron NM_001934.3 NP_001925.2 Q92988 DLX4_HUMAN distal-less homeobox 4 0 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 ATAAGCTTATGAAACTGTCCG 0.632000 4 49 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149500563 149500563 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:149500563G>A ENST00000378016.2 + 0 7964 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATACTCCCAGGATGCCGCTGT 0.677000 16 31 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48695653 48695653 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48695653C>T ENST00000352832.5 + 30 5646 c.5274C>T c.(5272-5274)ttC>ttT p.F1758F CACNA1G_ENST00000510366.1_Silent_p.F1740F|CACNA1G_ENST00000513964.1_Silent_p.F1747F|CACNA1G_ENST00000442258.2_Silent_p.F1751F|CACNA1G_ENST00000507510.2_Silent_p.F1792F|CACNA1G_ENST00000502264.1_Silent_p.F1769F|CACNA1G_ENST00000507336.1_Silent_p.F1781F|CACNA1G_ENST00000359106.5_Silent_p.F1792F|CACNA1G_ENST00000513689.2_Silent_p.F1747F|CACNA1G_ENST00000360761.4_Silent_p.F1769F|CACNA1G_ENST00000510115.1_Silent_p.F1758F|CACNA1G_ENST00000505165.1_Silent_p.F1792F|CACNA1G_ENST00000515165.1_Silent_p.F1792F|CACNA1G_ENST00000515765.1_Silent_p.F1781F|CACNA1G_ENST00000429973.2_Silent_p.F1774F|CACNA1G_ENST00000515411.1_Silent_p.F1774F|CACNA1G_ENST00000358244.5_Silent_p.F1758F|CACNA1G_ENST00000514717.1_Silent_p.F1735F|CACNA1G_ENST00000514181.1_Silent_p.F1767F|CACNA1G_ENST00000514079.1_Silent_p.F1799F|CACNA1G_ENST00000507896.1_Silent_p.F1781F|CACNA1G_ENST00000507609.1_Silent_p.F1785F|CACNA1G_ENST00000512389.1_Silent_p.F1781F|CACNA1G_ENST00000354983.4_Silent_p.F1758F|CACNA1G_ENST00000503485.1_Silent_p.F1758F 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 1792 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) GCATGGCCTTCCTAACCCTCT 0.607000 7 83 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531242 140531242 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140531242C>T ENST00000231136.1 + 1 1404 c.1404C>T c.(1402-1404)atC>atT p.I468I PCDHB6_ENST00000543635.1_Silent_p.I332I NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 468 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.I468I(1) 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) CCCTGCACATCGGCAGCGTCA 0.637000 14 160 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74060213 74060213 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:74060213C>T ENST00000307877.2 - 4 566 c.405G>A c.(403-405)tgG>tgA p.W135* SRP68_ENST00000355113.5_Nonsense_Mutation_p.W34*|SRP68_ENST00000539137.1_Nonsense_Mutation_p.W97* NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 135 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 TGGCGTAGCTCCAGGCTCTTT 0.493000 9 135 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36527669 36527669 + Silent SNP C C T rs150394259 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:36527669C>T ENST00000273183.3 + 5 915 c.615C>T c.(613-615)ttC>ttT p.F205F STAC_ENST00000457375.2_Silent_p.F144F|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 205 intracellular signal transduction cytoplasm|soluble fraction metal ion binding p.F205F(1) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CCCTCCGCTTCGGCACCTCCC 0.552000 19 179 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160221850 160221850 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:160221850C>T ENST00000275275.5 + 2 261 c.90C>T c.(88-90)ccC>ccT p.P30P PNLDC1_ENST00000392167.3_Silent_p.P41P NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 30 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TGTCTGGGCCCCAGCAGATCA 0.557000 13 113 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33144515 33144515 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:33144515C>T ENST00000341947.2 - 26 2325 c.2098G>A c.(2098-2100)Gga>Aga p.G700R COL11A2_ENST00000395197.1_Missense_Mutation_p.G640R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G593R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G619R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G614R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G674R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G679R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G653R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 700 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCTTTGGTTCCAGGGGGACCT 0.547000 4 14 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140866079 140866079 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:140866079C>T ENST00000310546.2 + 3 1534 c.790C>T c.(790-792)Cag>Tag p.Q264* SPSB4_ENST00000507895.1_3'UTR NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 264 SOCS box. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GCCCCTGCCTCAGTCTCTCAA 0.632000 11 44 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62954393 62954393 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:62954393C>T ENST00000393630.3 + 27 3926 c.3535C>T c.(3535-3537)Cct>Tct p.P1179S MON2_ENST00000393632.2_Missense_Mutation_p.P1178S|MON2_ENST00000393629.2_Missense_Mutation_p.P1178S|MON2_ENST00000546600.1_Missense_Mutation_p.P1178S|MON2_ENST00000280379.6_Missense_Mutation_p.P1179S|MON2_ENST00000552738.1_Missense_Mutation_p.P1155S NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1179 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) GATTGTGTCCCCTGTCAGAGA 0.448000 7 50 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60903024 60903024 + Silent SNP A A C rs143224228 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:60903024A>C ENST00000252999.3 - 36 4761 c.4695T>G c.(4693-4695)tcT>tcG p.S1565S NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1565 Laminin EGF-like 14. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAAGCCCGGAGAGCAGGTAT 0.672000 5 92 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108833269 108833269 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108833269G>A ENST00000232603.5 - 2 163 c.81C>T c.(79-81)ttC>ttT p.F27F MORC1_ENST00000483760.1_Silent_p.F27F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 27 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 CTCCAAAAAGGAAACTGTGAG 0.358000 7 17 0 0 1 0 0 PDIA6 10130 broad.mit.edu 37 2 10927495 10927495 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:10927495G>A ENST00000404371.2 - 13 1562 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S PDIA6_ENST00000381611.4_Missense_Mutation_p.P362S|PDIA6_ENST00000540494.1_Missense_Mutation_p.P354S|PDIA6_ENST00000272227.3_Missense_Mutation_p.P357S|PDIA6_ENST00000404824.2_Missense_Mutation_p.P405S Q15084 PDIA6_HUMAN protein disulfide isomerase family A, member 6 357 cell redox homeostasis|glycerol ether metabolic process|protein folding endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2) 18 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15) GCCATGGCGGGGTACCCAAAC 0.502000 8 71 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133073651 133073651 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:133073651C>T ENST00000326499.6 - 4 899 c.775G>A c.(775-777)Gga>Aga p.G259R VNN2_ENST00000525270.1_Missense_Mutation_p.G206R|VNN2_ENST00000525289.1_Intron NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 259 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AGATTAACTCCCATTCCCATT 0.413000 5 91 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42105143 42105143 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:42105143C>T ENST00000457542.2 + 8 949 c.663C>T c.(661-663)ggC>ggT p.G221G MAPKBP1_ENST00000456763.2_Silent_p.G221G|MAPKBP1_ENST00000221214.6_Silent_p.G221G|MAPKBP1_ENST00000260357.7_Silent_p.G109G|MAPKBP1_ENST00000514566.1_Silent_p.G221G NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 221 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCTTGCTGGGCCGCTCAGGGC 0.592000 10 61 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151393283 151393283 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151393283C>T ENST00000370314.4 - 6 824 c.586G>A c.(586-588)Gaa>Aaa p.E196K GABRA3_ENST00000535043.1_Missense_Mutation_p.E196K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E196K NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 196 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGAAAATCTTCCAAATGCATG 0.373000 11 59 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724071 7724071 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:7724071C>T ENST00000303635.7 + 9 1671 c.1464C>T c.(1462-1464)ttC>ttT p.F488F CAMTA1_ENST00000439411.2_Silent_p.F488F NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCGACTGTTTCCTTAATAACC 0.607000 T WWTR1 epitheliod hemangioendothelioma 10 139 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139912294 139912294 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:139912294G>A ENST00000265662.5 - 16 2303 c.2156C>T c.(2155-2157)tCc>tTc p.S719F ABCA2_ENST00000341511.6_Missense_Mutation_p.S719F|ABCA2_ENST00000371605.3_Missense_Mutation_p.S718F Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 718 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) CATGGCCACGGAGTAGACCCA 0.672000 7 30 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785810 12785810 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12785810G>A ENST00000332530.3 + 3 916 c.690G>A c.(688-690)aaG>aaA p.K230K AADACL3_ENST00000359318.5_Silent_p.K300K NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 300 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGTTGTACAAGAAAAGGCTGG 0.522000 11 101 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73012817 73012817 + Splice_Site SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:73012817A>T ENST00000261180.4 + 13 2429 c.2334_splice c.e13+1 p.N778_splice NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 778 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 AACATTTTCAATGTAAAAAGA 0.323000 5 36 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42936679 42936679 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42936679G>A ENST00000304611.8 - 6 1481 c.1412C>T c.(1411-1413)cCc>cTc p.P471L PEX6_ENST00000244546.4_Missense_Mutation_p.P471L NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 471 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) ACAGCCTGGGGGGCCCCGTAG 0.557000 9 107 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169131 50169131 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:50169131C>T ENST00000246785.3 + 1 309 c.51C>T c.(49-51)ttC>ttT p.F17F BCL2L12_ENST00000246784.3_Silent_p.F17F|BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 17 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTTGGGTTTCCGGCCAGAGG 0.572000 10 43 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49151470 49151470 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:49151470G>A ENST00000453664.1 - 17 2742 c.2424C>T c.(2422-2424)ctC>ctT p.L808L USP19_ENST00000398896.1_Silent_p.L525L|USP19_ENST00000417901.1_Silent_p.L820L|USP19_ENST00000398888.2_Silent_p.L717L|USP19_ENST00000434032.2_Silent_p.L818L|USP19_ENST00000398898.2_Silent_p.L757L|USP19_ENST00000398892.3_Silent_p.L757L NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 717 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACTCTGAGAGAGGGAGTCCA 0.537000 19 50 0 0 1 0 0 PARD6B 84612 broad.mit.edu 37 20 49354562 49354562 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:49354562C>T ENST00000371610.2 + 2 478 c.235C>T c.(235-237)Cac>Tac p.H79Y PARD6B_ENST00000396039.1_Missense_Mutation_p.H79Y NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 79 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 TGATAATTATCACAAAGCTGT 0.338000 8 43 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121712341 121712341 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121712341C>T ENST00000273691.3 - 6 1228 c.1123G>A c.(1123-1125)Gac>Aac p.D375N ILDR1_ENST00000344209.5_Missense_Mutation_p.D419N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D330N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D387N NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 419 cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CTTAGGCTGTCCCTGTCTGAC 0.617000 5 55 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84444355 84444355 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:84444355C>T ENST00000416219.2 + 6 588 c.499C>T c.(499-501)Cct>Tct p.P167S ATP2C2_ENST00000262429.4_Missense_Mutation_p.P167S|ATP2C2_ENST00000420010.2_Intron O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 167 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CAAGATGGTTCCTCCAGAATG 0.507000 4 59 0 0 1 0 0 NPBWR1 2831 broad.mit.edu 37 8 53853272 53853272 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:53853272C>T ENST00000331251.3 + 1 2282 c.805C>T c.(805-807)Ctg>Ttg p.L269L NM_005285.3 NP_005276.2 P48145 NPBW1_HUMAN neuropeptides B/W receptor 1 269 synaptic transmission plasma membrane opioid receptor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2) 17 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) GCCCTACCACCTGAGCACCGT 0.657000 4 33 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62777950 62777950 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:62777950T>C ENST00000280377.5 + 11 1398 c.1340T>C c.(1339-1341)gTt>gCt p.V447A USP15_ENST00000393654.3_Missense_Mutation_p.V422A|USP15_ENST00000353364.3_Missense_Mutation_p.V418A NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 447 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TCAACTTTAGTTTGTCCTGAG 0.363000 3 45 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153190674 153190674 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:153190674C>T ENST00000285900.5 + 16 2953 c.2610C>T c.(2608-2610)ggC>ggT p.G870G GRIA1_ENST00000448073.4_Silent_p.G880G|GRIA1_ENST00000518142.1_Silent_p.G790G|GRIA1_ENST00000518783.1_Silent_p.G880G|GRIA1_ENST00000521843.2_Silent_p.G801G|GRIA1_ENST00000340592.5_Silent_p.G870G NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 870 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) CCAGCAGCGGCGGCAGTGGAG 0.577000 9 36 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86831042 86831042 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:86831042A>T ENST00000237455.4 - 4 2950 c.1982T>A c.(1981-1983)gTt>gAt p.V661D AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 661 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CCACCGGCAAACAGGGCAACA 0.438000 10 97 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101740231 101740231 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:101740231C>T ENST00000261637.4 + 38 4923 c.4749C>T c.(4747-4749)atC>atT p.I1583I NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1583 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACCCATAGATCCACAGAAGAG 0.343000 5 42 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019902 20019902 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20019902G>A ENST00000551509.1 - 1 370 c.319C>T c.(319-321)Ccc>Tcc p.P107S NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 107 endometrium(4)|kidney(1)|lung(4) 9 CTGCAGCAGGGGAAGCAGTGG 0.612000 9 226 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48698850 48698850 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:48698850C>T ENST00000544264.1 - 1 1498 c.1218G>A c.(1216-1218)caG>caA p.Q406Q CELSR3_ENST00000164024.4_Silent_p.Q406Q Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 406 Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCCGTGGTCCTGCGCGGTCA 0.667000 6 41 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46111149 46111149 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46111149G>A ENST00000321037.4 + 4 1364 c.1134G>A c.(1132-1134)ctG>ctA p.L378L NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 378 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 GCCACATCCTGGGATTAAAAC 0.433000 16 78 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167075 6167075 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:6167075C>T ENST00000261405.5 - 14 1923 c.1669G>A c.(1669-1671)Ggg>Agg p.G557R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 557 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGGCAGTCCCCGTGCAGCTTC 0.647000 7 85 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55144082 55144082 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55144082C>T ENST00000396331.1 + 7 1186 c.829C>T c.(829-831)Ctc>Ttc p.L277F LILRB1_ENST00000427581.2_Missense_Mutation_p.L313F|LILRB1_ENST00000418536.2_Missense_Mutation_p.L277F|LILRB1_ENST00000396315.1_Missense_Mutation_p.L277F|LILRB1_ENST00000396317.1_Missense_Mutation_p.L277F|LILRB1_ENST00000396327.3_Missense_Mutation_p.L277F|LILRB1_ENST00000396332.4_Missense_Mutation_p.L277F|LILRB1_ENST00000448689.1_Missense_Mutation_p.L277F|LILRB1_ENST00000324602.7_Missense_Mutation_p.L277F|LILRB1_ENST00000434867.2_Missense_Mutation_p.L277F|LILRB1_ENST00000396321.2_Missense_Mutation_p.L277F NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 277 Ig-like C2-type 3. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCAGGCTGGGCTCTCCCAGGC 0.617000 HNSCC(37;0.09) 12 78 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973868 128973868 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:128973868C>T ENST00000522781.1 - 4 1347 c.792G>A c.(790-792)agG>agA p.R264R DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.R264R NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 264 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCTCGGGGGCCCTGGCACTGA 0.652000 3 33 0 0 1 0 0 ZNF670 93474 broad.mit.edu 37 1 247201223 247201223 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247201223G>A ENST00000366503.2 - 4 856 c.698C>T c.(697-699)tCa>tTa p.S233L NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) AAAAGTGAATGATTTACCACA 0.378000 5 37 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716851 74716851 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:74716851C>T ENST00000294064.4 + 3 1627 c.700C>T c.(700-702)Ctg>Ttg p.L234L NEU3_ENST00000544263.1_Silent_p.L201L|NEU3_ENST00000545272.1_Silent_p.L125L|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.L234L|NEU3_ENST00000529024.1_Intron NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 234 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GCCTCATTCTCTGATGATCTA 0.507000 14 75 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73553298 73553298 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:73553298C>T ENST00000224721.6 + 47 6633 c.6628C>T c.(6628-6630)Cca>Tca p.P2210S NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2205 Cadherin 21. EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGACCTCAACCCAAAGCTAGA 0.567000 8 30 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401496 85401496 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:85401496G>A ENST00000258888.5 + 6 4300 c.4133G>A c.(4132-4134)gGa>gAa p.G1378E NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1378 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGAGCAGCAGGAGACGGGGAG 0.647000 5 5 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726690 32726690 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:32726690C>T ENST00000435145.2 - 3 644 c.583G>A c.(583-585)Gga>Aga p.G195R HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G195R|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.G195R Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 195 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 TAGATGTCTCCACGCTGGGGA 0.567000 6 53 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836114 43836114 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43836114C>T ENST00000372781.3 + 2 233 c.176C>T c.(175-177)tCc>tTc p.S59F SEMG1_ENST00000244069.6_Missense_Mutation_p.S59F NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CAAACTGAATCCAAAGGCAGT 0.408000 10 102 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9228267 9228267 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:9228267G>A ENST00000328194.3 - 3 564 c.244C>T c.(244-246)Cct>Tct p.P82S DENND5A_ENST00000530044.1_Missense_Mutation_p.P82S NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 82 UDENN. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACGTTCTCAGGATATCGTGCA 0.338000 27 112 0 0 1 0 0 ATG13 9776 broad.mit.edu 37 11 46693861 46693861 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:46693861C>T ENST00000434074.1 + 17 2222 c.1533C>T c.(1531-1533)gcC>gcT p.A511A ATG13_ENST00000312040.4_Silent_p.A511A|ATG13_ENST00000359513.4_Silent_p.A511A|ATG13_ENST00000526508.1_Silent_p.A511A|ATG13_ENST00000530500.1_Silent_p.A395A|ATG13_ENST00000529655.1_Silent_p.A474A|ATG13_ENST00000524625.1_Silent_p.A474A|ATG13_ENST00000451945.1_Silent_p.A474A|ATG13_ENST00000528494.1_Silent_p.A544A NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 511 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 AGTTTGATGCCTTTGTGGAAA 0.542000 8 117 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135433610 135433610 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:135433610C>T ENST00000394143.1 + 7 7023 c.6732C>T c.(6730-6732)tcC>tcT p.S2244S GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.S2039S|GPR112_ENST00000412101.1_Silent_p.S2039S|GPR112_ENST00000370652.1_Silent_p.S2244S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2244 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTACAGTTTCCTTCTACAATG 0.289000 9 29 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98188504 98188504 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:98188504C>T ENST00000357947.3 - 5 747 c.520_splice c.e5-1 p.G174_splice TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 174 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCCTCTGGCTCCCTGAAACAA 0.443000 10 39 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328418 48328418 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48328418C>T ENST00000319988.1 + 1 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CTTATCATTTCCTATGTTATC 0.463000 10 71 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61779862 61779862 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:61779862C>T ENST00000325324.6 + 11 1216 c.1047C>T c.(1045-1047)gcC>gcT p.A349A KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.A389A NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 349 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CTCTTGAAGCCCATAAGATTA 0.318000 6 49 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68207275 68207275 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68207275C>T ENST00000294304.7 + 21 4485 c.4379C>T c.(4378-4380)tCc>tTc p.S1460F NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1460 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATGATGAGCTCCGTGAGCCTG 0.682000 4 19 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57013278 57013278 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:57013278C>T ENST00000370706.4 + 10 2639 c.2395C>T c.(2395-2397)Cat>Tat p.H799Y ZNF451_ENST00000357489.3_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 799 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAAAGCATTTCATGATCCTGA 0.423000 4 36 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3081262 3081262 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:3081262C>T ENST00000520002.1 - 29 5031 c.4476G>A c.(4474-4476)ttG>ttA p.L1492L CSMD1_ENST00000602723.1_Silent_p.L1492L|CSMD1_ENST00000539096.1_Silent_p.L1491L|CSMD1_ENST00000537824.1_Silent_p.L1491L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.L1492L|CSMD1_ENST00000542608.1_Silent_p.L1491L|CSMD1_ENST00000400186.3_Silent_p.L1492L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1492 CUB 9. 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) TTTTGAATATCAAGGCGATGA 0.403000 6 88 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200635235 200635235 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:200635235C>T ENST00000447706.2 - 2 785 c.634G>A c.(634-636)Gag>Aag p.E212K DDX59_ENST00000331314.6_Missense_Mutation_p.E212K|DDX59_ENST00000367348.3_Missense_Mutation_p.E212K Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 212 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 TTTAAGACCTCAGGGAGACTA 0.438000 27 149 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108474693 108474693 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:108474693C>T ENST00000295755.6 - 3 466 c.268G>A c.(268-270)Gaa>Aaa p.E90K RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 90 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 CAGGTGGTTTCCAGCTGAACA 0.572000 11 76 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220472776 220472776 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220472776C>T ENST00000456909.1 + 14 1317 c.1227C>T c.(1225-1227)ttC>ttT p.F409F STK11IP_ENST00000295641.10_Silent_p.F420F Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 420 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGGATGGTTCGTGCAGCAGC 0.627000 4 34 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100348538 100348538 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:100348538G>A ENST00000273352.3 + 2 480 c.212G>A c.(211-213)gGa>gAa p.G71E NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 71 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAGTGGAAAGGACTGAGATGT 0.388000 16 53 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669558 53669558 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:53669558C>T ENST00000396424.3 - 4 274 c.185G>A c.(184-186)gGg>gAg p.G62E ZNF665_ENST00000600412.1_5'UTR NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) ATTGTTCTTCCCCTTTGGTGG 0.378000 15 240 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75444565 75444565 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:75444565C>T ENST00000549446.1 - 3 1900 c.1220G>A c.(1219-1221)gGa>gAa p.G407E KCNC2_ENST00000548513.1_Missense_Mutation_p.G407E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G407E|KCNC2_ENST00000540018.1_Missense_Mutation_p.G407E|KCNC2_ENST00000298972.1_Missense_Mutation_p.G407E|KCNC2_ENST00000550433.1_Missense_Mutation_p.G407E|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Missense_Mutation_p.G407E|KCNC2_ENST00000350228.2_Missense_Mutation_p.G407E NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 407 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGGTTGAGCTCCCACTCTCTC 0.448000 5 52 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1578450 1578450 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:1578450G>A ENST00000590550.2 - 5 970 c.597C>T c.(595-597)gcC>gcT p.A199A MBD3_ENST00000434436.3_Silent_p.A255A|MBD3_ENST00000156825.1_Silent_p.A255A|MBD3_ENST00000592012.1_Silent_p.A223A O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 255 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGTCACGGGCCAGCTCCT 0.692000 7 75 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 5984012 5984012 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:5984012C>T ENST00000574946.1 + 2 424 c.34C>T c.(34-36)Ctc>Ttc p.L12F WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.L12F|WSCD1_ENST00000574232.1_Missense_Mutation_p.L12F|WSCD1_ENST00000317744.5_Missense_Mutation_p.L12F Q658N2 WSCD1_HUMAN WSC domain containing 1 12 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CCAGAAGTTTCTCCGCCGAAC 0.657000 7 63 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551458 1551458 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:1551458G>A ENST00000381605.4 - 4 1141 c.1077C>T c.(1075-1077)atC>atT p.I359I RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 359 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CACCATGGGTGATATCTGAGC 0.428000 19 146 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519287 50519287 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:50519287G>A ENST00000267842.5 + 7 1601 c.1369G>A c.(1369-1371)Gga>Aga p.G457R SLC27A2_ENST00000544960.1_Missense_Mutation_p.G222R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G404R NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 457 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTTTAAGAAAGGAGACCTCTA 0.388000 4 42 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35914047 35914047 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:35914047G>A ENST00000339208.6 - 14 1918 c.1778C>T c.(1777-1779)cCa>cTa p.P593L SYNRG_ENST00000346661.4_Missense_Mutation_p.P593L|SYNRG_ENST00000345615.4_Missense_Mutation_p.P515L|SYNRG_ENST00000591288.1_Missense_Mutation_p.P432L|SYNRG_ENST00000502449.2_Missense_Mutation_p.P515L|SYNRG_ENST00000394378.2_Missense_Mutation_p.P515L|SYNRG_ENST00000585472.1_Missense_Mutation_p.P514L|SYNRG_ENST00000588194.1_5'UTR NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 593 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GGGGAAGGATGGTGGAAAAGT 0.408000 6 125 0 0 1 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767710 143767710 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:143767710G>A ENST00000419275.1 - 1 171 c.139C>T c.(139-141)Cgt>Tgt p.R47C NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 47 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity p.R47C(1) breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CCCTTATAACGAAATCCTTTC 0.483000 4 178 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070955 9070955 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9070955C>T ENST00000397910.4 - 3 16694 c.16491G>A c.(16489-16491)aaG>aaA p.K5497K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5499 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 TTGAGCTGGTCTTCTCAGACG 0.468000 7 51 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593517 11593517 + Missense_Mutation SNP C C T rs138872750 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:11593517C>T ENST00000262442.3 + 20 4446 c.4378C>T c.(4378-4380)Ccc>Tcc p.P1460S DNAH9_ENST00000454412.2_Missense_Mutation_p.P1460S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1460 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GACCAATGTCCCCCTCCTGTG 0.493000 7 50 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19642411 19642411 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:19642411C>T ENST00000284885.3 - 25 2968 c.2935G>A c.(2935-2937)Gaa>Aaa p.E979K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 979 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.E979*(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CTGTTGTTTTCTTGGCACATT 0.428000 8 106 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360232 55360232 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55360232G>A ENST00000398661.2 - 8 1001 c.870C>T c.(868-870)atC>atT p.I290I HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Silent_p.I260I|HMGCLL1_ENST00000370850.2_Silent_p.I157I NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 290 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGGCCGTAAGGATATTTGCTA 0.388000 7 45 0 0 1 0 0 SLC13A4 26266 broad.mit.edu 37 7 135392890 135392890 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:135392890C>T ENST00000354042.4 - 3 1026 c.337G>A c.(337-339)Gtc>Atc p.V113I AC091736.10_ENST00000378428.3_RNA NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 113 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 GCCATCAAGACCATGCGCAGA 0.582000 5 123 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99695991 99695991 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:99695991G>A ENST00000370597.3 - 3 712 c.357C>T c.(355-357)gcC>gcT p.A119A CRTAC1_ENST00000370591.2_Silent_p.A119A|CRTAC1_ENST00000298819.4_Silent_p.A119A NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 119 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) CGATGTCGCAGGCTGTGACCC 0.647000 12 54 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519035 113519035 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:113519035G>A ENST00000284601.3 - 4 2180 c.2112C>T c.(2110-2112)acC>acT p.T704T NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 704 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTCTTGGCAGGTAAACAATT 0.398000 17 147 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993389 140993389 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:140993389C>T ENST00000285879.4 + 4 485 c.199C>T c.(199-201)Ctc>Ttc p.L67F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 67 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCGGATCCTCTCCAGAGACC 0.582000 HNSCC(15;0.026) 9 101 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196802735 196802735 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:196802735G>A ENST00000314062.3 - 17 2047 c.1858C>T c.(1858-1860)Cct>Tct p.P620S DLG1_ENST00000422288.1_Missense_Mutation_p.P620S|DLG1_ENST00000392382.2_Missense_Mutation_p.P638S|DLG1_ENST00000419354.1_Missense_Mutation_p.P671S|DLG1_ENST00000448528.2_Missense_Mutation_p.P671S|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000443183.1_Missense_Mutation_p.P555S|DLG1_ENST00000346964.2_Intron|DLG1_ENST00000452595.1_Missense_Mutation_p.P555S|DLG1_ENST00000450955.1_Intron Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 671 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) ATGTCGTCAGGGATCTCCTGT 0.388000 8 74 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52896080 52896080 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:52896080C>T ENST00000354452.3 - 18 2488 c.1877G>A c.(1876-1878)cGa>cAa p.R626Q TCF4_ENST00000356073.4_Missense_Mutation_p.R622Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R622Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R492Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R632Q|TCF4_ENST00000567880.1_Missense_Mutation_p.R562Q|TCF4_ENST00000561831.3_Missense_Mutation_p.R462Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R602Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R555Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R492Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R580Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R597Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R619Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R602Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R626Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R598Q|TCF4_ENST00000457482.3_Missense_Mutation_p.R466Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R551Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R492Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R728Q|TCF4_ENST00000566279.1_Missense_Mutation_p.R566Q|TCF4_ENST00000570287.2_Missense_Mutation_p.R462Q NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 622 Class A specific domain. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GCACTGACCTCGGACTTGCTG 0.612000 6 43 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394133 233394133 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:233394133G>A ENST00000258229.8 - 5 1709 c.1475C>T c.(1474-1476)tCg>tTg p.S492L PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 492 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCGGGACACCGATTCCCAGGG 0.537000 6 45 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86697493 86697493 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:86697493G>A ENST00000409556.1 + 12 2051 c.1686G>A c.(1684-1686)aaG>aaA p.K562K KDM3A_ENST00000542128.1_Silent_p.K510K|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000409064.1_Silent_p.K562K|KDM3A_ENST00000312912.5_Silent_p.K562K Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 562 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 AGCAACAGAAGGACTCACCTG 0.478000 10 40 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554593 44554593 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:44554593C>T ENST00000330682.2 - 1 1856 c.1621G>A c.(1621-1623)Gga>Aga p.G541R KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.G541R(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GAGAATCTTCCCTTGTAGTCT 0.577000 6 477 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870476 51870476 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51870476G>A ENST00000371497.5 + 2 1366 c.479G>A c.(478-480)gGc>gAc p.G160D TSHZ2_ENST00000603338.2_Missense_Mutation_p.G157D|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G157D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 160 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACCCGAAACGGCAGCAACAAG 0.547000 15 66 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51378066 51378066 + Nonsense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51378066G>T ENST00000325321.3 + 2 361 c.136G>T c.(136-138)Gga>Tga p.G46* KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron|KLK2_ENST00000358049.4_Nonsense_Mutation_p.G46* P20151 KLK2_HUMAN kallikrein-related peptidase 2 46 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GTACAGTCATGGATGGGCACA 0.617000 T ETV4 prostate 9 41 1.04858e-14 1.06216e-14 1 1 0 GRIK4 2900 broad.mit.edu 37 11 120707542 120707542 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:120707542T>C ENST00000527524.2 + 8 1020 c.733T>C c.(733-735)Ttc>Ctc p.F245L GRIK4_ENST00000438375.2_Missense_Mutation_p.F245L Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 245 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) CACATACATCTTCACTAATCT 0.448000 6 92 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36341926 36341926 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:36341926C>T ENST00000378910.5 - 4 462 c.463G>A c.(463-465)Gag>Aag p.E155K NPHS1_ENST00000353632.6_Missense_Mutation_p.E155K NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 155 Ig-like C2-type 2. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACCACGTACTCCTGCCCAGCT 0.607000 6 52 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73045047 73045047 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:73045047C>T ENST00000604411.1 + 0 33008 XIST_ENST00000429829.1_lincRNA NR_003255.2 CATGTGTTTTCGTTTCTGATA 0.333000 5 11 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657103 81657103 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:81657103C>T ENST00000550584.2 - 30 3917 c.3622G>A c.(3622-3624)Gga>Aga p.G1208R PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1187R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1193R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G394R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G744R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1208R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1196R|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1107R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1103R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1055R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1202R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1107 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATGCTGATTCCATGTACTTCA 0.443000 3 25 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137872796 137872796 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:137872796G>A ENST00000409968.1 + 5 1480 c.1302G>A c.(1300-1302)ggG>ggA p.G434G THSD7B_ENST00000413152.2_Silent_p.G403G|THSD7B_ENST00000272643.3_Silent_p.G434G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTGGCGGTGGGATCCAGACCC 0.602000 6 21 0 0 1 0 0 CCL25 6370 broad.mit.edu 37 19 8122725 8122725 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8122725C>T ENST00000315626.4 + 4 338 c.232C>T c.(232-234)Caa>Taa p.Q78* CCL25_ENST00000390669.3_Silent_p.S122S|CCL25_ENST00000253451.4_Silent_p.S121S O15444 CCL25_HUMAN chemokine (C-C motif) ligand 25 0 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1) 5 ctggaaactccaagttatcat 0.458000 3 40 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18266907 18266907 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:18266907G>A ENST00000377369.2 + 5 1101 c.828G>A c.(826-828)agG>agA p.R276R SLC39A12_ENST00000377371.3_Silent_p.R276R|SLC39A12_ENST00000539911.1_Silent_p.R142R|SLC39A12_ENST00000377374.4_Silent_p.R276R NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 276 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AATTTCAAAGGAAACAAAACA 0.363000 19 96 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65978617 65978617 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:65978617C>T ENST00000320580.4 + 4 580 c.547C>T c.(547-549)Ctt>Ttt p.L183F NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 183 Missing (in Ref. 2; BAC04831). interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CCCTCATTTCCTTAAGCGAGA 0.493000 16 214 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75427947 75427947 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:75427947A>T ENST00000502798.2 + 2 814 c.372A>T c.(370-372)gaA>gaT p.E124D SV2C_ENST00000322285.7_Missense_Mutation_p.E124D NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 124 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GGGAGCTGGAATCAGAAAGGA 0.552000 9 30 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24487836 24487836 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:24487836C>T ENST00000264463.4 - 12 2810 c.2303G>A c.(2302-2304)tGg>tAg p.W768* CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 768 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCGAGGGCCCCATTCTCGGAG 0.408000 HNSCC(23;0.051) 5 81 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2774947 2774947 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:2774947G>A ENST00000380605.2 - 14 2158 c.2094C>T c.(2092-2094)ttC>ttT p.F698F NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 698 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGGTGAGCACGAAATTGCAGG 0.642000 11 50 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50683781 50683781 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:50683781G>A ENST00000442544.2 + 8 1933 c.1317G>A c.(1315-1317)ttG>ttA p.L439L DCC_ENST00000412726.1_Silent_p.L287L|DCC_ENST00000581580.1_Silent_p.L94L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 439 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCCTGTCTTGGTTTCCAGCC 0.532000 23 167 0 0 1 0 0 ZNF3 7551 broad.mit.edu 37 7 99669600 99669600 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:99669600C>T ENST00000303915.6 - 5 1474 c.507G>A c.(505-507)gaG>gaA p.E169E ZNF3_ENST00000424697.1_Silent_p.E169E|ZNF3_ENST00000299667.4_Silent_p.E169E|ZNF3_ENST00000413658.2_Intron P17036 ZNF3_HUMAN zinc finger protein 3 169 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) TCTCGCTTCTCTCTCCCCTGG 0.488000 11 121 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83933157 83933157 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:83933157C>T ENST00000345382.2 - 4 931 c.846G>A c.(844-846)ggG>ggA p.G282G BNC1_ENST00000569704.1_Silent_p.G275G|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 282 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CAGGGAAGGGCCCATGGACTT 0.468000 10 51 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101833635 101833635 + Nonsense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:101833635G>T ENST00000376196.3 - 15 1977 c.1818C>A c.(1816-1818)tgC>tgA p.C606* NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1519 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGAGAGGAAGGCAGGATGGAC 0.532000 5 58 4.096e-09 4.14027e-09 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38825330 38825330 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:38825330G>A ENST00000359357.3 + 40 5373 c.5119G>A c.(5119-5121)Gat>Aat p.D1707N DNAH8_ENST00000441566.1_Missense_Mutation_p.D1707N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1924N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTGGACACACGATTCAGAAGA 0.343000 6 59 0 0 1 0 0 ENKUR 219670 broad.mit.edu 37 10 25273711 25273711 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:25273711C>T ENST00000331161.4 - 5 937 c.718G>A c.(718-720)Gac>Aac p.D240N ENKUR_ENST00000376363.1_Missense_Mutation_p.D240N NM_145010.3 NP_659447.1 Q8TC29 ENKUR_HUMAN enkurin, TRPC channel interacting protein 240 cilium|flagellum calmodulin binding|SH3 domain binding p.D240N(1) endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 ATGCCAATGTCGTGTTCTAGT 0.353000 6 39 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49691817 49691817 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:49691817C>T ENST00000296452.4 + 5 4942 c.4828C>T c.(4828-4830)Cct>Tct p.P1610S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1610 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCAGAGCCACCTGGGCCACC 0.642000 3 35 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388662 46388662 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:46388662G>A ENST00000302165.3 - 1 714 c.371C>T c.(370-372)cCc>cTc p.P124L NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GGCGGGCGAGGGCAGGGGGAG 0.751000 3 30 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56540661 56540661 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:56540661G>A ENST00000323777.3 - 4 1133 c.1024C>T c.(1024-1026)Cct>Tct p.P342S NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCATTGAAGGATTCTGGGAA 0.353000 5 61 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513132 78513132 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:78513132C>T ENST00000397909.2 + 15 3329 c.3156C>T c.(3154-3156)ccC>ccT p.P1052P NAV3_ENST00000228327.6_Silent_p.P1052P|NAV3_ENST00000536525.2_Silent_p.P1052P|NAV3_ENST00000266692.7_Silent_p.P1052P Q8IVL0 NAV3_HUMAN neuron navigator 3 1052 Ser-rich. 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 GGAAAAAGCCCCCCTCAGGCA 0.488000 HNSCC(70;0.22) 16 62 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524078 108524078 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:108524078C>T ENST00000379007.2 - 2 388 c.334G>A c.(334-336)Gaa>Aaa p.E112K NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 112 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 TTTCCCATTTCCTTTGGAAAA 0.323000 9 24 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080361 115080361 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:115080361G>A ENST00000537058.1 - 8 1031 c.1011C>T c.(1009-1011)atC>atT p.I337I CADM1_ENST00000331581.6_Silent_p.I337I|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.I337I Q9BY67 CADM1_HUMAN cell adhesion molecule 1 337 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggGAGGAGGGATAGTTGTGG 0.448000 9 44 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046487 42046487 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:42046487G>A ENST00000372584.1 - 3 4996 c.3982C>T c.(3982-3984)Ccg>Tcg p.P1328S HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1328S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1328S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1328S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1328 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCATAGGACGGCATATTGGTC 0.577000 17 59 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647235 33647235 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:33647235C>T ENST00000558425.1 - 2 364 c.365G>A c.(364-366)gGa>gAa p.G122E TCACTGACTTCCCCTCGCTGT 0.577000 16 137 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19770462 19770462 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:19770462A>G ENST00000357324.6 - 3 651 c.625T>C c.(625-627)Ttc>Ctc p.F209L ATP13A1_ENST00000291503.5_Missense_Mutation_p.F91L NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 209 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TCTTCCTGGAAGCCTCTGTTG 0.502000 11 63 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37518344 37518344 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:37518344C>T ENST00000432825.2 - 9 2340 c.2292G>A c.(2290-2292)caG>caA p.Q764Q RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Silent_p.Q289Q NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 764 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) GTTGGCTGCTCTGGGCCACAG 0.587000 6 14 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75434918 75434918 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:75434918C>T ENST00000341669.3 - 5 2392 c.1849G>A c.(1849-1851)Gac>Aac p.D617N RP11-81K13.1_ENST00000547040.1_RNA|KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000298972.1_3'UTR|KCNC2_ENST00000550433.1_Missense_Mutation_p.D617N|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000549446.1_3'UTR|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000350228.2_3'UTR NM_001260498.1 NP_001247427.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 0 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CCAGTATAGTCCTTGGTATGG 0.443000 5 42 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56962279 56962279 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:56962279C>T ENST00000371250.3 - 6 1431 c.880G>A c.(880-882)Gaa>Aaa p.E294K PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 294 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GAAAGGATTTCCTTCCGGATA 0.478000 10 94 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296489 20296489 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20296489G>A ENST00000315947.1 + 1 882 c.882G>A c.(880-882)gtG>gtA p.V294V OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACCAGGAAGTGAAAGCTTCCA 0.378000 6 80 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996947 154996947 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:154996947C>T ENST00000392825.3 + 4 807 c.240C>T c.(238-240)atC>atT p.I80I GALNT13_ENST00000409237.1_Silent_p.I80I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 80 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGTTTAAAATCAATCAGTTTA 0.363000 5 36 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37819081 37819081 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37819081C>T ENST00000336308.5 + 15 1476 c.1258C>T c.(1258-1260)Cac>Tac p.H420Y STARD3_ENST00000580611.1_Silent_p.S401S|STARD3_ENST00000544210.2_Missense_Mutation_p.H420Y|STARD3_ENST00000394250.4_Missense_Mutation_p.H402Y NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 420 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GTACCTCATCCACCAGAGCCT 0.667000 11 106 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12297776 12297776 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:12297776C>T ENST00000343979.4 + 4 723 c.583C>T c.(583-585)Cca>Tca p.P195S ZNF136_ENST00000398616.2_Missense_Mutation_p.P129S NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 195 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TGGATATACACCATATAAATG 0.378000 12 38 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19644485 19644485 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19644485C>T ENST00000438132.3 + 19 1941 c.1893C>T c.(1891-1893)tcC>tcT p.S631S C16orf62_ENST00000448695.1_Silent_p.S392S|C16orf62_ENST00000417362.2_Silent_p.S475S|C16orf62_ENST00000542263.1_Silent_p.S564S|C16orf62_ENST00000251143.5_Silent_p.S542S|C16orf62_ENST00000543152.1_Silent_p.S291S NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 542 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTGAAGATTCCTACCCCCAGG 0.408000 6 130 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118081291 118081291 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:118081291C>T ENST00000292067.7 - 3 746 c.305G>A c.(304-306)gGa>gAa p.G102E AMICA1_ENST00000533261.1_Missense_Mutation_p.G112E|AMICA1_ENST00000526620.1_Missense_Mutation_p.G73E|AMICA1_ENST00000356289.5_Missense_Mutation_p.G112E NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 112 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GATATAGGTTCCCTGGTCAGC 0.537000 7 93 0 0 1 0 0 MIEF1 54471 broad.mit.edu 37 22 39910160 39910160 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:39910160C>T ENST00000325301.2 + 6 1648 c.1224C>T c.(1222-1224)ttC>ttT p.F408F SMCR7L_ENST00000402881.1_Silent_p.F408F|SMCR7L_ENST00000404569.1_Silent_p.F408F NM_019008.4 NP_061881.2 Q9NQG6 SMC7L_HUMAN 408 integral to membrane|mitochondrion central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1) 16 Melanoma(58;0.04) CCGACCGTTTCCTGCAGGCCT 0.587000 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725553 55725553 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55725553G>A ENST00000379667.1 + 1 69 c.69G>A c.(67-69)gtG>gtA p.V23V NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTCAGATTGTGATTTTTCTCT 0.423000 12 71 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836443 43836443 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43836443C>T ENST00000372781.3 + 2 562 c.505C>T c.(505-507)Cat>Tat p.H169Y SEMG1_ENST00000244069.6_Missense_Mutation_p.H169Y NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) GCTGTGGGTTCATGGACTAAG 0.433000 5 111 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27121432 27121432 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:27121432G>A ENST00000354828.3 + 4 834 c.e4+1 GABPA_ENST00000487266.1_Splice_Site|GABPA_ENST00000400075.3_Splice_Site NM_001197297.1 NP_001184226.1 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha subunit 60kDa positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 TCTTACCAAGGTAAGTTACTT 0.318000 6 30 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175972 57175972 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:57175972A>C ENST00000537055.2 - 2 826 c.595T>G c.(595-597)Tgc>Ggc p.C199G NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCCTTGCCGCAGTCGGCGCAG 0.731000 3 17 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738518 41738518 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:41738518G>A ENST00000373018.3 - 7 1569 c.1318C>T c.(1318-1320)Caa>Taa p.Q440* FRS3_ENST00000259748.2_Nonsense_Mutation_p.Q440* NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 440 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ATGGGGGCTTGGGGGCTCGAG 0.647000 11 115 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8492945 8492945 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:8492945G>A ENST00000381196.4 - 24 2927 c.2384C>T c.(2383-2385)tCc>tTc p.S795F PTPRD_ENST00000540109.1_Missense_Mutation_p.S795F|PTPRD_ENST00000360074.4_Missense_Mutation_p.S782F|PTPRD_ENST00000358503.5_Missense_Mutation_p.S773F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S795F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 795 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAGGGAGTAGGAAGTTTCAGG 0.483000 TSP Lung(15;0.13) 9 84 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43214426 43214426 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43214426G>A ENST00000259750.4 + 2 111 c.28G>A c.(28-30)Gac>Aac p.D10N NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 10 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CGCCCTTAAGGACGAAACCAA 0.672000 5 55 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41272544 41272544 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:41272544G>A ENST00000361937.3 - 36 4972 c.4548C>T c.(4546-4548)tcC>tcT p.S1516S INO80_ENST00000401393.3_Silent_p.S1516S Q9ULG1 INO80_HUMAN INO80 complex subunit 1516 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCTCAAAGGGGAACTCAAAG 0.557000 9 62 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284133 39284133 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:39284133C>T ENST00000373229.5 - 5 760 c.747G>A c.(745-747)ctG>ctA p.L249L KCNK16_ENST00000437525.2_Silent_p.L249L|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 249 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GTGGGAGGATCAGCGCCAGCC 0.642000 4 27 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96707637 96707637 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:96707637C>T ENST00000260682.6 + 4 595 c.583C>T c.(583-585)Ctt>Ttt p.L195F NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 195 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TCAGCAATTTCTTAACTTAAT 0.403000 13 93 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171509377 171509377 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:171509377G>A ENST00000176763.5 - 12 2285 c.1942C>T c.(1942-1944)Cgg>Tgg p.R648W NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 648 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTGTAGTCCCGATCCTGCTCC 0.592000 12 75 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102043127 102043127 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:102043127G>A ENST00000549145.1 + 14 1350 c.1250G>A c.(1249-1251)gGa>gAa p.G417E MYBPC1_ENST00000550270.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G404E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G392E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G390E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G305E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G404E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G378E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G429E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G385E|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G429E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G391E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G404E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G404E Q00872 MYPC1_HUMAN myosin binding protein C, slow type 404 Ig-like C2-type 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ATCATAGAGGGAGCAACAAAG 0.378000 7 103 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932279 23932279 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:23932279G>A ENST00000331837.4 - 1 171 c.86C>T c.(85-87)tCg>tTg p.S29L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 29 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AACCCCCTCCGAAACCCCAGG 0.687000 Prader-Willi syndrome 4 22 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120233909 120233909 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:120233909C>T ENST00000276681.6 + 3 317 c.215C>T c.(214-216)tCc>tTc p.S72F RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR NM_052886.2 NP_443118.1 Q969L2 MAL2_HUMAN mal, T-cell differentiation protein 2 (gene/pseudogene) 72 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) ATGTTTGTGTCCGTGACAGCG 0.473000 17 179 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219028987 219028987 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219028987G>A ENST00000295683.2 - 2 1068 c.948C>T c.(946-948)ttC>ttT p.F316F NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 316 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGATCTTGAGGAATCCATGGC 0.527000 23 85 0 0 1 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247180 142247180 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142247180G>A ENST00000390361.3 - 0 325 GAGTAGAGACGGATCCCTCAG 0.572000 17 73 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66053984 66053984 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:66053984C>T ENST00000503581.1 - 10 2083 c.1546G>A c.(1546-1548)Gat>Aat p.D516N EYS_ENST00000370618.3_Missense_Mutation_p.D516N|EYS_ENST00000342421.5_Missense_Mutation_p.D516N|EYS_ENST00000370621.3_Missense_Mutation_p.D516N|EYS_ENST00000370616.2_Missense_Mutation_p.D516N|EYS_ENST00000393380.2_Missense_Mutation_p.D516N NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 516 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TCTTCAGGATCGTTCACATAG 0.373000 4 65 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284311 152284311 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:152284311C>T ENST00000368799.1 - 3 3086 c.3051G>A c.(3049-3051)caG>caA p.Q1017Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1017 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACGCAGCCTGTCCACCAG 0.587000 Ichthyosis 97 402 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985924 108985924 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:108985924G>A ENST00000392806.3 - 2 404 c.236C>T c.(235-237)cCc>cTc p.P79L NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 79 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GTTGGTGGGGGGTGATGGGCC 0.657000 7 70 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161522950 161522950 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161522950G>A ENST00000392142.4 + 18 3849 c.3701G>A c.(3700-3702)cGa>cAa p.R1234Q MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1180Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1230Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1184Q NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1234 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAAAATGATCGATTGGCTTCC 0.408000 7 25 0 0 1 0 0 GATA4 2626 broad.mit.edu 37 8 11615843 11615843 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:11615843C>T ENST00000335135.4 + 7 1746 c.1188C>T c.(1186-1188)atC>atT p.I396I GATA4_ENST00000528712.1_Silent_p.I190I|GATA4_ENST00000532059.1_Silent_p.I397I NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 396 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) GGCCCTCCATCCACCCTGTCC 0.602000 11 98 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43927045 43927045 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:43927045G>A ENST00000537548.1 - 8 1435 c.1191C>T c.(1189-1191)ttC>ttT p.F397F MATN4_ENST00000372754.1_Silent_p.F438F|MATN4_ENST00000372753.1_Silent_p.F248F|MATN4_ENST00000372751.4_Silent_p.F248F|MATN4_ENST00000342716.4_Silent_p.F397F|MATN4_ENST00000360607.5_Silent_p.F356F|MATN4_ENST00000372756.1_Silent_p.F397F|MATN4_ENST00000353917.5_Silent_p.F315F O95460 MATN4_HUMAN matrilin 4 438 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GACCCAGAGGGAACTCGGTGC 0.657000 6 45 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315892 50315892 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:50315892G>A ENST00000332853.3 - 2 227 c.204C>T c.(202-204)ttC>ttT p.F68F VSTM4_ENST00000298454.3_Silent_p.F68F NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 68 Ig-like. F -> S (in dbSNP:rs13088). integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 CCTGGGAGTCGAAGGAGTGTG 0.607000 13 38 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21938988 21938988 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:21938988G>A ENST00000328843.6 + 81 13136 c.13105G>A c.(13105-13107)Gat>Aat p.D4369N DNAH11_ENST00000409508.3_Missense_Mutation_p.D4362N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4369 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCGAGAACTCGATACTTGGAC 0.502000 Kartagener syndrome 30 154 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65288560 65288560 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:65288560G>A ENST00000284037.5 + 3 403 c.14G>A c.(13-15)cGa>cAa p.R5Q ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R5Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R5Q NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 5 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ACTACAAAACGAAGTTTGTTT 0.363000 4 70 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54794676 54794676 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:54794676C>A ENST00000293379.4 - 25 2858 c.2597G>T c.(2596-2598)gGa>gTa p.G866V RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 866 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GCAGTTGAGTCCCGTAACTCT 0.562000 5 16 0.184627 0.184743 1 1 0 LPHN2 23266 broad.mit.edu 37 1 82432206 82432206 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82432206C>T ENST00000370728.1 + 15 2895 c.2250C>T c.(2248-2250)aaC>aaT p.N750N LPHN2_ENST00000370727.1_Silent_p.N750N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.N737N|LPHN2_ENST00000271029.4_Silent_p.N750N|LPHN2_ENST00000394879.1_Silent_p.N737N|LPHN2_ENST00000370730.1_Silent_p.N750N|LPHN2_ENST00000319517.6_Silent_p.N737N|LPHN2_ENST00000370717.2_Silent_p.N750N|LPHN2_ENST00000370725.1_Silent_p.N750N|LPHN2_ENST00000335786.5_Silent_p.N750N|LPHN2_ENST00000359929.3_Silent_p.N737N|LPHN2_ENST00000370721.1_Silent_p.N675N|LPHN2_ENST00000370723.1_Silent_p.N737N|LPHN2_ENST00000370715.1_Silent_p.N737N O95490 LPHN2_HUMAN latrophilin 2 750 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.N737N(1) 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) TTGCAGTGAACTCTCACGTCA 0.413000 13 151 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169993919 169993919 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:169993919C>T ENST00000263816.3 - 76 13888 c.13603G>A c.(13603-13605)Gtg>Atg p.V4535M NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4535 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCTGAACCACTTTGACAGCA 0.428000 5 98 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148903910 148903910 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:148903910C>T ENST00000262085.3 + 3 813 c.708C>T c.(706-708)tcC>tcT p.S236S ZNF282_ENST00000479907.1_Silent_p.S236S NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 236 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CCCTCATGTCCCTGGGTAAGG 0.478000 6 111 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67261496 67261496 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:67261496G>A ENST00000356404.3 - 20 3130 c.2905C>T c.(2905-2907)Cac>Tac p.H969Y PITPNM1_ENST00000436757.2_Missense_Mutation_p.H968Y|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.H969Y NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 969 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 GTGCCAAAGTGGATCCACTTG 0.637000 5 44 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10312891 10312891 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10312891G>A ENST00000403437.2 - 16 1696 c.1602C>T c.(1600-1602)ttC>ttT p.F534F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 534 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCAGGATGGAGAAGATGCCCA 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 14 47 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105377928 105377928 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:105377928G>A ENST00000264122.4 - 19 3156 c.2835C>T c.(2833-2835)gcC>gcT p.A945A CBLB_ENST00000394027.3_Silent_p.A923A|CBLB_ENST00000407712.1_Silent_p.A160A NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 945 UBA. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CCTCTTCAAAGGCATAACCCT 0.502000 Mis S AML 21 75 0 0 1 0 0 LYZL6 57151 broad.mit.edu 37 17 34266253 34266253 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:34266253C>T ENST00000585556.1 - 2 442 c.108G>A c.(106-108)ttG>ttA p.L36L LYZL6_ENST00000394523.3_Silent_p.L36L|LYZL6_ENST00000293274.4_Silent_p.L36L O75951 LYZL6_HUMAN lysozyme-like 6 36 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAAACCCATCCAAGTCCTCCA 0.542000 17 55 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48264056 48264056 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:48264056C>T ENST00000225964.5 - 48 3877 c.3759G>A c.(3757-3759)aaG>aaA p.K1253K NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1253 Fibrillar collagen NC1. 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) GGGCGGGGTTCTTGCGGCTGC 0.627000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 27 131 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871974 51871974 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51871974A>T ENST00000371497.5 + 2 2864 c.1977A>T c.(1975-1977)aaA>aaT p.K659N TSHZ2_ENST00000603338.2_Missense_Mutation_p.K656N|TSHZ2_ENST00000329613.6_Missense_Mutation_p.K656N NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 659 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AGCTGATGAAAGAGGGCAGCG 0.597000 13 65 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84652724 84652724 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:84652724G>A ENST00000393868.2 - 8 1039 c.829C>T c.(829-831)Cca>Tca p.P277S SUCLG1_ENST00000491123.1_5'UTR NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 277 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) TTGGAATTTGGACCCTAGAAA 0.433000 22 96 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38908914 38908914 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:38908914G>A ENST00000302328.3 - 23 4047 c.3849C>T c.(3847-3849)ctC>ctT p.L1283L SCN11A_ENST00000444237.2_Silent_p.L1283L|SCN11A_ENST00000456224.3_Silent_p.L1245L|SCN11A_ENST00000450244.1_Silent_p.L1283L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1283 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAATGTAACCGAGTGAATTGC 0.328000 3 42 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57931809 57931809 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:57931809C>T ENST00000564448.1 - 30 3028 c.2968G>A c.(2968-2970)Ggc>Agc p.G990S CNGB1_ENST00000251102.8_Missense_Mutation_p.G996S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 996 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 ATCTCACGGCCGATCTCCCCC 0.572000 10 127 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28338293 28338293 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:28338293G>A ENST00000284987.5 - 1 539 c.418C>T c.(418-420)Ccc>Tcc p.P140S NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 140 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 AGAGAGCGGGGACTACCGTCC 0.667000 4 22 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44932986 44932986 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44932986C>T ENST00000291187.4 - 6 2274 c.1952G>A c.(1951-1953)aGa>aAa p.R651K ZNF229_ENST00000588931.1_Missense_Mutation_p.R657K|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CTCTTGGCATCTGTAAGGTTT 0.502000 25 136 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111311748 111311748 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:111311748G>A ENST00000308208.5 + 5 714 c.472G>A c.(472-474)Gaa>Aaa p.E158K CCDC63_ENST00000552694.1_Missense_Mutation_p.E79K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E118K|CCDC63_ENST00000550317.1_3'UTR NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 158 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 TCACATTTTGGAAACCCGTTT 0.428000 10 79 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158606494 158606494 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158606494C>T ENST00000368148.3 - 37 5427 c.5247G>A c.(5245-5247)caG>caA p.Q1749Q SPTA1_ENST00000368147.3_Silent_p.Q1749Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1749 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCAGCAAGTTCTGAACCCCCT 0.468000 25 108 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651261 84651261 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:84651261A>C ENST00000286744.5 + 21 3105 c.2881A>C c.(2881-2883)Atc>Ctc p.I961L ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.I961L NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 961 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ACGGCTTGGCATCACCAAGTC 0.537000 9 87 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253991 55253991 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:55253991T>C ENST00000337526.6 - 3 1487 c.1244A>G c.(1243-1245)aAc>aGc p.N415S RTN4_ENST00000394611.2_Missense_Mutation_p.N209S|RTN4_ENST00000357376.3_Missense_Mutation_p.N209S|RTN4_ENST00000354474.6_Missense_Mutation_p.N183S|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.N209S|RTN4_ENST00000404909.1_Missense_Mutation_p.N209S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 415 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 ACTTTCCAAGTTGCTCTCGAT 0.383000 18 189 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157497543 157497543 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:157497543C>T ENST00000361835.3 - 9 1981 c.1824G>A c.(1822-1824)ggG>ggA p.G608G FCRL5_ENST00000368190.3_Silent_p.G608G|FCRL5_ENST00000368191.3_Silent_p.G523G|FCRL5_ENST00000356953.4_Silent_p.G608G NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 608 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CTGAGCTGCTCCCCAGGGTGA 0.567000 5 101 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245391 137245391 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:137245391G>A ENST00000331858.4 + 2 973 c.808G>A c.(808-810)Ggc>Agc p.G270S NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 270 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CATCACGGTGGGCATGGTGGC 0.582000 7 44 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140620 143140620 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:143140620C>T ENST00000332690.1 + 1 75 c.75C>T c.(73-75)ctC>ctT p.L25L EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 25 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CCATTTTACTCCTTTTACGCC 0.488000 16 145 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327045 30327045 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:30327045G>A ENST00000378970.4 - 1 670 c.436C>T c.(436-438)Ctc>Ttc p.L146F NR0B1_ENST00000453287.1_Missense_Mutation_p.L146F NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 146 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AAGCTGTAGAGGATGCTGCCC 0.692000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 18 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261257 49261257 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49261257C>G ENST00000593756.1 + 4 982 c.410C>G c.(409-411)tCc>tGc p.S137C FGF21_ENST00000222157.3_Missense_Mutation_p.S137C Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 137 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) GTTTACCAGTCCGAAGCCCAC 0.617000 23 190 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71026984 71026984 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:71026984G>A ENST00000318789.4 - 15 1868 c.1343C>T c.(1342-1344)tCg>tTg p.S448L FOXP1_ENST00000498215.1_Missense_Mutation_p.S448L|FOXP1_ENST00000491238.1_Missense_Mutation_p.S450L|FOXP1_ENST00000475937.1_Missense_Mutation_p.S448L|FOXP1_ENST00000468577.1_Missense_Mutation_p.S448L|FOXP1_ENST00000484350.1_Missense_Mutation_p.S372L|FOXP1_ENST00000493089.1_Missense_Mutation_p.S448L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 448 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development 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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCTACCTGACGAAATGGGCAC 0.488000 T PAX5 ALL 10 70 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27620574 27620574 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27620574C>T ENST00000319394.3 + 8 1259 c.724C>T c.(724-726)Ctt>Ttt p.L242F WDTC1_ENST00000361771.3_Missense_Mutation_p.L242F NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 242 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GCAGAAACCCCTTCCGGACGG 0.547000 6 80 0 0 1 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409615 17409615 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:17409615G>A ENST00000339994.4 - 1 591 c.24C>T c.(22-24)atC>atT p.I8I KCNJ11_ENST00000528731.1_Intron NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 0 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) ATTCCTCGGGGATGATGCCCT 0.672000 17 85 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37433933 37433933 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:37433933C>T ENST00000374660.1 + 8 1335 c.1236C>T c.(1234-1236)ttC>ttT p.F412F ANKRD30A_ENST00000602533.1_Silent_p.F412F|ANKRD30A_ENST00000361713.1_Silent_p.F412F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 468 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATCAGAGGTTCCCATCAGAAT 0.254000 31 70 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389793 158389793 + Missense_Mutation SNP C C T rs137874220 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:158389793C>T ENST00000314902.2 - 1 863 c.864G>A c.(862-864)atG>atA p.M288I NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M288I(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGCTATAAATCATTGGGTTGA 0.368000 7 59 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28793200 28793200 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:28793200C>T ENST00000373839.3 + 6 1005 c.744C>T c.(742-744)agC>agT p.S248S PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.S258S NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 248 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) CTACCCCAAGCCTCACTCATA 0.537000 23 77 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451694 19451694 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:19451694G>A ENST00000396229.2 + 3 1083 c.334G>A c.(334-336)Gaa>Aaa p.E112K TMC5_ENST00000542583.2_Missense_Mutation_p.E112K|TMC5_ENST00000541464.1_Missense_Mutation_p.E112K|TMC5_ENST00000381414.4_Missense_Mutation_p.E112K NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 112 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGATTATAGTGAATTTCAGAG 0.488000 44 242 0 0 1 0 0 PTPRR 5801 broad.mit.edu 37 12 71092047 71092047 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71092047G>A ENST00000283228.2 - 8 1729 c.1277C>T c.(1276-1278)cCa>cTa p.P426L PTPRR_ENST00000549308.1_Missense_Mutation_p.P181L|PTPRR_ENST00000342084.4_Missense_Mutation_p.P314L|PTPRR_ENST00000440835.2_Missense_Mutation_p.P181L|PTPRR_ENST00000378778.1_Missense_Mutation_p.P220L NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 426 Tyrosine-protein phosphatase. in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AAGCTTACTTGGTAAAATGGT 0.368000 5 35 0 0 1 0 0 BMI1 648 broad.mit.edu 37 10 22617070 22617070 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:22617070C>T ENST00000376663.3 + 7 938 c.433C>T c.(433-435)Cgg>Tgg p.R145W COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.R288W NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 TAGATTGGATCGGAAAGTAAA 0.284000 4 43 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13279627 13279627 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:13279627G>A ENST00000262487.3 + 6 922 c.916G>A c.(916-918)Gag>Aag p.E306K TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 306 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CTGCAAAAGCGAGTTCTTAAA 0.562000 3 38 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107911614 107911614 + Missense_Mutation SNP G G A rs104886391 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107911614G>A ENST00000328300.6 + 41 3914 c.3670G>A c.(3670-3672)Gaa>Aaa p.E1224K COL4A5_ENST00000361603.2_Missense_Mutation_p.E1224K NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1224 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCAAAGGGCGAACCAGGCTT 0.532000 Alport syndrome with Diffuse Leiomyomatosis 7 19 0 0 1 0 0 PITPNA 5306 broad.mit.edu 37 17 1444893 1444893 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:1444893G>A ENST00000313486.7 - 6 594 c.339C>T c.(337-339)acC>acT p.T113T PITPNA_ENST00000539476.1_Silent_p.T113T NM_006224.3 NP_006215.1 Q00169 PIPNA_HUMAN phosphatidylinositol transfer protein, alpha 113 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) GTTTGTGCCAGGTTTCAATTT 0.443000 5 26 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358406 72358406 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:72358406C>T ENST00000441259.1 - 3 1231 c.1071G>A c.(1069-1071)cgG>cgA p.R357R PRF1_ENST00000373209.2_Silent_p.R357R NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 357 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCAGTGCCTCCCGCCGCGGGT 0.697000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 5 35 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72938055 72938055 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:72938055G>A ENST00000328801.4 + 3 550 c.550G>A c.(550-552)Gat>Aat p.D184N NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 184 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) AGTGGGCTACGATGTGAGCCA 0.602000 4 28 0 0 1 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69053129 69053129 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:69053129G>A ENST00000295381.3 + 11 2160 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E582K|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E275K|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E542K|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E575K|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E574K NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 581 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CCTTGAGAAGGAAAATTATGA 0.453000 6 37 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16613961 16613961 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:16613961C>T ENST00000221671.3 + 3 1001 c.845C>T c.(844-846)tCc>tTc p.S282F C19orf44_ENST00000594035.1_Missense_Mutation_p.S282F|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 282 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CTGCCAACCTCCCTGGCAGCA 0.542000 13 54 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37283664 37283664 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:37283664G>A ENST00000233099.5 - 16 2413 c.2318C>T c.(2317-2319)cCc>cTc p.P773L HEATR5B_ENST00000354531.2_Missense_Mutation_p.P773L NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 773 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GAGAGGGAGGGGACCAGGTAC 0.478000 8 90 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59283854 59283854 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:59283854G>A ENST00000320743.3 - 5 869 c.583C>T c.(583-585)Ctt>Ttt p.L195F LRIG3_ENST00000379141.4_Missense_Mutation_p.L135F NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 195 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTTAACACAAGGAGTGTGTTG 0.418000 T ROS1 NSCLC 18 158 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579440 55579440 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55579440C>T ENST00000333973.2 + 1 587 c.498C>T c.(496-498)atC>atT p.I166I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTCTTAGGATCCCCTTCTATA 0.453000 8 152 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40065273 40065273 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:40065273C>T ENST00000352035.2 - 6 715 c.585G>A c.(583-585)ttG>ttA p.L195L ACLY_ENST00000353196.1_Silent_p.L195L|ACLY_ENST00000393896.2_Silent_p.L195L|ACLY_ENST00000590151.1_Silent_p.L195L|ACLY_ENST00000537919.1_Intron NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 195 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) AGGTGAAGTACAAGTCCTCGT 0.557000 3 24 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815820 179815820 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:179815820G>A ENST00000367612.3 - 6 1186 c.799C>T c.(799-801)Cca>Tca p.P267S NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 267 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 CTCTGGCCTGGAAATTTATCT 0.493000 14 74 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121994790 121994790 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121994790C>T ENST00000498619.1 + 5 1947 c.1509C>T c.(1507-1509)atC>atT p.I503I CASR_ENST00000296154.5_Silent_p.I503I|CASR_ENST00000490131.1_Silent_p.I503I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 503 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ATGGCTCCATCGTGTTTAAGG 0.507000 27 108 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064483 9064483 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9064483G>A ENST00000397910.4 - 3 23166 c.22963C>T c.(22963-22965)Cag>Tag p.Q7655* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7657 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAATCCCTGAATTACTATA 0.507000 12 39 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102124531 102124531 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:102124531C>T ENST00000369138.1 + 4 1065 c.575C>T c.(574-576)cCa>cTa p.P192L GRIK2_ENST00000413795.1_Missense_Mutation_p.P192L|GRIK2_ENST00000369134.4_Missense_Mutation_p.P143L|GRIK2_ENST00000421544.1_Missense_Mutation_p.P192L|GRIK2_ENST00000358361.3_Missense_Mutation_p.P192L|GRIK2_ENST00000318991.6_Missense_Mutation_p.P192L|GRIK2_ENST00000369137.3_Missense_Mutation_p.P192L NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 192 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ATCAAAGCTCCATCAAGGTAT 0.333000 3 40 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88421072 88421072 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:88421072G>A ENST00000372071.2 + 8 1260 c.1033G>A c.(1033-1035)Gtg>Atg p.V345M OPN4_ENST00000241891.5_Missense_Mutation_p.V334M NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 334 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 CATGAGCTCGGTGCCAGCCGT 0.582000 4 75 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64708943 64708943 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:64708943C>T ENST00000338957.4 + 1 329 c.262C>T c.(262-264)Cgt>Tgt p.R88C ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 77 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGCCTAGATCGTCCAAGTTT 0.502000 14 52 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31301876 31301876 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:31301876G>A ENST00000332585.6 + 13 2532 c.2428G>A c.(2428-2430)Gag>Aag p.E810K OSBP2_ENST00000407373.1_Missense_Mutation_p.E637K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E644K|OSBP2_ENST00000437268.2_Missense_Mutation_p.E552K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E443K|OSBP2_ENST00000382310.3_Missense_Mutation_p.E761K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E809K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E354K NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 810 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GACCCTCAACGAGCACGAGGA 0.672000 4 39 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87912021 87912021 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:87912021A>G ENST00000380079.4 - 3 1020 c.919T>C c.(919-921)Tac>Cac p.Y307H AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.Y307H|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 307 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ACAAGTGTGTAGAGGACATGA 0.443000 6 52 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50607697 50607697 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:50607697G>A ENST00000444124.2 - 3 431 c.231C>T c.(229-231)ttC>ttT p.F77F AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.F77F|DDC_ENST00000357936.5_Silent_p.F77F|DDC_ENST00000426377.1_Intron|DDC_ENST00000380984.4_Silent_p.F77F|DDC_ENST00000489162.1_5'UTR NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 77 2 X approximate tandem repeats. 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) GGAAGTAGGCGAAGAAGTAGG 0.642000 7 25 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621749 171621749 + Translation_Start_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:171621749C>T ENST00000037502.5 - 1 62 c.3G>A c.(1-3)atG>atA p.M1I NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 1 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity p.M1I(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGAAGAACCTCATTGCAGAGG 0.612000 4 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598207 179598207 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179598207C>T ENST00000589042.1 - 54 16037 c.15813G>A c.(15811-15813)caG>caA p.Q5271Q TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.Q4954Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.Q4027Q|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4954 Ig-like 33. 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) CTGCTGTCACCTGGATCAGTT 0.473000 12 209 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945978 72945978 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:72945978C>T ENST00000311131.2 + 3 1241 c.774C>T c.(772-774)ttC>ttT p.F258F P2RY2_ENST00000393597.2_Silent_p.F258F|P2RY2_ENST00000393596.2_Silent_p.F258F NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 258 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) CCCTCTGCTTCCTGCCATTCC 0.637000 10 78 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151393284 151393284 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151393284C>T ENST00000370314.4 - 6 823 c.585G>A c.(583-585)ttG>ttA p.L195L GABRA3_ENST00000535043.1_Silent_p.L195L|GABRA3_ENST00000370311.1_Silent_p.L195L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 195 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAAATCTTCCAAATGCATGG 0.373000 11 59 0 0 1 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262659 159262659 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:159262659G>A ENST00000522287.1 - 0 684 NR_028496.1 GGATTGGACAGCCTTTAAACT 0.403000 4 50 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216965075 216965075 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:216965075C>T ENST00000454545.1 + 4 1030 c.704C>T c.(703-705)tCg>tTg p.S235L TMEM169_ENST00000406027.2_Missense_Mutation_p.S235L|TMEM169_ENST00000295658.4_Missense_Mutation_p.S235L|TMEM169_ENST00000437356.2_Missense_Mutation_p.S235L NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 235 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCAGCTCTCGTGGTCCTGG 0.582000 23 124 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46830681 46830681 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:46830681C>T ENST00000283296.7 - 15 2431 c.2143G>A c.(2143-2145)Gag>Aag p.E715K GPR116_ENST00000362015.4_Missense_Mutation_p.E715K|GPR116_ENST00000265417.7_Missense_Mutation_p.E715K|GPR116_ENST00000545669.1_Missense_Mutation_p.E144K|GPR116_ENST00000456426.2_Missense_Mutation_p.E573K NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 715 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTTCTCTTCTCCTCCCACTGG 0.522000 9 210 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63024834 63024834 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:63024834G>A ENST00000251157.5 - 20 2290 c.2257C>T c.(2257-2259)Cca>Tca p.P753S DOCK7_ENST00000340370.5_Missense_Mutation_p.P753S NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 753 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATTCGGACTGGGAACAGGTGT 0.383000 15 39 0 0 1 0 0 GCG 2641 broad.mit.edu 37 2 163002090 163002090 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:163002090C>T ENST00000418842.2 - 4 606 c.352G>A c.(352-354)Gaa>Aaa p.E118K GCG_ENST00000375497.3_Missense_Mutation_p.E118K NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 118 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) GCAATGAATTCCTTGGCAGCT 0.418000 11 134 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389122 48389122 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48389122C>T ENST00000224600.4 - 1 1869 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 586 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGCTGCCTTCGGGTGTGTCC 0.672000 17 69 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107390038 107390038 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:107390038G>A ENST00000429433.2 - 5 3006 c.2357C>T c.(2356-2358)gCc>gTc p.A786V BEND3_ENST00000369042.1_Missense_Mutation_p.A786V NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 786 BEN 4. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CGGGTAGACGGCTTCCACGTA 0.602000 6 75 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171154963 171154963 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:171154963T>C ENST00000441535.1 + 2 228 c.111T>C c.(109-111)atT>atC p.I37I FMO2_ENST00000529935.1_Intron|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Silent_p.I37I NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 37 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGAAGATATTGGAGGAGTGT 0.453000 24 144 0 0 1 0 0 TRBV5-6 28609 broad.mit.edu 37 7 142131560 142131560 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142131560G>A ENST00000390375.2 - 0 235 AATACTGAAAGATAAACTGGG 0.507000 8 80 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52918723 52918723 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:52918723C>T ENST00000360465.3 + 7 1044 c.618C>T c.(616-618)atC>atT p.I206I ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ACCAAGTAATCCATAACGCAG 0.403000 12 63 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166996154 166996154 + Splice_Site SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:166996154A>G ENST00000061240.2 + 17 2960 c.2314_splice c.e17+1 p.E771_splice TLL1_ENST00000507499.1_Splice_Site_p.E794_splice NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 771 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ATTGCAAGGAAGGTATGGAAC 0.398000 21 98 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271504 59271504 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:59271504C>T ENST00000313253.1 + 1 456 c.456C>T c.(454-456)ggC>ggT p.G152G NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GGATGGGGGGCTTTGTCCACT 0.547000 11 124 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43668348 43668348 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:43668348G>A ENST00000564079.1 + 2 371 c.131G>A c.(130-132)cGa>cAa p.R44Q TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R44Q|TUBGCP4_ENST00000570081.1_3'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 44 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GTCCTGAATCGACTCTGCCGG 0.562000 OREG0023088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 99 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221468 161221468 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:161221468C>T ENST00000327928.4 + 4 1172 c.1172C>T c.(1171-1173)tCc>tTc p.S391F NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 391 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 TATGTTTTTTCCTACCATATT 0.433000 4 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639842 179639842 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179639842G>A ENST00000589042.1 - 29 6820 c.6596C>T c.(6595-6597)tCa>tTa p.S2199L TTN_ENST00000460472.2_Missense_Mutation_p.S2153L|TTN_ENST00000359218.5_Missense_Mutation_p.S2153L|TTN_ENST00000591111.1_Missense_Mutation_p.S2199L|TTN_ENST00000360870.5_Missense_Mutation_p.S2199L|TTN_ENST00000342175.6_Missense_Mutation_p.S2153L|TTN_ENST00000342992.6_Missense_Mutation_p.S2199L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1950 Ig-like 11. 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) AAATGGTTCTGAAGTTTCACA 0.388000 4 58 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124402704 124402704 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:124402704C>T ENST00000338354.3 + 53 7138 c.7032C>T c.(7030-7032)ttC>ttT p.F2344F DMBT1_ENST00000368955.3_Silent_p.F2334F|DMBT1_ENST00000330163.4_Silent_p.F1716F|DMBT1_ENST00000344338.3_Silent_p.F2334F|DMBT1_ENST00000368909.3_Silent_p.F2344F|DMBT1_ENST00000359586.6_Silent_p.F1064F|DMBT1_ENST00000368956.2_Silent_p.F1716F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2344 ZP. 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) GCTTCCGGTTCAGGGCCTTCC 0.582000 10 96 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563283 125563283 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:125563283G>A ENST00000277309.2 + 1 914 c.882G>A c.(880-882)tgG>tgA p.W294* NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 ACAGCCTCTGGAATCGCGATG 0.602000 8 67 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780659 94780659 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94780659G>A ENST00000341584.3 - 2 473 c.327C>T c.(325-327)ttC>ttT p.F109F NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 109 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) GCAGGTGCTGGAAACCCTGGT 0.557000 4 37 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3000155 3000155 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:3000155G>A ENST00000520002.1 - 42 6631 c.6076C>T c.(6076-6078)Cat>Tat p.H2026Y CSMD1_ENST00000602723.1_Missense_Mutation_p.H2026Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2026Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2025Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2026Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2026 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGAAGTCATGATTAGCTTCG 0.413000 21 116 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872281 51872281 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:51872281G>A ENST00000371497.5 + 2 3171 c.2284G>A c.(2284-2286)Gat>Aat p.D762N TSHZ2_ENST00000603338.2_Missense_Mutation_p.D759N|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D759N NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 762 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGAGAACAGCGATCAGCCCAT 0.532000 16 88 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287786 46287786 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:46287786G>A ENST00000378966.3 + 2 934 c.518G>A c.(517-519)cGa>cAa p.R173Q SPERT_ENST00000310521.1_Missense_Mutation_p.R209Q Q8NA61 SPERT_HUMAN spermatid associated 209 cytoplasmic membrane-bounded vesicle p.R209Q(1) NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) TCGCTGGGCCGAGAGGAGAGC 0.652000 6 49 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36552919 36552919 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:36552919C>T ENST00000431169.1 - 22 2086 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K AOAH_ENST00000538464.1_Missense_Mutation_p.G278E|AOAH_ENST00000535891.1_Missense_Mutation_p.G524E|AOAH_ENST00000258749.5_Missense_Mutation_p.G556E NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ATTCTCCTTTCCCAGGATTTG 0.557000 18 100 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533290 88533290 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:88533290G>A ENST00000399271.1 + 3 205 c.85G>A c.(85-87)Gaa>Aaa p.E29K DSPP_ENST00000282478.7_Missense_Mutation_p.E29K|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 29 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAGACATGTCGAAAAATCCAT 0.368000 3 24 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35532654 35532654 + Splice_Site SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:35532654T>A ENST00000262878.4 - 13 1610 c.e13-2 NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ATAGTCCTCCTGGAAAACACA 0.393000 14 70 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029451 219029451 + Missense_Mutation SNP C C G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219029451C>G ENST00000295683.2 - 2 604 c.484G>C c.(484-486)Gga>Cga p.G162R NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 162 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 ATAGACAGTCCCCAGCAGCCA 0.527000 7 30 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9400492 9400492 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:9400492G>A ENST00000378501.2 + 22 2069 c.2054G>A c.(2053-2055)cGa>cAa p.R685Q PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.R685Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.R685Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R697Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R697Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R685Q NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 685 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CGGCCTGATCGAACATTTGAC 0.438000 6 129 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196577421 196577421 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:196577421C>T ENST00000367433.5 - 1 120 c.19G>A c.(19-21)Gaa>Aaa p.E7K KCNT2_ENST00000294725.8_Missense_Mutation_p.E7K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E7K|KCNT2_ENST00000451324.2_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 7 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGGGGCACTTCGCTCTCCAAA 0.502000 7 59 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6926418 6926418 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6926418C>T ENST00000312053.4 + 16 2065 c.2028C>T c.(2026-2028)ttC>ttT p.F676F EMR1_ENST00000450315.3_Silent_p.F499F|EMR1_ENST00000250572.8_Silent_p.F611F|EMR1_ENST00000381407.5_Silent_p.F535F|EMR1_ENST00000381404.4_Silent_p.F624F NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 676 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity 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) ACTACCTTTTCCTTGCCTGCT 0.522000 11 63 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82583655 82583655 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82583655C>T ENST00000423517.2 - 5 6951 c.6614G>A c.(6613-6615)aGc>aAc p.S2205N PCLO_ENST00000333891.8_Missense_Mutation_p.S2205N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2136 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTGGTTATGCTATCCAGGGT 0.418000 9 31 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177071078 177071078 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:177071078G>A ENST00000393643.2 + 14 2270 c.2018G>A c.(2017-2019)aGa>aAa p.R673K WDR17_ENST00000508596.1_Missense_Mutation_p.R673K|WDR17_ENST00000507824.2_Missense_Mutation_p.R680K|WDR17_ENST00000280190.4_Missense_Mutation_p.R697K NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 697 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTGGCAGACAGATCTTGGGAA 0.383000 8 102 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43609989 43609989 + Silent SNP C C T rs75225191 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:43609989C>T ENST00000355710.3 + 11 2173 c.1941C>T c.(1939-1941)atC>atT p.I647I RET_ENST00000340058.5_Silent_p.I647I NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 647 I -> V (in Ref. 6; AAA36786). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCTCCTTCATCGTCTCGGTGC 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596871 179596871 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179596871C>T ENST00000589042.1 - 57 17049 c.16825G>A c.(16825-16827)Gaa>Aaa p.E5609K TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5292K|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4365K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5292 Ig-like 37. 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) CCACTGTCTTCGATGCCAACA 0.423000 35 125 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4953920 4953920 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:4953920A>G ENST00000345988.2 - 3 373 c.284T>C c.(283-285)aTg>aCg p.M95T PPL_ENST00000590782.2_Missense_Mutation_p.M95T NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 95 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGGGTGCTTCATGTGCTTGGC 0.632000 15 92 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22508914 22508914 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22508914G>A ENST00000390448.3 + 0 75 CCAGCATGGAGAAAATGTTGG 0.418000 8 87 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54403937 54403937 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54403937G>A ENST00000263431.3 + 14 1791 c.1509G>A c.(1507-1509)aaG>aaA p.K503K PRKCG_ENST00000542049.1_Silent_p.K390K|PRKCG_ENST00000540413.1_Silent_p.K503K NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 503 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCATGTGTAAGGAGAACGTCT 0.592000 56 298 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151784540 151784540 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:151784540G>A ENST00000255262.3 - 1 300 c.135C>T c.(133-135)ttC>ttT p.F45F NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 45 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ACACGGGGAGGAAGAAGTGGC 0.547000 5 61 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825570 26825570 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:26825570C>T ENST00000541819.2 - 7 848 c.746G>A c.(745-747)tGg>tAg p.W249* GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W108*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W122*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W193*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W193* P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 193 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCCGCCTCGCCAGTAAAACTC 0.517000 5 85 0 0 1 0 0 TMEM14B 81853 broad.mit.edu 37 6 10751400 10751400 + Silent SNP C C T rs115801751 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:10751400C>T ENST00000467317.1 + 4 230 c.135C>T c.(133-135)ttC>ttT p.F45F TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379542.5_Silent_p.F45F|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000473276.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000475942.1_Silent_p.F45F|TMEM14B_ENST00000379530.3_Intron Q9NUH8 TM14B_HUMAN transmembrane protein 14B 45 integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) GGCTGCTCTTCGGCAGTCTAG 0.542000 7 72 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12814300 12814300 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:12814300C>T ENST00000425528.1 - 20 2508 c.2151G>A c.(2149-2151)gaG>gaA p.E717E TNPO2_ENST00000450764.2_Silent_p.E717E|TNPO2_ENST00000588216.1_Silent_p.E717E|TNPO2_ENST00000356861.5_Silent_p.E717E|TNPO2_ENST00000441499.1_Silent_p.E717E|TNPO2_ENST00000592287.1_Silent_p.E717E O14787 TNPO2_HUMAN transportin 2 717 E -> K (in Ref. 1; AAB83973). intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGGAGATGAACTCTGGGTTCA 0.597000 22 112 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236645763 236645763 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:236645763C>T ENST00000359362.5 + 6 646 c.432C>T c.(430-432)tgC>tgT p.C144C EDARADD_ENST00000334232.4_Silent_p.C154C NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 154 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACGAATTGTGCTTCCTGGAGC 0.537000 6 93 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336775 151336775 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151336775G>A ENST00000370314.4 - 10 1642 c.1404C>T c.(1402-1404)gcC>gcT p.A468A RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Silent_p.A468A|GABRA3_ENST00000535043.1_Silent_p.A468A NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 468 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GATTGAATATGGCAAAGAGCA 0.507000 17 58 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131984464 131984464 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:131984464G>A ENST00000356920.5 + 4 973 c.879G>A c.(877-879)aaG>aaA p.K293K PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.K303K NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 293 ATP binding TTTTAATCAAGAAAAAAGCGA 0.343000 10 133 0 0 1 0 0 TF 7018 broad.mit.edu 37 3 133494306 133494306 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:133494306C>T ENST00000402696.3 + 15 2202 c.1717C>T c.(1717-1719)Ctg>Ttg p.L573L TF_ENST00000264998.3_Silent_p.L446L NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 573 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GGCTAAGAATCTGAATGAAAA 0.527000 36 108 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37899207 37899207 + Silent SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37899207T>A ENST00000309156.4 + 4 620 c.363T>A c.(361-363)ggT>ggA p.G121G GRB7_ENST00000445327.2_Silent_p.G144G|GRB7_ENST00000394209.2_Silent_p.G121G|GRB7_ENST00000394204.1_Silent_p.G121G|GRB7_ENST00000394211.3_Silent_p.G121G|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000309185.3_Silent_p.G121G NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 121 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGCAGCAGGTGCCACAGCTC 0.627000 11 57 0 0 1 0 0 SUCLG2 8801 broad.mit.edu 37 3 67570996 67570996 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:67570996C>T ENST00000307227.5 - 5 507 c.480G>A c.(478-480)cgG>cgA p.R160R SUCLG2_ENST00000493112.1_Silent_p.R160R|SUCLG2_ENST00000492795.1_Silent_p.R160R NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 160 ATP-grasp. succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) CATTGCAGGACCGGTCCATCA 0.502000 16 116 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43576027 43576027 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43576027C>T ENST00000406487.1 - 4 887 c.789G>A c.(787-789)gcG>gcA p.A263A NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 263 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.A263A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GGTTAGAGTTCGCGAAGCAAG 0.443000 28 176 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57829573 57829573 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57829573C>T ENST00000371030.2 + 5 4809 c.4809C>T c.(4807-4809)gtC>gtT p.V1603V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1603 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) AAATGACTGTCCCCTGCCCCT 0.502000 11 101 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351265 40351265 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:40351265C>T ENST00000310169.2 + 4 871 c.732C>T c.(730-732)ctC>ctT p.L244L NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 244 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCGTCAACCTCCTCATCCCAT 0.517000 35 431 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65541250 65541250 + Silent SNP G G A rs151327457 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:65541250G>A ENST00000356388.4 - 6 831 c.642C>T c.(640-642)atC>atT p.I214I SPRED2_ENST00000443619.2_Silent_p.I211I NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 214 KBD. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding p.I214I(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TGATGCGCACGATCTCCTCGT 0.622000 8 35 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136265574 136265574 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:136265574T>A ENST00000371957.3 + 12 1222 c.1115T>A c.(1114-1116)gTg>gAg p.V372E C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 372 ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTGGAGGTGGTGGTCACGACC 0.657000 14 36 0 0 1 0 0 SLC25A2 83884 broad.mit.edu 37 5 140683187 140683187 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:140683187G>A ENST00000239451.4 - 1 425 c.246C>T c.(244-246)ttC>ttT p.F82F NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 82 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CGTAGCACATGAAGAGGACCG 0.587000 11 78 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51944770 51944770 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:51944770G>A ENST00000371117.3 - 5 593 c.318C>T c.(316-318)ttC>ttT p.F106F PKHD1_ENST00000340994.4_Silent_p.F106F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 106 IPT/TIG 1; atypical. 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) ATGCTTCCAGGAAGTACAGAC 0.483000 11 172 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242206224 242206224 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242206224G>A ENST00000391975.1 - 3 288 c.61C>T c.(61-63)Ccg>Tcg p.P21S HDLBP_ENST00000391976.2_Missense_Mutation_p.P21S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P57S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P21S NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 21 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATTTGTTGCGGAACCAGCCCA 0.468000 7 72 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428870 10428870 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10428870C>T ENST00000245503.5 - 32 4819 c.4435G>A c.(4435-4437)Gag>Aag p.E1479K MYH2_ENST00000397183.2_Missense_Mutation_p.E1479K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1479 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GAACGGGCCTCCTTCTGGGAG 0.468000 6 45 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29005422 29005422 + Missense_Mutation SNP C C T rs141286646 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:29005422C>T ENST00000282397.4 - 7 1090 c.839G>A c.(838-840)cGa>cAa p.R280Q FLT1_ENST00000541932.1_Missense_Mutation_p.R280Q|FLT1_ENST00000539099.1_Missense_Mutation_p.R280Q NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 280 Ig-like C2-type 3. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GTCAATTCGTCGCCTTACGGA 0.338000 5 36 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7972128 7972128 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7972128C>T ENST00000543909.1 - 14 1849 c.1090G>A c.(1090-1092)Gga>Aga p.G364R SLC2A14_ENST00000396589.2_Missense_Mutation_p.G364R|SLC2A14_ENST00000542505.1_Missense_Mutation_p.G5R|SLC2A14_ENST00000539924.1_Missense_Mutation_p.G379R|SLC2A14_ENST00000542546.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000535295.1_Missense_Mutation_p.G255R|SLC2A14_ENST00000431042.2_Missense_Mutation_p.G341R|SLC2A14_ENST00000340749.5_Missense_Mutation_p.G341R Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 364 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) GCCATCCCTCCAAGGCCTATC 0.418000 5 52 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6626600 6626600 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:6626600C>T ENST00000379953.2 + 4 650 c.298C>T c.(298-300)Ccc>Tcc p.P100S LY86_ENST00000230568.4_Missense_Mutation_p.P100S O95711 LY86_HUMAN lymphocyte antigen 86 100 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) TTTCTCCTATCCCATCTGTGA 0.483000 5 51 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107815055 107815055 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107815055C>T ENST00000328300.6 + 8 697 c.453C>T c.(451-453)atC>atT p.I151I COL4A5_ENST00000361603.2_Silent_p.I151I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 151 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCCCTGGGATCCCAGGTATGA 0.343000 Alport syndrome with Diffuse Leiomyomatosis 13 26 0 0 1 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12952812 12952812 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:12952812G>A ENST00000235347.4 - 4 1439 c.1360C>T c.(1360-1362)Ccc>Tcc p.P454S NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 454 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CAAGGGACGGGACCAAAGAAG 0.532000 13 31 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117116893 117116893 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:117116893G>A ENST00000310357.3 - 5 1675 c.1654C>T c.(1654-1656)Cat>Tat p.H552Y GPRC6A_ENST00000530250.1_Missense_Mutation_p.H377Y|GPRC6A_ENST00000368549.3_Missense_Mutation_p.H481Y NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 552 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTAGTGTAATGATTTTCAGGA 0.363000 9 104 0 0 1 0 0 OSTN 344901 broad.mit.edu 37 3 190967872 190967872 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:190967872C>T ENST00000339051.1 + 3 364 c.364C>T c.(364-366)Cgg>Tgg p.R122W OSTN_ENST00000445281.1_Intron NM_198184.1 NP_937827.1 P61366 OSTN_HUMAN osteocrin 122 cell differentiation|multicellular organismal development|ossification hormone activity kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2) 13 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) CCCCATGGATCGGATTGGTAG 0.353000 27 62 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21698751 21698751 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21698751C>T ENST00000388958.3 + 7 418 c.417C>T c.(415-417)atC>atT p.I139I OTOA_ENST00000388956.4_Silent_p.I60I|OTOA_ENST00000286149.4_Silent_p.I139I NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 139 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AAGACATCATCATCGACTTAG 0.517000 24 106 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940120 31940120 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31940120G>A ENST00000375331.2 + 2 428 c.262G>A c.(262-264)Gaa>Aaa p.E88K STK19_ENST00000375333.2_Missense_Mutation_p.E88K NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 88 nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E88K(1) skin(5)|upper_aerodigestive_tract(2) 7 CTCTGCGCCGGAAGACCCTAT 0.582000 6 117 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269686 150269686 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150269686A>G ENST00000255945.2 + 3 703 c.528A>G c.(526-528)caA>caG p.Q176Q GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.Q190Q NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 176 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGACATTCAAGACTTGATGG 0.493000 6 109 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120483292 120483292 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:120483292G>A ENST00000256646.2 - 19 3288 c.3069C>T c.(3067-3069)ctC>ctT p.L1023L NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1023 EGF-like 26; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGATCTCATGGAGGCAGAAGG 0.522000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 28 74 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58206842 58206842 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:58206842G>A ENST00000302572.2 - 1 804 c.783C>T c.(781-783)aaC>aaT p.N261N NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) AATGGCTGGAGTTAGGTCGTA 0.463000 3 39 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806543 54806543 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:54806543G>A ENST00000306858.7 + 5 2890 c.2774G>A c.(2773-2775)cGa>cAa p.R925Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 925 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GAGCTTCTACGATCTCATTCA 0.438000 20 86 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53074101 53074101 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:53074101G>A ENST00000276480.7 - 14 2111 c.1428C>T c.(1426-1428)ttC>ttT p.F476F NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 476 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACGGGAAATTGAATTCAATTT 0.418000 16 60 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138417781 138417781 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:138417781G>A ENST00000310018.2 - 17 2031 c.1749C>T c.(1747-1749)atC>atT p.I583I ATP6V0A4_ENST00000393054.1_Silent_p.I583I|ATP6V0A4_ENST00000353492.4_Silent_p.I583I NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 583 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGACACAGGATAAAAATCA 0.428000 30 46 0 0 1 0 0 RNF24 11237 broad.mit.edu 37 20 3914733 3914733 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:3914733G>A ENST00000336095.5 - 6 675 c.424C>T c.(424-426)Cct>Tct p.P142S RNF24_ENST00000432261.2_Missense_Mutation_p.P163S|RNF24_ENST00000545616.1_Missense_Mutation_p.P163S|RNF24_ENST00000358395.6_Missense_Mutation_p.P142S NM_007219.3 NP_009150.1 Q9Y225 RNF24_HUMAN ring finger protein 24 142 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 TCTGCCCCAGGAAGGGGCCCC 0.567000 16 84 0 0 1 0 0 C9orf135 138255 broad.mit.edu 37 9 72521021 72521021 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:72521021C>T ENST00000377197.3 + 6 746 c.659C>T c.(658-660)cCc>cTc p.P220L C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 220 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 AAACTCTATCCCTTGACTAGT 0.353000 12 45 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44932133 44932133 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:44932133G>A ENST00000296125.4 + 4 407 c.339G>A c.(337-339)ctG>ctA p.L113L NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 113 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATGCCATCCTGGGCAAGTACC 0.463000 7 67 0 0 1 0 0 CHRD 8646 broad.mit.edu 37 3 184100211 184100211 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:184100211C>T ENST00000204604.1 + 7 980 c.734C>T c.(733-735)tCt>tTt p.S245F CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000450923.1_Missense_Mutation_p.S245F|CHRD_ENST00000348986.3_Missense_Mutation_p.S245F|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 245 CHRD 1. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTCGGTTGTCTCTGCGGCTC 0.627000 44 235 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845187 123845187 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:123845187C>T ENST00000369005.1 + 4 3512 c.3172C>T c.(3172-3174)Ccc>Tcc p.P1058S TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1058S|TACC2_ENST00000334433.3_Missense_Mutation_p.P1058S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1058S|TACC2_ENST00000515603.1_Missense_Mutation_p.P1058S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1058 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGATGCAGTTCCCTGCCTGCC 0.627000 10 59 0 0 1 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539804 142539804 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:142539804C>T ENST00000295992.3 - 8 1339 c.1033G>A c.(1033-1035)Gga>Aga p.G345R PCOLCE2_ENST00000485766.1_Missense_Mutation_p.G265E NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 345 NTR. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GCCAAATTTCCCTCTTTGTAG 0.502000 6 27 0 0 1 0 0 GDF15 9518 broad.mit.edu 37 19 18497266 18497266 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:18497266C>T ENST00000595973.1 + 2 818 c.267C>T c.(265-267)ctC>ctT p.L89L GDF15_ENST00000252809.3_Silent_p.L89L Q99988 GDF15_HUMAN growth differentiation factor 15 89 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 TCCGGATACTCACGCCAGAAG 0.577000 6 27 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168310311 168310311 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:168310311G>A ENST00000519560.1 - 5 863 c.444C>T c.(442-444)atC>atT p.I148I SLIT3_ENST00000404867.3_Silent_p.I148I|SLIT3_ENST00000332966.8_Silent_p.I148I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 148 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCCTCGGGATCCCCTGGA 0.473000 5 64 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51791468 51791468 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:51791468G>A ENST00000251076.5 - 18 4240 c.3953C>T c.(3952-3954)tCt>tTt p.S1318F DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1318F NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1318 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AACATCATCAGAAATAGCTGT 0.393000 9 88 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99799644 99799644 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:99799644G>A ENST00000259470.5 - 4 535 c.286C>T c.(286-288)Cga>Tga p.R96* CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Nonsense_Mutation_p.R96* NM_001333.3 NP_001324.2 cathepsin V TTCTGGTTTCGAAAGCAACCC 0.423000 19 64 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139302278 139302278 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:139302278C>T ENST00000298537.7 - 3 544 c.333_splice c.e3+1 p.K111_splice SDCCAG3_ENST00000357365.3_Splice_Site_p.K134_splice|SDCCAG3_ENST00000371725.3_Splice_Site_p.K61_splice NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 134 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) GTGGATTTACCTTTGCATAAA 0.522000 19 51 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33135354 33135354 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:33135354G>A ENST00000306065.4 - 5 560 c.402C>T c.(400-402)tcC>tcT p.S134S ANKRD27_ENST00000587352.1_Silent_p.S134S|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 134 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TGGTTTTCAGGGAAAAGGGAT 0.493000 21 369 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15634241 15634241 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:15634241G>A ENST00000378076.3 - 22 2627 c.2274C>T c.(2272-2274)ttC>ttT p.F758F NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 758 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 TTTGGAGATCGAAGTTAATGC 0.393000 4 24 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987731 61987731 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:61987731G>A ENST00000409186.1 - 5 2606 c.501C>T c.(499-501)tcC>tcT p.S167S PCDH20_ENST00000409204.4_Silent_p.S167S Q8N6Y1 PCD20_HUMAN protocadherin 20 140 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGGAGGAGATGGAAACGCTGC 0.562000 7 29 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177603 7177603 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:7177603G>A ENST00000406697.1 + 15 2343 c.1715G>A c.(1714-1716)cGa>cAa p.R572Q C1S_ENST00000402681.3_Missense_Mutation_p.R405Q|C1S_ENST00000360817.5_Missense_Mutation_p.R572Q|C1S_ENST00000328916.3_Missense_Mutation_p.R572Q P09871 C1S_HUMAN complement component 1, s subcomponent 572 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGCTGGGGCCGAACAGAGAAG 0.537000 3 32 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4159774 4159774 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:4159774G>A ENST00000078445.2 + 4 718 c.571G>A c.(571-573)Gac>Aac p.D191N CREB3L3_ENST00000602147.1_Missense_Mutation_p.D191N|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.D191N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.D190N NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 191 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCAGTGGGGACCTGGTGAG 0.607000 12 63 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415285 210415285 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:210415285C>T ENST00000367012.3 + 4 904 c.674C>T c.(673-675)tCc>tTc p.S225F SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 225 Ser-rich. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) gcctcttcttcctcctcatct 0.498000 10 114 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227953440 227953440 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:227953440C>T ENST00000396625.3 - 22 1759 c.1552G>A c.(1552-1554)Ggg>Agg p.G518R COL4A4_ENST00000329662.7_Missense_Mutation_p.G518R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 518 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) CCAGGGAGCCCCAAGTCTCCC 0.597000 11 101 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759398 6759398 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:6759398A>G ENST00000378827.4 + 3 2072 c.853A>G c.(853-855)Aaa>Gaa p.K285E NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 285 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ACGTCAAGCCAAACACAAACA 0.493000 12 35 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179605011 179605011 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:179605011G>A ENST00000444136.1 + 9 1759 c.1509G>A c.(1507-1509)atG>atA p.M503I TDRD5_ENST00000367614.1_Missense_Mutation_p.M503I|TDRD5_ENST00000294848.8_Missense_Mutation_p.M503I NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 503 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AAGACATGATGATTGAAATGC 0.388000 4 41 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112021360 112021360 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:112021360G>A ENST00000354650.3 - 9 1415 c.809C>T c.(808-810)tCc>tTc p.S270F FYN_ENST00000368678.4_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000368682.3_Intron|FYN_ENST00000368667.2_Missense_Mutation_p.S270F|FYN_ENST00000538466.1_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000476769.2_5'UTR NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 270 axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CAACTGCAGGGATTCTCGAGG 0.493000 11 100 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387948 157387948 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:157387948G>A ENST00000389413.3 - 16 2494 c.2391C>T c.(2389-2391)acC>acT p.T797T PTPRN2_ENST00000409483.1_Silent_p.T788T|PTPRN2_ENST00000389418.4_Silent_p.T826T|PTPRN2_ENST00000404321.2_Silent_p.T849T|PTPRN2_ENST00000389416.4_Silent_p.T809T NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 826 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGTCAGCCACGGTGGCGGGCA 0.498000 8 49 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24302258 24302258 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:24302258G>A ENST00000378454.3 - 3 664 c.363C>T c.(361-363)atC>atT p.I121I NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 121 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TCCTGCTATGGATTACTGGTT 0.358000 13 54 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189850466 189850466 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:189850466C>T ENST00000304636.3 + 4 579 c.409C>T c.(409-411)Ccc>Tcc p.P137S COL3A1_ENST00000317840.5_Missense_Mutation_p.P137S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 137 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTCTCCTGGCCCCCCTGGAAT 0.433000 9 26 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863246 55863246 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55863246A>C ENST00000327335.4 - 1 676 c.677T>G c.(676-678)tTc>tGc p.F226C RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 AGCTGAAGGGAATTTCAGAAT 0.358000 6 100 0 0 1 0 0 KIAA1147 57189 broad.mit.edu 37 7 141385420 141385420 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:141385420G>A ENST00000536163.1 - 3 384 c.385C>T c.(385-387)Ccc>Tcc p.P129S KIAA1147_ENST00000482493.1_Missense_Mutation_p.P38S NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 129 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) CCGAAGAAGGGCCCCTTTCGG 0.517000 6 47 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086684 9086684 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9086684C>T ENST00000397910.4 - 1 5334 c.5131G>A c.(5131-5133)Gga>Aga p.G1711R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1711 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGTGACTCCTTCAGTAGTT 0.498000 8 134 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130408592 130408592 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:130408592C>T ENST00000370904.1 - 24 4615 c.3705G>A c.(3703-3705)ctG>ctA p.L1235L IGSF1_ENST00000361420.3_Silent_p.L1244L|IGSF1_ENST00000370903.3_Silent_p.L1249L|IGSF1_ENST00000370910.1_Silent_p.L1235L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1244 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCACCAGCTCCAGGGGATCAC 0.537000 32 73 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154520897 154520897 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:154520897T>C ENST00000265198.4 - 10 967 c.812A>G c.(811-813)aAc>aGc p.N271S IPCEF1_ENST00000367220.4_Missense_Mutation_p.N272S|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.N272S|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000519344.1_Missense_Mutation_p.N243S NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 AGATAAAGAGTTCAAAAATCC 0.418000 19 77 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040562 103040562 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:103040562C>T ENST00000264260.2 + 4 951 c.362C>T c.(361-363)tCt>tTt p.S121F IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 121 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GTGAATAATTCTGGGTCATAT 0.358000 7 62 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44069477 44069477 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:44069477G>A ENST00000359947.4 + 16 2994 c.2654G>A c.(2653-2655)gGg>gAg p.G885E PTPRF_ENST00000438120.1_Missense_Mutation_p.G876E|PTPRF_ENST00000372414.3_Missense_Mutation_p.G885E|PTPRF_ENST00000372413.3_Missense_Mutation_p.G876E|PTPRF_ENST00000422171.2_Missense_Mutation_p.G233E|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 885 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGCACAAGGGGACCACCTAC 0.637000 21 71 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23410681 23410681 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:23410681C>T ENST00000379361.4 + 3 1906 c.1046C>T c.(1045-1047)tCc>tTc p.S349F NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 349 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GAAATGTTATCCTCCTGGAGG 0.413000 11 16 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671594 39671594 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:39671594G>A ENST00000398930.1 + 4 765 c.411G>A c.(409-411)gaG>gaA p.E137E KCNJ15_ENST00000398934.1_Silent_p.E137E|KCNJ15_ENST00000398938.2_Silent_p.E137E|KCNJ15_ENST00000398932.1_Silent_p.E137E|KCNJ15_ENST00000328656.3_Silent_p.E137E Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 137 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CCATCACAGAGGAATGTCCTC 0.507000 12 75 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212832 26212832 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:26212832C>T ENST00000379034.1 + 2 1018 c.869C>T c.(868-870)tCg>tTg p.S290L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 290 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CTCCTGATGTCGCTCCTGGTT 0.547000 35 70 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36336810 36336810 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:36336810G>A ENST00000373738.1 - 5 1383 c.538C>T c.(538-540)Ctt>Ttt p.L180F ETV7_ENST00000373737.4_Missense_Mutation_p.L158F|ETV7_ENST00000538992.1_Missense_Mutation_p.L84F|ETV7_ENST00000339796.5_Missense_Mutation_p.L235F|ETV7_ENST00000340181.4_Missense_Mutation_p.L235F NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 235 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CGGGTATCAAGGAGCAGCTGA 0.537000 10 121 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 54015068 54015068 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:54015068G>A ENST00000396328.1 - 3 430 c.191C>T c.(190-192)tCg>tTg p.S64L WDR72_ENST00000557913.1_Missense_Mutation_p.S64L|WDR72_ENST00000360509.5_Missense_Mutation_p.S64L|WDR72_ENST00000559418.1_Missense_Mutation_p.S64L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 64 p.S64L(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) ACATGTTACCGAAGCTGAATG 0.378000 18 116 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14836052 14836052 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:14836052C>T ENST00000261170.3 - 4 671 c.535G>A c.(535-537)Gat>Aat p.D179N RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 179 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.D179N(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AAGGGCAGATCGTTGGTTTTC 0.378000 12 48 0 0 1 0 0 HSD3B2 3284 broad.mit.edu 37 1 119964707 119964707 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:119964707C>T ENST00000543831.1 + 4 832 c.583C>T c.(583-585)Cca>Tca p.P195S HSD3B2_ENST00000369416.3_Missense_Mutation_p.P195S NM_001166120.1 NP_001159592.1 P26439 3BHS2_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 195 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GGAAGGAGGCCCATTCCTTTC 0.463000 23 74 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160998245 160998245 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:160998245G>A ENST00000447678.1 - 29 4674 c.4554C>T c.(4552-4554)gtC>gtT p.V1518V LPA_ENST00000316300.5_Silent_p.V1518V NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4026 Kringle 14. 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) TCCTTCCTGTGACAGTGGTGG 0.443000 24 97 0 0 1 0 0 GIPC2 54810 broad.mit.edu 37 1 78601371 78601371 + Missense_Mutation SNP G G A rs138793126 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:78601371G>A ENST00000370759.3 + 6 1085 c.892G>A c.(892-894)Gaa>Aaa p.E298K NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 298 cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 GTTCCCAGACGAATTTGTCTT 0.423000 3 29 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757526 242757526 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:242757526G>A ENST00000391969.2 + 5 1318 c.607G>A c.(607-609)Gat>Aat p.D203N NEU4_ENST00000404257.1_Missense_Mutation_p.D215N|NEU4_ENST00000405370.1_Missense_Mutation_p.D203N|NEU4_ENST00000325935.6_Missense_Mutation_p.D216N|NEU4_ENST00000407683.1_Missense_Mutation_p.D203N NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 203 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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;0.0825) CTTCTACAGCGATGACCACGG 0.687000 4 13 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47424652 47424652 + Splice_Site SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:47424652T>C ENST00000377045.4 + 6 654 c.458_splice c.e6-1 p.F154_splice ARAF_ENST00000377039.2_Splice_Site_p.F154_splice|ARAF_ENST00000290277.6_Splice_Site_p.F154_splice NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 154 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GCCCTCAAGGTTCTACCACAG 0.617000 5 22 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869776 151869776 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151869776G>A ENST00000329342.5 + 3 691 c.466G>A c.(466-468)Gat>Aat p.D156N NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 156 MAGE. protein binding p.D156Y(1) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CAAAGCTTCCGATTCCTTGCA 0.552000 20 72 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21042583 21042583 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21042583C>T ENST00000261383.3 - 37 5222 c.5223G>A c.(5221-5223)gtG>gtA p.V1741V DNAH3_ENST00000415178.1_Silent_p.V1741V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1741 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCTTGTACTCCACAGCAAACT 0.493000 11 37 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189585720 189585720 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189585720G>A ENST00000264731.3 + 7 1070 c.981G>A c.(979-981)ctG>ctA p.L327L TP63_ENST00000392461.3_Silent_p.L233L|TP63_ENST00000440651.2_Silent_p.L327L|TP63_ENST00000354600.5_Silent_p.L233L|TP63_ENST00000437221.1_Silent_p.L233L|TP63_ENST00000418709.2_Silent_p.L327L|TP63_ENST00000456148.1_Silent_p.L233L|TP63_ENST00000449992.1_Silent_p.L148L|TP63_ENST00000392463.2_Silent_p.L233L|TP63_ENST00000320472.5_Silent_p.L327L|TP63_ENST00000382063.4_Silent_p.L242L|TP63_ENST00000392460.3_Silent_p.L327L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 327 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTGTTACTCTGGAAACCAGAG 0.403000 HNSCC(45;0.13) 7 26 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498879 110498879 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110498879G>A ENST00000378402.5 + 59 9813 c.9709G>A c.(9709-9711)Gaa>Aaa p.E3237K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3237 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACTGCAGCTGAAAAATACCA 0.418000 HNSCC(38;0.096) 17 86 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160806 12160806 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:12160806G>A ENST00000263035.4 + 15 2523 c.2461G>A c.(2461-2463)Gaa>Aaa p.E821K NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 821 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GAAACAAAGAGAATCTCTGGG 0.473000 27 164 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78091445 78091445 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:78091445C>T ENST00000302262.3 + 17 2597 c.2378C>T c.(2377-2379)cCc>cTc p.P793L GAA_ENST00000390015.3_Missense_Mutation_p.P793L NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 793 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCTGCAGCTCCCCGTGAGCCA 0.677000 4 52 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232951 1232951 + Silent SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:1232951C>A ENST00000324642.3 + 3 510 c.387C>A c.(385-387)tcC>tcA p.S129S SLC6A18_ENST00000296821.4_Silent_p.S129S NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 129 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCTCAACTCCTTCCAGCACC 0.647000 5 78 8.12818e-05 8.18308e-05 1 1 0 LIPF 8513 broad.mit.edu 37 10 90435980 90435980 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:90435980G>A ENST00000394375.3 + 10 1046 c.933G>A c.(931-933)ggG>ggA p.G311G LIPF_ENST00000355843.2_Silent_p.G268G|LIPF_ENST00000238983.4_Silent_p.G301G|LIPF_ENST00000496797.1_3'UTR NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 301 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TTAAGTCTGGGAAATTCCAAG 0.308000 4 29 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169329 138169329 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:138169329G>A ENST00000409968.1 + 14 3024 c.2846G>A c.(2845-2847)gGa>gAa p.G949E THSD7B_ENST00000413152.2_Missense_Mutation_p.G918E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G949E|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCACCGAGGACTGCGGGTA 0.488000 13 91 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028385 21028385 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:21028385G>A ENST00000381545.3 + 9 1163 c.944G>A c.(943-945)gGa>gAa p.G315E LST3_ENST00000540229.1_Missense_Mutation_p.G315E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G315E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G315E NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 315 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ACCAACCAAGGAAAAAATGTT 0.299000 7 24 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799034 16799034 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:16799034C>T ENST00000187762.2 + 6 843 c.752C>T c.(751-753)tCg>tTg p.S251L NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 251 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CTGTTTGGTTCGGCCTGCGGG 0.642000 44 262 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60499261 60499261 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:60499261C>T ENST00000371201.3 - 7 1023 c.916G>A c.(916-918)Gag>Aag p.E306K C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 306 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTCAAAATCTCCAACAGACTC 0.473000 15 117 0 0 1 0 0 LYZL2 119180 broad.mit.edu 37 10 30915752 30915752 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:30915752G>A ENST00000375318.2 - 2 287 c.231C>T c.(229-231)ttC>ttT p.F77F NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 31 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) CAGCCCTCGAGAATATTTTTG 0.507000 8 86 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5289807 5289807 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5289807C>T ENST00000380237.1 - 5 680 c.336G>A c.(334-336)gtG>gtA p.V112V HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.V112V|HBG2_ENST00000380259.2_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 112 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGAATAATCACCATCACGT 0.468000 21 144 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156940505 156940505 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156940505C>T ENST00000257527.4 - 8 753 c.675G>A c.(673-675)aaG>aaA p.K225K ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.K227K|ADAM19_ENST00000517905.1_Silent_p.K225K NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 225 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCGTCGATTCTTCTGAAACT 0.473000 17 76 0 0 1 0 0 ZBTB11-AS1 100009676 broad.mit.edu 37 3 101395684 101395684 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:101395684G>A ENST00000536865.1 + 1 411 c.196G>A c.(196-198)Ggt>Agt p.G66S ZBTB11_ENST00000312938.4_Silent_p.T25T|ZBTB11_ENST00000461821.1_Silent_p.T25T CATTGCCCTCGGTGCCCGGCG 0.657000 7 25 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344791 20344791 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:20344791G>A ENST00000298642.2 + 1 401 c.365G>A c.(364-366)aGg>aAg p.R122K NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTTTGATAGGTATATTGCA 0.453000 8 279 0 0 1 0 0 STK26 51765 broad.mit.edu 37 X 131202562 131202562 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:131202562C>T ENST00000394334.2 + 6 815 c.562C>T c.(562-564)Cct>Tct p.P188S MST4_ENST00000496850.1_Missense_Mutation_p.P188S|MST4_ENST00000394335.2_Missense_Mutation_p.P111S|MST4_ENST00000354719.6_Missense_Mutation_p.P188S|MST4_ENST00000481105.1_Missense_Mutation_p.P210S NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 188 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) TTGGATGGCTCCTGAAGTTAT 0.363000 17 51 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466546 56466546 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56466546G>A ENST00000291971.3 + 3 1193 c.1122G>A c.(1120-1122)gaG>gaA p.E374E NLRP8_ENST00000590542.1_Silent_p.E374E NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 374 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GACACACAGAGGAGGGAGACC 0.483000 17 78 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567264 136567264 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:136567264C>T ENST00000264162.2 - 8 2663 c.2653G>A c.(2653-2655)Gaa>Aaa p.E885K NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 885 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGAACTTTTCCCAAACGACT 0.493000 15 139 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046789 9046789 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9046789C>T ENST00000397910.4 - 5 35045 c.34842G>A c.(34840-34842)acG>acA p.T11614T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11616 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 CACCTGACCTCGTGTCTACTC 0.507000 12 90 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20891473 20891473 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:20891473C>T ENST00000263205.7 + 2 207 c.138C>T c.(136-138)ttC>ttT p.F46F MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Silent_p.F46F|MED15_ENST00000425759.2_Silent_p.F6F|MED15_ENST00000382974.2_Silent_p.F46F|MED15_ENST00000541476.1_Silent_p.F20F|MED15_ENST00000406969.1_Silent_p.F20F NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 46 Interaction with SREBF1. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GCCATGTTTTCCTGAAGGCCA 0.527000 7 37 0 0 1 0 0 LINC01098 285501 broad.mit.edu 37 4 178896971 178896971 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:178896971G>A ENST00000507870.1 + 5 636 c.174G>A c.(172-174)atG>atA p.M58I lung(8)|prostate(1) 9 AGAAGACAATGAGGTCAGCTA 0.428000 4 63 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105421075 105421075 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:105421075G>A ENST00000264122.4 - 12 2143 c.1822C>T c.(1822-1824)Cga>Tga p.R608* CBLB_ENST00000405772.1_Nonsense_Mutation_p.R608*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.R630*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.R608* NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 608 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CCTAGGAGTCGACATCCCACA 0.537000 Mis S AML 8 99 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033623 82033623 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:82033623C>T ENST00000328945.5 - 3 402 c.275G>A c.(274-276)cGa>cAa p.R92Q SDR42E1_ENST00000534209.1_5'UTR NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 92 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GATCAGGTTTCGATTGAGTTG 0.502000 18 80 0 0 1 0 0 SLC6A13 6540 broad.mit.edu 37 12 346429 346429 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:346429C>T ENST00000343164.4 - 6 643 c.591G>A c.(589-591)ggG>ggA p.G197G SLC6A13_ENST00000445055.2_Silent_p.G105G NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 197 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GGTGCTGGATCCCATCAGAGA 0.607000 13 80 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14891493 14891493 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrY:14891493C>T ENST00000338981.3 + 22 4009 c.3064C>T c.(3064-3066)Ctt>Ttt p.L1022F USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 1022 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 CATCTCTTTCCTTTGGCAAGT 0.358000 7 43 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43023388 43023388 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43023388C>T ENST00000161559.6 - 5 1093 c.e5-1 CEACAM1_ENST00000403444.3_Splice_Site|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000308072.4_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) GGACTTAGCTCTGTGGACAAG 0.507000 9 105 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616312 92616312 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:92616312C>T ENST00000298047.6 + 23 12707 c.12690C>T c.(12688-12690)gtC>gtT p.V4230V FAT3_ENST00000533797.1_Silent_p.V565V|FAT3_ENST00000525166.1_Silent_p.V4080V|FAT3_ENST00000409404.2_Silent_p.V4230V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4230 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V4230V(2)|p.V805V(1) 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) CCCCGCAGGTCCCCGTGCGCC 0.657000 TCGA Ovarian(4;0.039) 25 125 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175332955 175332955 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:175332955G>A ENST00000367674.1 - 13 3304 c.2596C>T c.(2596-2598)Ccc>Tcc p.P866S TNR_ENST00000263525.2_Missense_Mutation_p.P866S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 866 Fibronectin type-III 7. 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) TCTTTTGGGGGATCAATTCCT 0.433000 6 48 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47582349 47582349 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:47582349G>A ENST00000334194.3 + 11 1297 c.1294G>A c.(1294-1296)Gaa>Aaa p.E432K CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 432 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATTCTCCAGGGAAAATTCTGA 0.408000 6 29 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30701930 30701930 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:30701930G>A ENST00000256246.2 - 1 4678 c.4604C>T c.(4603-4605)cCg>cTg p.P1535L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1535 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTGTTAAGCGGATTAGAAAC 0.353000 9 153 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78850224 78850224 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:78850224T>C ENST00000286627.5 - 10 2220 c.1268A>G c.(1267-1269)aAc>aGc p.N423S KCNMA1_ENST00000404857.1_Missense_Mutation_p.N423S|KCNMA1_ENST00000286628.8_Missense_Mutation_p.N423S|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N423S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N423S|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N423S|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N423S|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N423S NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 423 RCK N-terminal. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTTCAGGAAGTTGGAAACACT 0.532000 16 80 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216420210 216420210 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:216420210G>A ENST00000366943.2 - 13 2912 c.2526C>T c.(2524-2526)ttC>ttT p.F842F USH2A_ENST00000366942.3_Silent_p.F842F|USH2A_ENST00000307340.3_Silent_p.F842F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 842 Laminin EGF-like 6. 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) GCAGACAGAGGAAAGAATTAT 0.438000 HNSCC(13;0.011) 11 130 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935417 151935417 + Silent SNP G G A rs149076914 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:151935417G>A ENST00000393902.3 - 3 1317 c.750C>T c.(748-750)ttC>ttT p.F250F MAGEA3_ENST00000370278.3_Silent_p.F250F P43357 MAGA3_HUMAN melanoma antigen family A, 3 250 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTGCACGAAATGTTGGG 0.537000 29 110 0 0 1 0 0 ANGPT4 51378 broad.mit.edu 37 20 865868 865868 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:865868G>T ENST00000381922.3 - 4 790 c.688C>A c.(688-690)Cag>Aag p.Q230K ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q230K NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 230 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GCGGCGCTCTGGCGGCTCAGC 0.672000 3 5 1 1 1 1 0 NLRP13 126204 broad.mit.edu 37 19 56435994 56435994 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:56435994G>A ENST00000588751.1 - 3 443 c.419C>T c.(418-420)cCa>cTa p.P140L NLRP13_ENST00000342929.3_Missense_Mutation_p.P140L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 140 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TTCTTGGTTTGGATCTTGGCA 0.423000 7 51 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131921963 131921963 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:131921963C>T ENST00000286355.5 - 6 3723 c.1631G>A c.(1630-1632)gGa>gAa p.G544E ADCY8_ENST00000377928.3_Missense_Mutation_p.G544E NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 544 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCCAGGGATTCCTCCAGATTC 0.463000 HNSCC(32;0.087) 6 129 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1670052 1670052 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:1670052C>T ENST00000252804.4 - 10 1275 c.1225G>A c.(1225-1227)Gag>Aag p.E409K PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 409 Ig-like C2-type 2. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CACGCATACTCTCCGCTGTCC 0.592000 5 46 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41815067 41815067 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:41815067G>A ENST00000304330.4 - 19 2754 c.2638C>T c.(2638-2640)Ccc>Tcc p.P880S RPAP1_ENST00000561603.1_Missense_Mutation_p.P880S NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 880 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTGAGACGGGGGCAGCCTCCC 0.632000 4 42 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213059 9213059 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9213059G>A ENST00000305456.2 - 1 923 c.924C>T c.(922-924)ccC>ccT p.P308P NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TATAGATAAAGGGGTTCACCA 0.448000 10 77 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48252354 48252354 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:48252354C>T ENST00000400384.2 + 5 1912 c.876C>T c.(874-876)atC>atT p.I292I MAPK4_ENST00000540640.1_Silent_p.I81I|MAPK4_ENST00000592595.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 292 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGGAGAAGATCCTGACCTTTA 0.552000 12 83 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161781186 161781186 + Missense_Mutation SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:161781186A>G ENST00000366898.1 - 11 1321 c.1219T>C c.(1219-1221)Tcc>Ccc p.S407P PARK2_ENST00000338468.3_Missense_Mutation_p.S216P|PARK2_ENST00000366897.1_Missense_Mutation_p.S379P|PARK2_ENST00000366896.1_Missense_Mutation_p.S258P|PARK2_ENST00000366894.1_Missense_Mutation_p.S216P NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 407 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GTTTCTTTGGAGGCTGCTTCC 0.512000 13 113 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139572104 139572104 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139572104G>A ENST00000263552.6 + 6 701 c.163G>A c.(163-165)Gga>Aga p.G55R TBXAS1_ENST00000539806.1_Missense_Mutation_p.G55R|TBXAS1_ENST00000336425.5_Missense_Mutation_p.G54R|TBXAS1_ENST00000455353.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000458722.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000448866.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000414508.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000411653.1_Missense_Mutation_p.G54R|TBXAS1_ENST00000436047.2_Missense_Mutation_p.G55R|TBXAS1_ENST00000425687.1_5'UTR NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 54 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) TCCTTTCATTGGAAACTTGAC 0.478000 8 62 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10904511 10904511 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:10904511T>C ENST00000314646.5 + 8 1272 c.1108T>C c.(1108-1110)Ttc>Ctc p.F370L DNM2_ENST00000355667.6_Missense_Mutation_p.F370L|DNM2_ENST00000389253.4_Missense_Mutation_p.F370L|DNM2_ENST00000359692.6_Missense_Mutation_p.F370L|DNM2_ENST00000585892.1_Missense_Mutation_p.F370L|DNM2_ENST00000408974.4_Missense_Mutation_p.F370L P50570 DYN2_HUMAN dynamin 2 370 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCACGAGCGGTTCCCATTTGA 0.642000 """F, N, Splice, Mis, O""" ETP ALL 11 109 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16411695 16411695 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:16411695C>A ENST00000334133.4 - 6 1190 c.918G>T c.(916-918)aaG>aaT p.K306N RFTN1_ENST00000432519.1_Missense_Mutation_p.K270N|RFTN1_ENST00000483671.1_5'UTR NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 306 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 TCTGGCCATTCTTGGAGACAT 0.517000 32 126 1.62565e-12 1.64636e-12 1 1 0 PREX1 57580 broad.mit.edu 37 20 47267432 47267432 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:47267432C>T ENST00000396220.1 - 23 2839 c.2817_splice c.e23+1 p.E939_splice PREX1_ENST00000371941.3_Splice_Site_p.E939_splice Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 939 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACGCAGGCACCTCCTGGTAGC 0.567000 3 46 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117228820 117228820 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:117228820C>T ENST00000355044.3 + 24 3761 c.3635C>T c.(3634-3636)tCc>tTc p.S1212F ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.S263F NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1212 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGCAACTTTTCCTGGCCTATT 0.289000 7 42 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71928964 71928964 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:71928964C>T ENST00000266674.5 + 4 737 c.426C>T c.(424-426)tcC>tcT p.S142S LGR5_ENST00000536515.1_Silent_p.S142S|LGR5_ENST00000540815.2_Silent_p.S142S O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 142 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCCTTCAATCCCTGTAAGTAT 0.353000 7 75 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675517 176675517 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:176675517G>A ENST00000367662.3 + 10 4552 c.3388G>A c.(3388-3390)Gat>Aat p.D1130N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1130 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 AGAGTGTGATGATGGAGACCT 0.398000 7 40 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150934934 150934934 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:150934934C>T ENST00000035307.2 + 4 2999 c.1486C>T c.(1486-1488)Ctg>Ttg p.L496L CHPF2_ENST00000495645.1_Silent_p.L488L NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 496 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 GCTGCCACTCCTGGTGGCTGA 0.622000 19 44 0 0 1 0 0 PGAP2 27315 broad.mit.edu 37 11 3832621 3832621 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:3832621C>T ENST00000278243.4 + 2 333 c.132C>T c.(130-132)ttC>ttT p.F44F PGAP2_ENST00000300730.6_Silent_p.F101F|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396986.2_Silent_p.F101F|PGAP2_ENST00000493547.2_Silent_p.F44F|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000396991.2_Silent_p.F44F|PGAP2_ENST00000463452.2_Silent_p.F44F NM_014489.3 NP_055304.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 44 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 CCCTGCTCTTCCACTTCAAGG 0.552000 4 38 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756286 94756286 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:94756286C>T ENST00000554723.1 - 2 1183 c.765G>A c.(763-765)ggG>ggA p.G255G SERPINA10_ENST00000554173.1_Silent_p.G215G|SERPINA10_ENST00000261994.4_Silent_p.G215G|SERPINA10_ENST00000393096.1_Silent_p.G215G Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 215 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.G215G(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGGGAATTTTCCCCCGAGTCT 0.388000 7 34 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42487664 42487664 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:42487664G>A ENST00000381668.5 - 25 2404 c.2173C>T c.(2173-2175)Cgt>Tgt p.R725C ATP8A1_ENST00000264449.10_Missense_Mutation_p.R710C NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 725 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GTACAGTGACGACTGAGAGTT 0.403000 6 58 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26101376 26101376 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:26101376C>T ENST00000313735.6 - 12 1616 c.1383G>A c.(1381-1383)tgG>tgA p.W461* NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 461 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CCAGCCAAATCCAGTCTGCCG 0.552000 4 46 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10035153 10035153 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:10035153G>A ENST00000378380.3 + 9 2407 c.2078G>A c.(2077-2079)gGa>gAa p.G693E ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G693E NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 ACATCAGAGGGAAAGAAAGTA 0.333000 8 38 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18029085 18029085 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:18029085C>T ENST00000262608.8 + 16 4045 c.4045C>T c.(4045-4047)Ctc>Ttc p.L1349F CECR2_ENST00000400573.4_Missense_Mutation_p.L1348F|CECR2_ENST00000400585.2_Missense_Mutation_p.L1206F NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1390 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TGTGGCTGCCCTCCCACCTCA 0.642000 4 26 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182585207 182585207 + Missense_Mutation SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:182585207G>C ENST00000323116.5 + 15 1923 c.1663G>C c.(1663-1665)Gtt>Ctt p.V555L NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 555 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AACTATGGAGGTTAAAACTCT 0.294000 12 36 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21212778 21212778 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:21212778G>A ENST00000574002.1 - 15 2088 c.1606C>T c.(1606-1608)Ccc>Tcc p.P536S ZP2_ENST00000219593.4_Missense_Mutation_p.P536S|ZP2_ENST00000574091.1_Missense_Mutation_p.P527S|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 536 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TTGATGTTGGGGTCATCCCTG 0.507000 8 97 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758651 121758651 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:121758651C>T ENST00000261367.7 + 6 1788 c.360C>T c.(358-360)ttC>ttT p.F120F SNCAIP_ENST00000379536.2_Silent_p.F73F|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Silent_p.F120F|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Silent_p.F120F|SNCAIP_ENST00000261368.8_Silent_p.F73F Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 73 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ACAGTAAGTTCCGCCCAGTGA 0.443000 5 60 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17507431 17507431 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:17507431C>T ENST00000229922.2 + 5 864 c.332C>T c.(331-333)tCg>tTg p.S111L CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.S85L|CAP2_ENST00000465994.1_Missense_Mutation_p.S111L NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 111 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AAACCCATATCGGAAAAGATT 0.478000 7 63 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154379702 154379702 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:154379702G>A ENST00000406326.1 + 6 1373 c.970G>A c.(970-972)Gag>Aag p.E324K DPP6_ENST00000377770.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATTGTCATACGAGTGTGGCAG 0.602000 11 112 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551338 248551338 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248551338G>A ENST00000355728.2 + 1 429 c.429G>A c.(427-429)atG>atA p.M143I NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 143 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) TCTGCTGGATGATCCTGGCCA 0.562000 4 52 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43111199 43111199 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:43111199C>T ENST00000230419.4 + 14 2313 c.2092C>T c.(2092-2094)Ccc>Tcc p.P698S PTK7_ENST00000345201.2_Missense_Mutation_p.P658S|PTK7_ENST00000481273.1_Missense_Mutation_p.P706S|PTK7_ENST00000352931.2_Missense_Mutation_p.P642S|PTK7_ENST00000349241.2_Missense_Mutation_p.P568S NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 698 actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CAGCCCTCCCCCCTACAAGAT 0.602000 OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 73 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39517881 39517881 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:39517881G>A ENST00000537403.1 - 11 2308 c.1106C>T c.(1105-1107)tCa>tTa p.S369L SEC23A_ENST00000307712.6_Missense_Mutation_p.S571L|SEC23A_ENST00000545328.2_Missense_Mutation_p.S542L|SEC23A_ENST00000536508.1_Missense_Mutation_p.S445L Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 571 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) GAAAGTTTCTGAAAATCTGAA 0.313000 5 32 0 0 1 0 0 PI4K2A 55361 broad.mit.edu 37 10 99416653 99416653 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:99416653C>T ENST00000370631.3 + 4 901 c.844C>T c.(844-846)Ctt>Ttt p.L282F PI4K2A_ENST00000555577.1_Missense_Mutation_p.L252F|PI4K2A_ENST00000370649.3_Missense_Mutation_p.L252F NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 282 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) AGCAGAACCTCTTCCTGAGAA 0.512000 22 119 0 0 1 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180916 142180916 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142180916G>A ENST00000390368.2 - 0 100 CCACAGGAGAGACAAGGCTGC 0.577000 8 57 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159568146 159568146 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:159568146C>T ENST00000307765.5 + 16 1800 c.1549C>T c.(1549-1551)Cct>Tct p.P517S RXFP1_ENST00000343542.5_Missense_Mutation_p.P469S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P484S|RXFP1_ENST00000460056.2_Missense_Mutation_p.P436S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P412S NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 517 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CATTGTCTATCCTTTTAGATG 0.358000 5 46 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116277727 116277727 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:116277727C>T ENST00000606080.1 - 5 1292 c.846G>A c.(844-846)aaG>aaA p.K282K FRK_ENST00000538210.1_Silent_p.K140K NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 282 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GTCTTAGGTTCTTCATTATCT 0.388000 5 81 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189849619 189849619 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:189849619A>T ENST00000304636.3 + 2 383 c.213A>T c.(211-213)gaA>gaT p.E71D COL3A1_ENST00000317840.5_Missense_Mutation_p.E71D NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 71 VWFC. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) ACGATCAAGAATTAGACTGCC 0.443000 4 46 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509700 125509700 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:125509700C>T ENST00000341446.8 + 3 571 c.480C>T c.(478-480)atC>atT p.I160I NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 160 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TCTTCTGGATCGTGCGGGTCG 0.627000 12 73 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763880 77763880 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:77763880G>A ENST00000521891.2 + 10 5171 c.4723G>A c.(4723-4725)Gaa>Aaa p.E1575K ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1530K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1549K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1530K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1530 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTTTTGCAGGAAGCCTCCAG 0.408000 HNSCC(33;0.089) 5 15 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4714907 4714907 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:4714907C>T ENST00000302640.8 + 20 2597 c.2247C>T c.(2245-2247)ctC>ctT p.L749L ITPR1_ENST00000456211.2_Silent_p.L749L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.L764L|ITPR1_ENST00000423119.2_Silent_p.L764L|ITPR1_ENST00000354582.6_Silent_p.L764L|ITPR1_ENST00000443694.2_Silent_p.L749L NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 764 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) ATGTCGATCTCATTCTCCGCT 0.547000 5 33 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54559794 54559794 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:54559794C>T ENST00000566473.2 + 17 2178 c.2178C>T c.(2176-2178)gcC>gcT p.A726A ANKFN1_ENST00000318698.2_Silent_p.A726A Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 726 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TGCTCCCTGCCTCAGACGACG 0.527000 9 123 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42618590 42618590 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:42618590C>T ENST00000282030.5 + 5 4437 c.4141C>T c.(4141-4143)Ctt>Ttt p.L1381F NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1381 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTTATCTCTCCTTGCTGCATC 0.517000 Schinzel-Giedion syndrome 5 60 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51352508 51352508 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:51352508C>T ENST00000266037.9 + 32 3374 c.3351C>T c.(3349-3351)atC>atT p.I1117I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1117 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGATTCCCATCTTTCATGACA 0.463000 9 34 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39282978 39282978 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:39282978C>T ENST00000425054.2 - 5 890 c.891G>A c.(889-891)tgG>tgA p.W297* KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373229.5_Intron NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 0 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GCCAAAATTTCCAGGCCCCGG 0.577000 3 39 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242526 53242526 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:53242526C>T ENST00000304620.4 - 1 252 c.189G>A c.(187-189)ggG>ggA p.G63G NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 63 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAAACCGCACCCCCAGCCTAC 0.642000 5 31 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42196221 42196221 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42196221G>A ENST00000541110.1 - 18 4093 c.3525C>T c.(3523-3525)ccC>ccT p.P1175P TRERF1_ENST00000372917.4_Silent_p.P1084P|TRERF1_ENST00000372922.4_Silent_p.P1155P|TRERF1_ENST00000354325.2_Silent_p.P1072P|TRERF1_ENST00000340840.2_Silent_p.P1084P Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1155 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CATCCTTGATGGGTTTGATCA 0.597000 29 330 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722320 56722320 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:56722320G>A ENST00000425394.2 - 3 764 c.388C>T c.(388-390)Ctt>Ttt p.L130F PAN2_ENST00000257931.5_Missense_Mutation_p.L130F|PAN2_ENST00000440411.3_Missense_Mutation_p.L130F|PAN2_ENST00000548043.1_Missense_Mutation_p.L130F NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 130 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GTGAGAAAAAGGATACCATTC 0.478000 13 92 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79966339 79966339 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:79966339C>T ENST00000360280.3 + 53 7656 c.7396C>T c.(7396-7398)Cat>Tat p.H2466Y VPS13A_ENST00000357409.5_Missense_Mutation_p.H2466Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.H2466Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.H2427Y NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2466 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TAGAAAAAGCCATGGTGAAGT 0.473000 23 79 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19610530 19610530 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:19610530G>A ENST00000361640.4 - 6 1334 c.794C>T c.(793-795)tCg>tTg p.S265L NM_012067.2 NP_036199.2 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) 265 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGGGTGGCCGAGGTCATGCT 0.617000 21 72 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683259 43683259 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:43683259C>T ENST00000599812.1 - 3 576 c.481G>A c.(481-483)Gcc>Acc p.A161T PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000366175.3_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 161 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GCCTCCATGGCCTCCCTGGGG 0.517000 32 181 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581784 7581784 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:7581784C>T ENST00000379802.3 + 23 5702 c.5361C>T c.(5359-5361)ttC>ttT p.F1787F DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1787 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGAGAAATTCCAAAAGCAGG 0.408000 6 90 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124180963 124180963 + Splice_Site SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:124180963T>C ENST00000303372.5 + 12 1442 c.1312_splice c.e12-1 p.G438_splice TCTN2_ENST00000426174.2_Splice_Site_p.G437_splice NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 438 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TTTGTCTAGGTTACCAACTTG 0.423000 3 54 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92568084 92568084 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:92568084G>A ENST00000370382.3 + 3 669 c.402G>A c.(400-402)agG>agA p.R134R BTBD8_ENST00000540648.1_Silent_p.R134R|BTBD8_ENST00000342818.3_Silent_p.R134R Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 134 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) AAATTCTTAGGAAAAAGATAA 0.279000 8 45 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42231025 42231025 + Silent SNP G G C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:42231025G>C ENST00000541110.1 - 8 2485 c.1917C>G c.(1915-1917)ccC>ccG p.P639P TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 628 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CAGCCCCTTGGGGTGAGTGTG 0.667000 12 102 0 0 1 0 0 MT4 84560 broad.mit.edu 37 16 56599044 56599044 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:56599044G>A ENST00000219162.3 + 1 84 c.4G>A c.(4-6)Gac>Aac p.D2N NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 2 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CTGGACCATGGACCCCAGGGA 0.602000 6 67 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152638131 152638131 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:152638131G>A ENST00000263985.6 - 4 577 c.537C>T c.(535-537)atC>atT p.I179I PET112_ENST00000512306.1_Silent_p.I179I|PET112_ENST00000515812.1_Silent_p.I179I NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 179 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCGTCTTGGGGATCACCTGAC 0.527000 25 119 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 289848 289848 + Silent SNP A A G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:289848A>G ENST00000419098.1 - 2 110 c.100T>C c.(100-102)Ttg>Ctg p.L34L NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TAGTTCTCCAACATCACATCT 0.418000 9 44 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909109 123909109 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:123909109C>T ENST00000330487.5 - 1 608 c.600G>A c.(598-600)gtG>gtA p.V200V NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GCCCAATATTCACAAAGATGA 0.562000 33 139 0 0 1 0 0 GUCA2A 2980 broad.mit.edu 37 1 42628612 42628612 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:42628612C>T ENST00000357001.2 - 3 318 c.313G>A c.(313-315)Gaa>Aaa p.E105K NM_033553.2 NP_291031.2 Q02747 GUC2A_HUMAN guanylate cyclase activator 2A (guanylin) 105 signal transduction extracellular region guanylate cyclase activator activity|hormone activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1) 5 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCACAGATTTCACATGTGCCC 0.622000 26 72 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601504 61601504 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:61601504G>A ENST00000583023.1 + 2 92 c.81G>A c.(79-81)cgG>cgA p.R27R KCNH6_ENST00000581784.1_Silent_p.R27R|KCNH6_ENST00000580652.1_Silent_p.R27R|KCNH6_ENST00000456941.2_Silent_p.R27R|KCNH6_ENST00000314672.5_Silent_p.R27R NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 27 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CCCCAGGTCGGAAGTTCCTGA 0.562000 26 189 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20384441 20384441 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20384441T>G ENST00000302451.4 - 6 933 c.685A>C c.(685-687)Aaa>Caa p.K229Q NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 229 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTCACAATTTTTCCCTTGTAC 0.343000 11 73 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155278420 155278420 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:155278420C>T ENST00000357232.3 - 6 750 c.751G>A c.(751-753)Gaa>Aaa p.E251K DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 251 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) ttcattacttccttgtctgct 0.438000 7 70 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91818668 91818668 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:91818668C>T ENST00000370425.3 - 15 1869 c.1771G>A c.(1771-1773)Gag>Aag p.E591K HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.E270K NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 591 Helicase C-terminal. 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) TCTGACAGCTCCATACCAGCA 0.318000 12 58 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767403 57767403 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:57767403C>T ENST00000371030.2 + 1 1329 c.1329C>T c.(1327-1329)ccC>ccT p.P443P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 443 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) TCGACCTGCCCACGCCCTACA 0.682000 5 31 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30705811 30705811 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:30705811G>A ENST00000256246.2 - 1 797 c.723C>T c.(721-723)ttC>ttT p.F241F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 241 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CCAGGTCAGCGAAGTTTTTCA 0.333000 11 47 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371038 33371038 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:33371038C>T ENST00000270112.2 + 11 2046 c.1686C>T c.(1684-1686)ttC>ttT p.F562F NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 562 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 TGCGCTCCTTCGAGTCTGTGG 0.592000 9 51 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404448 197404448 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:197404448G>A ENST00000367397.1 + 5 2456 c.1598G>A c.(1597-1599)gGa>gAa p.G533E CRB1_ENST00000535699.1_Missense_Mutation_p.G1128E|CRB1_ENST00000367400.3_Missense_Mutation_p.G1152E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G633E|CRB1_ENST00000367399.2_Missense_Mutation_p.G1040E P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1152 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGCATGGAGGAAACTGTGAA 0.443000 9 52 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 102992408 102992408 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:102992408G>A ENST00000409599.1 + 6 866 c.510G>A c.(508-510)acG>acA p.T170T IL18R1_ENST00000233957.1_Silent_p.T170T Q13478 IL18R_HUMAN interleukin 18 receptor 1 170 Ig-like C2-type 2. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 AAAACCCAACGATAAAGAAGA 0.318000 3 6 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688869 55688869 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55688869C>T ENST00000358433.2 - 1 147 c.148G>A c.(148-150)Gat>Aat p.D50N NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGCCGGGGATCCAGCAGGGTG 0.408000 6 59 0 0 1 0 0 ZFR2 23217 broad.mit.edu 37 19 3823361 3823361 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:3823361C>T ENST00000262961.4 - 8 1264 c.1254G>A c.(1252-1254)tgG>tgA p.W418* NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 418 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CTGGTTTCCCCCACTGGGGTC 0.612000 7 61 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863813 192863813 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:192863813C>T ENST00000392314.1 - 6 1049 c.658G>A c.(658-660)Gaa>Aaa p.E220K TMEFF2_ENST00000272771.5_Missense_Mutation_p.E220K|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 220 Kazal-like 2. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) GACATGACTTCAATTTTCTCC 0.358000 14 67 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61833636 61833636 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:61833636C>T ENST00000280772.1 - 37 7194 c.7003G>A c.(7003-7005)Gaa>Aaa p.E2335K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2335 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTACCTTTTTCGATGTGGACT 0.428000 8 75 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81695819 81695819 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:81695819C>T ENST00000356860.3 - 8 1018 c.680G>A c.(679-681)aGt>aAt p.S227N CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S227N|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.S227N NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 227 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGGAGTTCTACTATTATCAAC 0.274000 4 26 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196852734 196852734 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:196852734C>T ENST00000312428.6 - 13 1673 c.1573G>A c.(1573-1575)Gaa>Aaa p.E525K NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 525 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGCAAATTTCATCTATTATT 0.328000 5 9 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834079 82834079 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:82834079C>T ENST00000265077.3 + 8 5822 c.5257C>T c.(5257-5259)Ccc>Tcc p.P1753S VCAN_ENST00000343200.5_Missense_Mutation_p.P766S|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1753 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATTAATTTTACCCTTTGAATT 0.388000 12 67 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233135013 233135013 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:233135013C>A ENST00000258229.8 - 31 5675 c.5441G>T c.(5440-5442)cGg>cTg p.R1814L PCNXL2_ENST00000344698.2_Missense_Mutation_p.R466L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1814 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AATCAAGTTCCGCAGGACCTG 0.562000 4 9 0.014758 0.0147921 1 1 0 GLB1L 79411 broad.mit.edu 37 2 220107568 220107568 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:220107568G>A ENST00000295759.7 - 4 625 c.312C>T c.(310-312)gcC>gcT p.A104A GLB1L_ENST00000392089.2_Silent_p.A104A|GLB1L_ENST00000409640.1_Silent_p.A104A|GLB1L_ENST00000356283.3_Silent_p.A104A Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 104 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATTCAGAAAGGCAATGAGGT 0.507000 7 87 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139474 142139474 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142139474G>A ENST00000390374.3 - 0 195 TACCAATAAAGGGATACATGA 0.512000 4 76 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011429 78011429 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:78011429G>A ENST00000435339.2 + 2 1468 c.1063G>A c.(1063-1065)Gat>Aat p.D355N LPAR4_ENST00000373301.2_Missense_Mutation_p.D355N NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 355 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 GGAAGTGAGTGATCAAACAAC 0.398000 15 57 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665265 6665265 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:6665265G>A ENST00000326176.9 - 5 668 c.287C>T c.(286-288)gCc>gTc p.A96V TNFSF14_ENST00000245912.3_Missense_Mutation_p.A96V|TNFSF14_ENST00000599359.1_Missense_Mutation_p.A132V NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 132 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GACCACAAGGGCCCCATCGTG 0.662000 7 31 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27630176 27630176 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:27630176C>T ENST00000319394.3 + 14 2068 c.1533C>T c.(1531-1533)tcC>tcT p.S511S WDTC1_ENST00000361771.3_Silent_p.S510S NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 511 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GCAAGGACTCCATCTCAGAGG 0.592000 7 130 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179472290 179472290 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179472290C>T ENST00000589042.1 - 277 53349 c.53125G>A c.(53125-53127)Gaa>Aaa p.E17709K TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8644K|TTN_ENST00000359218.5_Missense_Mutation_p.E8769K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16068K|TTN_ENST00000342175.6_Missense_Mutation_p.E8836K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15141K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16068 Fibronectin type-III 28. 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) TCCCCTTCTTCTTTGGTCCAT 0.438000 24 345 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55923972 55923972 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:55923972C>T ENST00000244728.5 - 29 3074 c.2677G>A c.(2677-2679)Ggt>Agt p.G893S COL21A1_ENST00000370819.1_Missense_Mutation_p.G890S|COL21A1_ENST00000535941.1_Missense_Mutation_p.G893S|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G259S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 893 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCTGGGGGACCAGGAGGACCT 0.438000 7 27 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112958883 112958883 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:112958883A>T ENST00000271277.6 + 3 321 c.96A>T c.(94-96)ttA>ttT p.L32F RP4-671G15.2_ENST00000502356.2_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 32 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TAGAAGCCTTAAAGGTATGTT 0.328000 14 63 0 0 1 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471587 61471587 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61471587G>A ENST00000398019.2 + 8 1186 c.861G>A c.(859-861)atG>atA p.M287I SERPINB7_ENST00000540675.1_Missense_Mutation_p.M270I|SERPINB7_ENST00000336429.2_Missense_Mutation_p.M287I|SERPINB7_ENST00000546027.1_Missense_Mutation_p.M287I NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 287 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) ATTATGAAATGAAACAATATT 0.398000 11 41 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17353004 17353004 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:17353004C>T ENST00000261381.6 - 3 838 c.754G>A c.(754-756)Gac>Aac p.D252N NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 252 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGGGCTGGTCATACTTGGTC 0.617000 13 97 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131285 130131285 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:130131285G>A ENST00000525842.1 - 2 851 c.484C>T c.(484-486)Ccc>Tcc p.P162S ZBTB44_ENST00000357899.4_Missense_Mutation_p.P162S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P162S|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P162S NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) GAGGACACGGGAGAAATGCTC 0.448000 6 40 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156923993 156923993 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:156923993C>T ENST00000257527.4 - 14 1581 c.1503G>A c.(1501-1503)atG>atA p.M501I ADAM19_ENST00000430702.2_Missense_Mutation_p.M234I|ADAM19_ENST00000394020.1_Missense_Mutation_p.M503I|ADAM19_ENST00000517905.1_Missense_Mutation_p.M501I NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 501 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGTACCATCCATCTGGTAGA 0.642000 4 15 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266721 139266721 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:139266721G>A ENST00000450536.2 - 3 965 c.391C>T c.(391-393)Ccc>Tcc p.P131S REPS1_ENST00000258062.5_Missense_Mutation_p.P131S|REPS1_ENST00000409812.2_Missense_Mutation_p.P131S|REPS1_ENST00000367663.4_Missense_Mutation_p.P131S|REPS1_ENST00000415951.2_Missense_Mutation_p.P131S Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 131 coated pit|plasma membrane calcium ion binding|SH3 domain binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) GGTGGTGGGGGAATTACACCA 0.468000 13 135 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68029431 68029431 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68029431C>T ENST00000304271.6 - 4 1434 c.1032G>A c.(1030-1032)ccG>ccA p.P344P C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 344 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 CTACCTGCTCCGGTGCCTGGG 0.637000 5 56 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33988599 33988599 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:33988599C>T ENST00000389232.4 + 39 6111 c.6041C>T c.(6040-6042)aCc>aTc p.T2014I RYR3_ENST00000415757.3_Missense_Mutation_p.T2014I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2014 4 X approximate repeats. 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) GTAAGCGACACCATCAACCTG 0.582000 7 69 0 0 1 0 0 TGM2 7052 broad.mit.edu 37 20 36767898 36767898 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:36767898G>A ENST00000361475.2 - 9 1431 c.1258C>T c.(1258-1260)Ctg>Ttg p.L420L TGM2_ENST00000536701.1_Silent_p.L339L|TGM2_ENST00000536724.1_Silent_p.L360L NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 420 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CCAACGATCAGGGAACGGTTG 0.557000 14 52 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863686 55863686 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55863686G>A ENST00000327335.4 - 1 236 c.237C>T c.(235-237)ttC>ttT p.F79F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TGGTGATTAGGAATCTGGGAA 0.383000 7 39 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10524804 10524804 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:10524804G>A ENST00000396560.2 + 3 554 c.327G>A c.(325-327)ttG>ttA p.L109L ATF7IP2_ENST00000396559.1_Silent_p.L109L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L109L|ATF7IP2_ENST00000356427.2_Silent_p.L109L NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AAACAAAATTGGAACAAGTTG 0.348000 7 60 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285459 48285459 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:48285459C>T ENST00000320048.1 + 1 47 c.47C>T c.(46-48)tCc>tTc p.S16F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTGGGATTTTCCCAGAATTGG 0.453000 11 60 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107930850 107930850 + Missense_Mutation SNP G G A rs104886281 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:107930850G>A ENST00000328300.6 + 49 4698 c.4454G>A c.(4453-4455)gGa>gAa p.G1485E COL4A5_ENST00000361603.2_Missense_Mutation_p.G1479E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1479 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGCCCACAGGGAACACTTCAG 0.478000 Alport syndrome with Diffuse Leiomyomatosis 26 93 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510333 5510333 + Missense_Mutation SNP T T A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5510333T>A ENST00000322641.5 + 1 419 c.397T>A c.(397-399)Tta>Ata p.L133I HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTAACCCATTAAGGTACAC 0.458000 22 105 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61597403 61597403 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61597403G>A ENST00000238508.3 + 6 674 c.615G>A c.(613-615)aaG>aaA p.K205K NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCACAGAAAAGCCTTTTAGAA 0.358000 15 81 0 0 1 0 0 GJA5 2702 broad.mit.edu 37 1 147230322 147230322 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:147230322C>T ENST00000271348.2 - 2 1186 c.1025G>A c.(1024-1026)cGa>cAa p.R342Q RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.R342Q NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 342 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) ACTAAGACGTCGCTTGTCACT 0.547000 6 65 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10508849 10508849 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:10508849G>A ENST00000444303.2 + 5 872 c.400G>A c.(400-402)Gaa>Aaa p.E134K AMPD3_ENST00000396554.3_Missense_Mutation_p.E302K NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 293 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GATGTTAAACGAAATGTCCGA 0.498000 25 178 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54853330 54853330 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:54853330C>T ENST00000333896.5 + 11 1949 c.1564C>T c.(1564-1566)Cag>Tag p.Q522* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q535* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 535 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAAGATATTCCAGGAAATGCT 0.517000 3 38 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151185 247151185 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:247151185G>A ENST00000339986.7 - 4 779 c.632C>T c.(631-633)cCg>cTg p.P211L ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 211 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACATTGGTACGGGTTCTCTCC 0.373000 6 47 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546582 9546582 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:9546582C>T ENST00000378429.3 - 6 1986 c.1440G>A c.(1438-1440)atG>atA p.M480I PAK7_ENST00000353224.5_Missense_Mutation_p.M480I|PAK7_ENST00000378423.1_Missense_Mutation_p.M480I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 480 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) TCCGGAGGTCCATTTTCTTCA 0.443000 4 124 0 0 1 0 0 HOXB2 3212 broad.mit.edu 37 17 46621989 46621989 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:46621989G>A ENST00000330070.4 - 1 1452 c.285C>T c.(283-285)ttC>ttT p.F95F HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 95 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TCATCCAAGGGAACTcggggg 0.692000 5 51 0 0 1 0 0 TPD52 7163 broad.mit.edu 37 8 80965600 80965600 + Silent SNP G G A rs140252226 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:80965600G>A ENST00000379096.5 - 3 315 c.201C>T c.(199-201)atC>atT p.I67I TPD52_ENST00000517427.1_Silent_p.I107I|TPD52_ENST00000537855.1_Silent_p.I107I|TPD52_ENST00000379097.3_Silent_p.I107I|TPD52_ENST00000520527.1_Silent_p.I107I|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000448733.2_Silent_p.I107I|TPD52_ENST00000518937.1_Silent_p.I67I NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 107 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) GTTTCCGCTTGATCTCTGCTA 0.428000 12 92 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51649300 51649300 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:51649300G>A ENST00000317643.6 + 4 1018 c.949G>A c.(949-951)Gaa>Aaa p.E317K SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E224K NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 317 Ig-like C2-type 2. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GGATGAAGGGGAATTCACCTG 0.597000 10 84 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56716350 56716350 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:56716350G>A ENST00000370754.5 - 4 469 c.470C>T c.(469-471)tCc>tTc p.S157F RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 2. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCCTCATCGGAAAAATCCGC 0.468000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 22 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399289 10399289 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10399289C>T ENST00000226207.5 - 35 5241 c.5147G>A c.(5146-5148)cGt>cAt p.R1716H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1716 R -> C (in dbSNP:rs1077841). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GAGCTGAACACGCTCACTGGC 0.488000 12 46 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103288627 103288627 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:103288627A>T ENST00000553106.1 - 3 710 c.238T>A c.(238-240)Ttc>Atc p.F80I PAH_ENST00000307000.2_Missense_Mutation_p.F75I|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 80 ACT. catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AAATGGGTGAAAAATTCATAC 0.433000 4 64 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070515 9070515 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9070515G>A ENST00000397910.4 - 3 17134 c.16931C>T c.(16930-16932)cCt>cTt p.P5644L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5646 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 GGAGGAAACAGGAGAAGGGGA 0.517000 3 31 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17131375 17131375 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:17131375G>A ENST00000418129.2 + 6 3442 c.2977G>A c.(2977-2979)Gaa>Aaa p.E993K PLCL2_ENST00000432376.1_Missense_Mutation_p.E993K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1119 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 AGTCATACCCGAAAAAGCAAA 0.418000 10 30 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93965670 93965670 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:93965670C>T ENST00000369303.4 - 13 2442 c.2258G>A c.(2257-2259)gGa>gAa p.G753E NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 753 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTGAACATATCCCATATCAGC 0.423000 16 66 0 0 1 0 0 IL10 3586 broad.mit.edu 37 1 206941988 206941988 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:206941988C>T ENST00000423557.1 - 5 588 c.530G>A c.(529-531)cGa>cAa p.R177Q NM_000572.2 NP_000563.1 P22301 IL10_HUMAN interleukin 10 177 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GTCTCAGTTTCGTATCTTCAT 0.458000 3 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179516835 179516835 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179516835G>A ENST00000589042.1 - 204 39507 c.39283C>T c.(39283-39285)Cct>Tct p.P13095S TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11588S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10661S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11448 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) TCAGGGGGAGGACTTTCCGGT 0.343000 8 92 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94928715 94928715 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:94928715C>T ENST00000357742.4 + 13 1749 c.1749C>T c.(1747-1749)ccC>ccT p.P583P MCTP2_ENST00000557742.1_Silent_p.P171P|MCTP2_ENST00000331706.4_Silent_p.P171P|MCTP2_ENST00000451018.3_Silent_p.P583P NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 583 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GAGATAAACCCCCAGATTTTC 0.338000 8 189 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843320 4843320 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:4843320C>T ENST00000322110.5 + 1 770 c.705C>T c.(703-705)atC>atT p.I235I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATATCCTGATCATTCGATCTG 0.502000 14 71 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47801557 47801557 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:47801557G>A ENST00000591416.1 - 9 1282 c.851C>T c.(850-852)cCc>cTc p.P284L MBD1_ENST00000347968.3_Missense_Mutation_p.P284L|MBD1_ENST00000339998.6_Missense_Mutation_p.P284L|MBD1_ENST00000269471.5_Missense_Mutation_p.P284L|MBD1_ENST00000588937.1_Missense_Mutation_p.P284L|MBD1_ENST00000585672.1_Missense_Mutation_p.P235L|MBD1_ENST00000398495.2_Missense_Mutation_p.P309L|MBD1_ENST00000585595.1_Missense_Mutation_p.P309L|MBD1_ENST00000269468.5_Missense_Mutation_p.P284L|MBD1_ENST00000457839.2_Missense_Mutation_p.P309L|MBD1_ENST00000436910.1_Missense_Mutation_p.P284L|MBD1_ENST00000424334.2_Missense_Mutation_p.P335L|MBD1_ENST00000398488.1_Missense_Mutation_p.P284L|MBD1_ENST00000398493.1_Missense_Mutation_p.P284L|MBD1_ENST00000587605.1_Missense_Mutation_p.P284L|MBD1_ENST00000382948.5_Missense_Mutation_p.P284L|MBD1_ENST00000353909.3_Missense_Mutation_p.P235L|MBD1_ENST00000349085.2_Missense_Mutation_p.P284L|MBD1_ENST00000591535.1_Missense_Mutation_p.P284L|MBD1_ENST00000590208.1_Missense_Mutation_p.P284L Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 284 Pro-rich. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CTGGGCTCCGGGGCGCCGCCT 0.647000 10 86 0 0 1 0 0 CLN6 54982 broad.mit.edu 37 15 68502091 68502091 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:68502091G>A ENST00000564752.1 - 6 699 c.575C>T c.(574-576)tCc>tTc p.S192F CLN6_ENST00000538696.1_Silent_p.I215I|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000566347.1_Silent_p.I120I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000249806.5_Silent_p.I183I|CLN6_ENST00000565471.1_Silent_p.I30I Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGAAGAAGGGGATGTACCTGT 0.577000 18 67 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21225764 21225764 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21225764C>T ENST00000233242.1 - 29 12657 c.12530G>A c.(12529-12531)cGa>cAa p.R4177Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4177 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGAGTAACTCGTACCAAGCC 0.463000 14 52 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20361531 20361531 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:20361531C>T ENST00000423676.3 - 3 361 c.298G>A c.(298-300)Gac>Aac p.D100N LGALS9B_ENST00000324290.5_Missense_Mutation_p.D100N Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B 100 Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 AAGCAGAGGTCAAAGGGCATC 0.572000 8 24 0 0 1 0 0 DBX2 440097 broad.mit.edu 37 12 45410273 45410273 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:45410273G>A ENST00000332700.6 - 4 987 c.816C>T c.(814-816)ttC>ttT p.F272F NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 272 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) ATGGAGAAGGGAAACCCAGAG 0.483000 9 83 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29598955 29598955 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:29598955C>T ENST00000431530.3 + 1 208 c.150C>T c.(148-150)atC>atT p.I50I NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 40 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCAATCAAATCATGTTGGAGG 0.413000 4 43 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14146769 14146769 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:14146769C>T ENST00000380959.3 - 6 1317 c.844G>A c.(844-846)Gaa>Aaa p.E282K NFIB_ENST00000380934.4_Missense_Mutation_p.E308K|NFIB_ENST00000543693.1_Missense_Mutation_p.E30K|NFIB_ENST00000397579.2_Missense_Mutation_p.E282K|NFIB_ENST00000397581.2_Missense_Mutation_p.E282K|NFIB_ENST00000380924.1_Missense_Mutation_p.E30K|NFIB_ENST00000397575.3_Missense_Mutation_p.E282K|NFIB_ENST00000380953.1_Missense_Mutation_p.E282K NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 282 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) GGACTTGGTTCCATATTTTCA 0.388000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 11 59 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559889 44559889 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:44559889C>T ENST00000332567.4 - 1 2099 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 583 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCCGTAATTCGTCTGTCTCT 0.517000 9 51 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427672 25427672 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:25427672C>T ENST00000424208.1 + 0 272 NR_003305.1 AGGAGGGCCCCTGTATTTTTG 0.562000 12 103 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170103911 170103911 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:170103911G>A ENST00000263816.3 - 20 3170 c.2885C>T c.(2884-2886)tCg>tTg p.S962L LRP2_ENST00000443831.1_Missense_Mutation_p.S825L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 962 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.S962*(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GACATCATACGATTTCAAATG 0.398000 4 53 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42953379 42953379 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:42953379G>A ENST00000426333.2 - 10 1089 c.792C>T c.(790-792)atC>atT p.I264I EFTUD2_ENST00000592576.1_Silent_p.I254I|EFTUD2_ENST00000591382.1_Silent_p.I264I|EFTUD2_ENST00000402521.3_Silent_p.I229I NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 264 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TCAGCTCCAGGATCAGCCGGT 0.507000 16 186 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756661 56756661 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56756661G>A ENST00000326855.2 + 1 315 c.273G>A c.(271-273)ttG>ttA p.L91L NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAAAGAATTTGATGTTATTTC 0.383000 9 65 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219618942 219618942 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:219618942C>T ENST00000392102.1 + 20 3770 c.3430C>T c.(3430-3432)Cct>Tct p.P1144S TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000442769.1_Missense_Mutation_p.P1080S|TTLL4_ENST00000258398.4_Missense_Mutation_p.P1144S NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1144 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TGGCCTTTCCCCTTATCCCCA 0.522000 14 136 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49341346 49341346 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:49341346G>A ENST00000263265.6 - 19 2560 c.2005C>T c.(2005-2007)Cac>Tac p.H669Y PLEKHA4_ENST00000355496.5_Missense_Mutation_p.S570L NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 669 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CGCTCCCGGTGACCTTCGGAA 0.577000 8 76 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26414447 26414447 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:26414447G>A ENST00000265944.5 + 19 2190 c.2024G>A c.(2023-2025)aGg>aAg p.R675K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 675 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ACCGATGTCAGGGATGCCATG 0.418000 17 101 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41457622 41457622 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:41457622G>A ENST00000400454.1 - 23 4516 c.4039C>T c.(4039-4041)Cgc>Tgc p.R1347C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1347 Ig-like C2-type 10. 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 p.R1347C(1) 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) TTCACCGTGCGAATAATGAAG 0.438000 16 47 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163369185 163369185 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:163369185C>T ENST00000332142.5 - 5 992 c.e5-1 KCNH7_ENST00000328032.4_Intron|KCNH7_ENST00000477019.1_Intron NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 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) CGACCATTGTCTGTTTTGAGC 0.333000 5 59 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128755 68128755 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:68128755G>A ENST00000585558.1 + 4 1020 c.632G>A c.(631-633)cGa>cAa p.R211Q KCNJ16_ENST00000283936.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R176Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R215Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R176Q Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 176 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) GCAACTGCTCGAAAGAGAGCC 0.468000 6 80 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139299124 139299124 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:139299124C>T ENST00000406875.3 - 8 1992 c.1898G>A c.(1897-1899)cGg>cAg p.R633Q HIPK2_ENST00000342645.6_Missense_Mutation_p.R633Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.R606Q NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 633 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGGCATGCTCCGCTGGGCCAC 0.572000 9 27 0 0 1 0 0 HSF2 3298 broad.mit.edu 37 6 122733860 122733860 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:122733860C>T ENST00000452194.1 + 3 468 c.281C>T c.(280-282)cCt>cTt p.P94L HSF2_ENST00000368455.4_Missense_Mutation_p.P94L NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 94 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TTTCAGCATCCTTACTTCAAA 0.378000 15 74 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115391348 115391348 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:115391348C>T ENST00000369358.4 - 18 2030 c.1786G>A c.(1786-1788)Gaa>Aaa p.E596K NRAP_ENST00000360478.3_Missense_Mutation_p.E553K|NRAP_ENST00000359988.3_Missense_Mutation_p.E588K|NRAP_ENST00000369360.3_Missense_Mutation_p.E561K Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 588 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTTGTCTTTTCATATTCTTCT 0.428000 9 65 0 0 1 0 0 RRS1 23212 broad.mit.edu 37 8 67342133 67342133 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:67342133C>T ENST00000320270.2 + 1 871 c.767C>T c.(766-768)cCc>cTc p.P256L NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 256 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AAGTTTCAACCCCTTTTCGGG 0.577000 6 30 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54173442 54173442 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:54173442G>A ENST00000259782.4 + 1 190 c.94G>A c.(94-96)Gag>Aag p.E32K TINAG_ENST00000370869.3_Missense_Mutation_p.E28K|TINAG_ENST00000370864.3_Missense_Mutation_p.E14K|TINAG_ENST00000486436.1_3'UTR NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 32 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AGTGGACCTAGAGGCTTATTT 0.393000 15 89 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451468 38451468 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38451468G>A ENST00000322350.5 + 19 2941 c.2595G>A c.(2593-2595)aaG>aaA p.K865K EGFLAM_ENST00000514476.1_Silent_p.K8K|EGFLAM_ENST00000397202.2_Silent_p.K231K|EGFLAM_ENST00000506135.1_Silent_p.K8K|EGFLAM_ENST00000336740.6_Silent_p.K631K|EGFLAM_ENST00000397210.3_Silent_p.K8K|EGFLAM_ENST00000354891.3_Silent_p.K873K NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 873 Laminin G-like 3. 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) CAACTGCCAAGGATGGCCTTT 0.498000 8 145 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156273856 156273856 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:156273856G>A ENST00000311277.4 - 13 1976 c.1713C>T c.(1711-1713)ttC>ttT p.F571F AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Silent_p.F547F NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 571 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) cctttTGCTTGAAAAAAGCTT 0.279000 4 19 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116060253 116060253 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:116060253G>A ENST00000369271.3 - 14 2039 c.1739C>T c.(1738-1740)cCc>cTc p.P580L AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P633L|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P580L NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 580 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) ATCTGGGGTGGGACCTGGGCC 0.642000 18 78 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20966232 20966232 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20966232G>A ENST00000261383.3 - 55 10973 c.10974C>T c.(10972-10974)ttC>ttT p.F3658F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3658 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CACAGCTTTGGAAGAACACAG 0.507000 20 117 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90079082 90079082 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:90079082C>T ENST00000405460.2 + 66 13469 c.13373C>T c.(13372-13374)aCc>aTc p.T4458I GPR98_ENST00000425867.2_Missense_Mutation_p.T119I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4458 Calx-beta 30. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTACAGTCACCTTTCAGCAT 0.393000 7 61 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541225 55541225 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55541225C>T ENST00000220676.1 + 4 4931 c.4783C>T c.(4783-4785)Cgg>Tgg p.R1595W NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1595 R -> Q (in dbSNP:rs35084330). axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTCAGACTATCGGCCTGACAG 0.398000 5 57 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98348911 98348911 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:98348911G>A ENST00000370192.3 - 2 159 c.59C>T c.(58-60)cCt>cTt p.P20L DPYD_ENST00000423006.2_Intron|DPYD_ENST00000306031.5_Missense_Mutation_p.P20L NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 20 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTGTGTTCGAGGATTTAAAGC 0.318000 5 42 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156837963 156837963 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:156837963G>A ENST00000368196.3 + 5 616 c.496G>A c.(496-498)Gga>Aga p.G166R NTRK1_ENST00000358660.3_Missense_Mutation_p.G166R|NTRK1_ENST00000524377.1_Missense_Mutation_p.G166R|NTRK1_ENST00000392302.2_Missense_Mutation_p.G136R NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 166 LRRCT. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGAGGAGGAGGGACTGGGCGG 0.652000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 47 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27720940 27720940 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:27720940C>T ENST00000395986.2 - 1 274 c.13G>A c.(13-15)Gaa>Aaa p.E5K BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000438929.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000395980.2_Intron|BDNF_ENST00000420794.1_Intron|BDNF_ENST00000533131.1_Intron|RP11-587D21.4_ENST00000530663.1_RNA|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF_ENST00000530861.1_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000533246.1_Intron NM_170734.3 NP_733930.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 0 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CATTCCTCTTCCCGGCTCTGC 0.547000 OREG0020848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 87 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25215943 25215943 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:25215943C>T ENST00000404969.1 + 1 55 c.55C>T c.(55-57)Cac>Tac p.H19Y P10826 RARB_HUMAN retinoic acid receptor, beta 19 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) ACACATGACTCACTATCCAGC 0.582000 5 95 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120385357 120385357 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:120385357G>A ENST00000602047.1 + 17 1899 c.787G>A c.(787-789)Gag>Aag p.E263K PCDP1_ENST00000413369.3_Missense_Mutation_p.E549K Q4G0U5 PCDP1_HUMAN 549 cilium calmodulin binding Colorectal(110;0.196) GGACTCCAACGAGTTGGTAGG 0.587000 12 76 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169081456 169081456 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:169081456C>T ENST00000256935.8 + 2 173 c.93C>T c.(91-93)atC>atT p.I31I NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 31 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCTGCAGATCGGCGATGTGG 0.552000 8 55 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922670 37922670 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:37922670G>A ENST00000346872.3 - 8 964 c.903C>T c.(901-903)acC>acT p.T301T IKZF3_ENST00000583368.1_Silent_p.T54T|IKZF3_ENST00000350532.3_Silent_p.T262T|IKZF3_ENST00000439016.2_Silent_p.T206T|IKZF3_ENST00000351680.3_Silent_p.T262T|IKZF3_ENST00000377952.2_Silent_p.T80T|IKZF3_ENST00000535189.1_Silent_p.T267T|IKZF3_ENST00000377945.3_Silent_p.T167T|IKZF3_ENST00000394189.2_Silent_p.T119T|IKZF3_ENST00000439167.2_Silent_p.T228T|IKZF3_ENST00000377958.2_Silent_p.T214T|IKZF3_ENST00000467757.1_Silent_p.T245T|IKZF3_ENST00000377944.3_Silent_p.T158T|IKZF3_ENST00000346243.3_Silent_p.T223T NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 301 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCATCATGCGGGTCTGTATGA 0.522000 6 81 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119028227 119028227 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:119028227C>T ENST00000328252.3 + 8 3193 c.2824C>T c.(2824-2826)Cat>Tat p.H942Y PAPPA_ENST00000534838.1_5'UTR NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 942 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CACATACATCCATGGAAGTGG 0.428000 4 46 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366549 40366549 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:40366549G>A ENST00000406785.1 - 7 2618 c.2429C>T c.(2428-2430)tCa>tTa p.S810L SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S838L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S810L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S841L|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S846L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S846L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S841L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S810L|SLC8A1-AS1_ENST00000444629.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 846 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACCTGGCACTGATGTTCCAAG 0.453000 3 30 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141244652 141244652 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:141244652G>A ENST00000287008.3 - 3 1391 c.1244C>T c.(1243-1245)gCc>gTc p.A415V PCDH1_ENST00000536585.1_Missense_Mutation_p.A393V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.A415V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.A403V NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 415 Cadherin 4. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTGCACCAGGGCCACAGCTGT 0.582000 12 66 0 0 1 0 0 CCDC170 80129 broad.mit.edu 37 6 151859258 151859258 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:151859258G>A ENST00000367290.5 + 3 354 c.265G>A c.(265-267)Gaa>Aaa p.E89K CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.E89K Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 89 GAGCTACAAGGAAAACAATGC 0.398000 9 53 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2928814 2928814 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:2928814C>T ENST00000397461.1 + 9 1230 c.846C>T c.(844-846)atC>atT p.I282I CNTN4_ENST00000358480.3_Silent_p.I63I|CNTN4_ENST00000427331.1_Silent_p.I282I|CNTN4_ENST00000418658.1_Silent_p.I282I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 282 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTCTTGAGATCCCTAATTTTC 0.413000 4 29 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12776227 12776227 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:12776227G>A ENST00000456935.2 - 3 415 c.375C>T c.(373-375)tcC>tcT p.S125S MAN2B1_ENST00000221363.4_Silent_p.S125S|CTD-2192J16.24_ENST00000597961.1_Silent_p.S122S NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 125 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GCCACCAACGGGAGAAGAAGG 0.582000 17 114 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542280 55542280 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:55542280C>T ENST00000220676.1 + 4 5986 c.5838C>T c.(5836-5838)ttC>ttT p.F1946F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1946 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGAAAATTTCTTGGGTTTTT 0.343000 6 39 0 0 1 0 0 NCF1 653361 broad.mit.edu 37 7 74193755 74193755 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:74193755C>T ENST00000289473.4 + 4 452 c.382C>T c.(382-384)Ccc>Tcc p.P128S NCF1_ENST00000443956.3_3'UTR NM_000265.4 NP_000256.3 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 128 cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 CCTCAAGCTCCCCACGGACAA 0.582000 8 22 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47527697 47527697 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:47527697G>A ENST00000285039.7 - 5 839 c.540C>T c.(538-540)ttC>ttT p.F180F NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 180 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAACGGTGGCGAAATAGCGCA 0.532000 23 131 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221186 63221186 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:63221186C>T ENST00000449996.3 + 18 1537 c.1465C>T c.(1465-1467)Cct>Tct p.P489S RGS9_ENST00000443584.3_Missense_Mutation_p.P489S|RGS9_ENST00000262406.9_Missense_Mutation_p.P492S NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 492 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GCCCCCGTCTCCTTCTAGCCC 0.652000 22 169 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39550333 39550333 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:39550333G>A ENST00000251645.2 - 7 1238 c.1186C>T c.(1186-1188)Cct>Tct p.P396S NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 396 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) CAGGGGGCAGGAGGGACACAA 0.622000 6 70 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133041385 133041385 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:133041385C>T ENST00000262283.5 - 17 1808 c.1709G>A c.(1708-1710)aGg>aAg p.R570K OC90_ENST00000254627.3_Missense_Mutation_p.R358K|OC90_ENST00000443356.2_Missense_Mutation_p.R374K|OC90_ENST00000603859.1_Missense_Mutation_p.R358K Q02509 OC90_HUMAN otoconin 90 374 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCAGCCCAGCCTTCTCACTTG 0.522000 9 75 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30930496 30930496 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:30930496T>C ENST00000597505.1 - 27 3914 c.3915A>G c.(3913-3915)caA>caG p.Q1305Q DCDC1_ENST00000406071.2_Silent_p.Q40Q|DCDC1_ENST00000339794.5_Silent_p.Q384Q 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) CACTTACTGGTTGATCAATGT 0.323000 7 40 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750388 234750388 + Silent SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:234750388A>T ENST00000411486.2 - 8 1103 c.1038T>A c.(1036-1038)gtT>gtA p.V346V HJURP_ENST00000432087.1_Silent_p.V292V|HJURP_ENST00000441687.1_Silent_p.V261V NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 346 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TACGGCAAGAAACATCTAATA 0.443000 4 44 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17264924 17264924 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:17264924C>T ENST00000331428.5 - 4 1067 c.965G>A c.(964-966)tGg>tAg p.W322* NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 322 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CACTGCTGACCAGCAGGAGAA 0.418000 15 59 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106461462 106461462 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:106461462C>T ENST00000261402.2 - 7 2483 c.1104G>A c.(1102-1104)ctG>ctA p.L368L NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 368 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TGGATTTCTTCAGCGACCGCT 0.552000 11 97 0 0 1 0 0 MAEL 84944 broad.mit.edu 37 1 166990927 166990927 + Missense_Mutation SNP A A T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:166990927A>T ENST00000367872.4 + 12 1384 c.1140A>T c.(1138-1140)aaA>aaT p.K380N MAEL_ENST00000367870.2_Missense_Mutation_p.K349N|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 380 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CTAGGGCAAAAATTTCTGGCC 0.378000 6 36 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89133219 89133219 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:89133219G>A ENST00000535633.1 - 11 1278 c.968C>T c.(967-969)tCt>tTt p.S323F NOX4_ENST00000528341.1_Missense_Mutation_p.S322F|NOX4_ENST00000413594.2_Missense_Mutation_p.S368F|NOX4_ENST00000534731.1_Missense_Mutation_p.S347F|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.S323F|NOX4_ENST00000424319.1_Missense_Mutation_p.S323F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.S323F|NOX4_ENST00000542487.1_Missense_Mutation_p.S323F|NOX4_ENST00000527956.1_Missense_Mutation_p.S323F|NOX4_ENST00000527626.1_Missense_Mutation_p.S181F|NOX4_ENST00000263317.4_Missense_Mutation_p.S347F|NOX4_ENST00000525196.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 347 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TTCTAATGCAGATACACTGGG 0.299000 8 42 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283059 69283059 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:69283059C>T ENST00000338352.2 + 1 719 c.685C>T c.(685-687)Ctg>Ttg p.L229L NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 229 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GTCGCACGTCCTGAAGACCCC 0.612000 7 28 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20996763 20996763 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:20996763C>T ENST00000261383.3 - 48 7300 c.7301G>A c.(7300-7302)gGc>gAc p.G2434D DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2434 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCCCCCTATGCCCACCAGGAG 0.552000 4 24 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026137 56026137 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:56026137C>T ENST00000288221.6 - 11 2458 c.2203G>A c.(2203-2205)Gag>Aag p.E735K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 735 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCTCCACCTCCTTGAGGATC 0.468000 27 141 0 0 1 0 0 AMICA1 120425 broad.mit.edu 37 11 118074365 118074365 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:118074365G>A ENST00000292067.7 - 5 961 c.520C>T c.(520-522)Cgt>Tgt p.R174C AMICA1_ENST00000533261.1_Missense_Mutation_p.R173C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R184C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 184 Ig-like V-type 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R174G(1)|p.R174C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTAGTAACGAAATACAATC 0.502000 13 63 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108714063 108714063 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:108714063G>A ENST00000361189.2 - 4 1364 c.1125C>T c.(1123-1125)ttC>ttT p.F375F PJA2_ENST00000361557.3_Silent_p.F375F NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 375 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GTGGATCCAAGAACATACAGT 0.413000 9 76 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68704306 68704306 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:68704306C>T ENST00000255078.3 + 13 2469 c.2358C>T c.(2356-2358)gcC>gcT p.A786A NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 786 R3H. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCAAGAGGGCCCCGCGACCCC 0.687000 7 39 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215809781 215809781 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:215809781C>T ENST00000272895.7 - 49 7506 c.7287G>A c.(7285-7287)tgG>tgA p.W2429* ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W2111*|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2429 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAATGATCTTCCAGAGGTGCC 0.388000 3 29 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227471 38227471 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:38227471G>A ENST00000373048.4 - 3 455 c.456C>T c.(454-456)atC>atT p.I152I EPHA10_ENST00000319637.6_Silent_p.I152I|EPHA10_ENST00000427468.2_Silent_p.I152I NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 152 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) CGATCGTGTCGATTTTGCGGG 0.662000 15 53 0 0 1 0 0 GYPB 2994 broad.mit.edu 37 4 144918732 144918732 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:144918732C>T ENST00000283126.7 - 4 286 c.231G>A c.(229-231)acG>acA p.T77T GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Silent_p.T77T|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Silent_p.T44T|GYPB_ENST00000429670.2_Intron glycophorin B (MNS blood group) breast(1)|large_intestine(2)|skin(1) 4 all_hematologic(180;0.158) TTAAGAGGATCGTTCCAATAA 0.358000 10 28 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437808 125437808 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:125437808A>C ENST00000304820.2 + 1 494 c.400A>C c.(400-402)Act>Cct p.T134P NM_001005234.1 NP_001005234.1 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, member 3 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 CCATTATGTCACTGTTATGAA 0.458000 14 148 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228238581 228238581 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:228238581C>T ENST00000284523.1 + 3 616 c.538C>T c.(538-540)Cgc>Tgc p.R180C WNT3A_ENST00000366753.2_Missense_Mutation_p.R180C NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 180 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCCAGATGCCCGCTCAGCCAT 0.647000 7 32 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83360865 83360865 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:83360865C>T ENST00000262752.2 - 16 1392 c.1385G>A c.(1384-1386)cGa>cAa p.R462Q RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R462Q NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 462 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TGAAGGGTCTCGCTTACTTTT 0.308000 3 21 0 0 1 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155693 173155693 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:173155693G>A ENST00000281834.3 - 3 650 c.514C>T c.(514-516)Ctt>Ttt p.L172F TNFSF4_ENST00000367718.1_Missense_Mutation_p.L122F NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 172 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 TGATGGATAAGAATCAGTTCT 0.478000 6 62 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189455616 189455616 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:189455616C>T ENST00000264731.3 + 2 239 c.150C>T c.(148-150)ctC>ctT p.L50L TP63_ENST00000440651.2_Silent_p.L50L|TP63_ENST00000418709.2_Silent_p.L50L|TP63_ENST00000320472.5_Silent_p.L50L|TP63_ENST00000382063.4_Silent_p.L50L|TP63_ENST00000392460.3_Silent_p.L50L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 50 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATGAATTCCTCAGTCCAGAGG 0.398000 HNSCC(45;0.13) 25 48 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89828358 89828358 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:89828358C>T ENST00000310775.7 + 18 1816 c.1730C>T c.(1729-1731)tCt>tTt p.S577F FANCI_ENST00000300027.8_Missense_Mutation_p.S577F NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 577 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CATTACAATTCTGTCGCCAAT 0.433000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 112 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70514312 70514312 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:70514312G>A ENST00000377844.4 - 4 1633 c.874C>T c.(874-876)Ctt>Ttt p.L292F KLHL1_ENST00000545028.1_Missense_Mutation_p.L99F NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 292 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGAAGCTGAAGAAGGCACGCT 0.433000 5 19 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168271636 168271636 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:168271636G>T ENST00000519560.1 - 6 929 c.510C>A c.(508-510)agC>agA p.S170R SLIT3_ENST00000404867.3_Missense_Mutation_p.S170R|SLIT3_ENST00000332966.8_Missense_Mutation_p.S170R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 170 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCAATGCAGCTGATGTGGT 0.597000 8 30 3.09899e-07 3.12916e-07 1 1 0 FBN3 84467 broad.mit.edu 37 19 8148155 8148155 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:8148155C>T ENST00000600128.1 - 57 7603 c.7189G>A c.(7189-7191)Gat>Aat p.D2397N FBN3_ENST00000601739.1_Missense_Mutation_p.D2397N|FBN3_ENST00000270509.2_Missense_Mutation_p.D2397N Q75N90 FBN3_HUMAN fibrillin 3 2397 EGF-like 38; 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 GCAGTAGCATCCGGTGTGTAC 0.607000 24 114 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73551077 73551077 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:73551077G>A ENST00000224721.6 + 46 6258 c.6253G>A c.(6253-6255)Gag>Aag p.E2085K NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2080 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCATCTGCTAGAGAACTGCCC 0.637000 4 22 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54554694 54554694 + Missense_Mutation SNP C C T rs147285202 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:54554694C>T ENST00000338372.2 - 4 539 c.364G>A c.(364-366)Gat>Aat p.D122N VSTM1_ENST00000376626.1_Missense_Mutation_p.D122N|VSTM1_ENST00000366170.2_Missense_Mutation_p.D34N|VSTM1_ENST00000425006.2_Missense_Mutation_p.D122N NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 122 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TCAAGTTCATCGTGTTTATCT 0.393000 6 21 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24794630 24794630 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:24794630G>A ENST00000310677.4 - 15 1889 c.1776C>T c.(1774-1776)ttC>ttT p.F592F ADCY4_ENST00000396747.3_Silent_p.F285F|ADCY4_ENST00000418030.2_Silent_p.F592F|ADCY4_ENST00000554068.2_Silent_p.F592F NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 592 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GAAAAACCAGGAAGGTGCAGG 0.532000 8 45 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940270 31940270 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:31940270C>T ENST00000375331.2 + 2 578 c.412C>T c.(412-414)Cct>Tct p.P138S STK19_ENST00000375333.2_Missense_Mutation_p.P138S|STK19_ENST00000463823.1_3'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 138 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GGAGTCGGATCCTCTTCGGGG 0.612000 5 99 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121692677 121692677 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:121692677T>C ENST00000369075.3 + 17 2991 c.2919T>C c.(2917-2919)taT>taC p.Y973Y SEC23IP_ENST00000543134.1_Silent_p.Y762Y|SEC23IP_ENST00000475542.1_3'UTR NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 973 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) ACTTATGCTATTGGTAAGTGT 0.368000 12 62 0 0 1 0 0 NXPE4 54827 broad.mit.edu 37 11 114450894 114450894 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:114450894C>T ENST00000375478.3 - 5 1239 c.1059G>A c.(1057-1059)acG>acA p.T353T NXPE4_ENST00000424261.2_Silent_p.T69T NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ACTGGCGGATCGTGGAATCTC 0.413000 7 129 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94640213 94640213 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:94640213C>T ENST00000260526.6 - 23 3180 c.2998G>A c.(2998-3000)Gat>Aat p.D1000N NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1000 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTTGACCTATCAGATTTCAGA 0.418000 21 85 0 0 1 0 0 ZADH2 284273 broad.mit.edu 37 18 72913800 72913800 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:72913800C>T ENST00000322342.3 - 2 994 c.705G>A c.(703-705)caG>caA p.Q235Q ZADH2_ENST00000537114.2_Silent_p.Q112Q NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 235 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CAGGGTACTCCTGCTTAAGGA 0.478000 4 79 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61597359 61597359 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:61597359G>A ENST00000238508.3 + 6 630 c.571G>A c.(571-573)Gga>Aga p.G191R NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) ATACTTTAAAGGAATCTGGGA 0.393000 11 63 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103968 53103968 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:53103968G>A ENST00000408890.4 + 1 620 c.604G>A c.(604-606)Gac>Aac p.D202N NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 202 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGAGGTCTCAGACAGCAAGGG 0.672000 7 93 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65113553 65113553 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:65113553G>A ENST00000371073.2 + 9 1226 c.1226G>A c.(1225-1227)gGt>gAt p.G409D CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.G358D Q5VU97 CAHD1_HUMAN cache domain containing 1 409 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GGGAAGTACGGTGTGCCAGAC 0.512000 9 47 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129825186 129825186 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:129825186G>A ENST00000397622.2 - 7 919 c.797C>T c.(796-798)cCt>cTt p.P266L TMEM209_ENST00000462753.1_Missense_Mutation_p.P265L|TMEM209_ENST00000473456.1_Missense_Mutation_p.P266L|TMEM209_ENST00000336804.8_Missense_Mutation_p.P265L|RP11-775D22.3_ENST00000483283.1_RNA NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 266 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) ACTGCTGGAAGGAGAGGTAGA 0.413000 13 163 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48382187 48382187 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:48382187G>A ENST00000224600.4 - 4 3575 c.3462C>T c.(3460-3462)ttC>ttT p.F1154F NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1154 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGATATAGGTGAACTCCTCCG 0.597000 5 40 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110754401 110754401 + Missense_Mutation SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:110754401T>C ENST00000369787.3 + 1 307 c.280T>C c.(280-282)Ttc>Ctc p.F94L KCNC4_ENST00000413138.3_Missense_Mutation_p.F94L|KCNC4_ENST00000438661.2_Missense_Mutation_p.F94L NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 94 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) gggctgcgAGTTCTTCTTCGA 0.736000 5 28 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257841 18257841 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:18257841C>T ENST00000286479.3 + 2 435 c.328C>T c.(328-330)Ctg>Ttg p.L110L NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 110 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TCACCTTCTCCTGCAGGTGAC 0.483000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 10 89 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142281548 142281548 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:142281548G>A ENST00000378004.3 + 7 1001 c.646G>A c.(646-648)Gaa>Aaa p.E216K ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E216K NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 216 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATGGTTACGAACTGGCCAA 0.453000 7 80 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829338 146829338 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:146829338G>A ENST00000361727.3 + 8 1601 c.1083_splice c.e8-1 p.G362_splice NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 362 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.G362E(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTTTACAGGGAAATTTGAGC 0.433000 HNSCC(39;0.1) 21 42 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85466569 85466569 + Silent SNP C C T rs150088516 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:85466569C>T ENST00000369663.5 - 4 955 c.618G>A c.(616-618)tcG>tcA p.S206S TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.S48S NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 206 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CCATCCATTTCGAACTGTGGT 0.488000 6 34 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077901 19077901 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:19077901C>T ENST00000329773.2 - 2 136 c.49G>A c.(49-51)Gga>Aga p.G17R NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 17 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 TGGTCATTTCCATTCACTGTT 0.527000 46 265 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621214 179621214 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179621214G>A ENST00000589042.1 - 46 11213 c.10989C>T c.(10987-10989)ttC>ttT p.F3663F TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Silent_p.F3492F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3348 Ig-like 22. 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) GAAGATGCAGGAAAATCTTGG 0.458000 4 40 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107578611 107578611 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:107578611G>A ENST00000374736.3 - 25 3945 c.3551C>T c.(3550-3552)tCc>tTc p.S1184F NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1184 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GATGAGGTTGGAGATAGCAGA 0.557000 13 47 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119945476 119945476 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:119945476C>T ENST00000297350.4 - 2 472 c.94G>A c.(94-96)Gac>Aac p.D32N NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 32 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) GTTTCTTCGTCATAATGAAGG 0.468000 10 136 0 0 1 0 0 FUT4 2526 broad.mit.edu 37 11 94278655 94278655 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:94278655C>T ENST00000358752.2 + 1 1639 c.1356C>T c.(1354-1356)ccC>ccT p.P452P RP11-867G2.8_ENST00000536540.1_RNA NM_002033.3 NP_002024.1 P22083 FUT4_HUMAN fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 452 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction alpha(1,3)-fucosyltransferase activity central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCTTTGTGCCCCGCGGCGCCT 0.647000 5 68 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46825152 46825152 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:46825152C>T ENST00000339613.2 + 10 1351 c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L HIF3A_ENST00000600383.1_Silent_p.L353L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Silent_p.L371L|HIF3A_ENST00000377670.4_Silent_p.L422L|HIF3A_ENST00000244303.6_Silent_p.L353L|HIF3A_ENST00000300862.3_Silent_p.L420L|HIF3A_ENST00000472815.1_Silent_p.L353L Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) GGGACCCATCCTGGATGGGGC 0.672000 16 68 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070231 9070231 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9070231C>T ENST00000397910.4 - 3 17418 c.17215G>A c.(17215-17217)Gat>Aat p.D5739N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5741 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 GTGTGTGAATCAGCTGGGACA 0.483000 13 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434202 179434202 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179434202C>T ENST00000589042.1 - 326 76881 c.76657G>A c.(76657-76659)Gat>Aat p.D25553N TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16488N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16613N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D23912N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16680N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D22985N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23912 Fibronectin type-III 86. 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) ATAGCTGCATCTCGGATTTCA 0.393000 5 34 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114262971 114262971 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:114262971G>A ENST00000357077.4 + 33 4074 c.4021G>A c.(4021-4023)Gaa>Aaa p.E1341K ANK2_ENST00000394537.3_Missense_Mutation_p.E1341K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1308K|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000509550.1_Missense_Mutation_p.E517K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1332K NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1308 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) TGACCCCATTGAAGCCAGGTT 0.423000 19 85 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768661 31768661 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:31768661C>T ENST00000240587.4 - 2 2365 c.2038G>A c.(2038-2040)Gat>Aat p.D680N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 680 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGGCTCCCATCCTTGCACCCA 0.652000 6 54 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906682 12906682 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:12906682C>T ENST00000380659.3 + 3 3194 c.3055C>T c.(3055-3057)Ccg>Tcg p.P1019S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 1019 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GCCAACAAACCCGCAAGCTCA 0.498000 46 104 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187501808 187501808 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:187501808C>T ENST00000261023.3 + 8 1048 c.774C>T c.(772-774)gtC>gtT p.V258V ITGAV_ENST00000433736.2_Silent_p.V212V|ITGAV_ENST00000374907.3_Silent_p.V222V NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 258 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) CTGTGGCTGTCGGAGATTTCA 0.368000 13 97 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012269 29012269 + Silent SNP C C T rs144276666 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:29012269C>T ENST00000377175.1 - 1 748 c.684G>A c.(682-684)acG>acA p.T228T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T228T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 CTTTTGACTTCGTTCTCAGCA 0.393000 9 148 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8990110 8990110 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:8990110G>A ENST00000299698.7 + 8 983 c.803G>A c.(802-804)cGa>cAa p.R268Q NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 112 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 TACTGGTATCGAGAGGTGGAA 0.493000 7 56 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136529109 136529109 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:136529109C>T ENST00000371872.4 - 21 2916 c.2659G>A c.(2659-2661)Gac>Aac p.D887N SARDH_ENST00000439388.1_Missense_Mutation_p.D887N|SARDH_ENST00000422262.2_Missense_Mutation_p.D719N|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000371868.1_Missense_Mutation_p.D337N NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 887 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) AGGGCATAGTCCCCGCTCTTC 0.577000 15 35 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72267020 72267020 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:72267020C>T ENST00000340726.3 - 3 760 c.121G>A c.(121-123)Gaa>Aaa p.E41K EYA1_ENST00000388740.3_Intron|EYA1_ENST00000303824.7_Missense_Mutation_p.E41K|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000388743.2_Missense_Mutation_p.E41K|EYA1_ENST00000419131.1_Missense_Mutation_p.E41K|EYA1_ENST00000388742.4_Missense_Mutation_p.E41K NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 41 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CACTCACCTTCGGTGCCATTG 0.433000 13 106 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41202555 41202555 + Silent SNP T T C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:41202555T>C ENST00000399959.2 + 7 1485 c.630T>C c.(628-630)gcT>gcC p.A210A DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Silent_p.A194A|DDX3X_ENST00000542215.1_Silent_p.A254A|DDX3X_ENST00000441189.2_Intron NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 210 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 AAAAGCATGCTATTCCTATTA 0.378000 HNSCC(61;0.18) 6 19 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3081315 3081315 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:3081315C>T ENST00000520002.1 - 29 4978 c.4423G>A c.(4423-4425)Ggg>Agg p.G1475R CSMD1_ENST00000602723.1_Missense_Mutation_p.G1475R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1475R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1474R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1475R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1475 CUB 9. 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) CATTCCTTCCCAGGAGGATAC 0.473000 6 73 0 0 1 0 0 CUZD1 50624 broad.mit.edu 37 10 124598641 124598641 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:124598641G>A ENST00000368904.1 - 5 1289 c.340C>T c.(340-342)Cct>Tct p.P114S CUZD1_ENST00000545804.1_Missense_Mutation_p.P114S|CUZD1_ENST00000392790.1_Missense_Mutation_p.P114S Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 114 CUB 1. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TCAAATACAGGAACATAGTCG 0.408000 12 186 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113890349 113890349 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:113890349C>T ENST00000361779.3 + 6 678 c.333C>T c.(331-333)ttC>ttT p.F111F IL1RN_ENST00000409930.3_Silent_p.F145F|IL1RN_ENST00000354115.2_Silent_p.F127F|IL1RN_ENST00000259206.5_Silent_p.F148F|IL1RN_ENST00000409052.1_Silent_p.F111F NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 145 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) CCGGTTGGTTCCTCTGCACAG 0.577000 Lichen Sclerosis et Atrophicus, Familial Clustering of 22 98 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818797 159818797 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:159818797G>A ENST00000497452.1 - 0 517 AGACAAAAACGATCATGACAA 0.488000 47 175 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44591126 44591126 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:44591126C>T ENST00000421176.3 + 5 1711 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TTCAAAACTTCGTTTCCATCA 0.418000 5 34 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152320385 152320385 + Missense_Mutation SNP C C A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:152320385C>A ENST00000243326.4 + 29 4834 c.4351C>A c.(4351-4353)Ctt>Att p.L1451I RIF1_ENST00000428287.2_Missense_Mutation_p.L1451I|RIF1_ENST00000430328.2_Missense_Mutation_p.L1451I|RIF1_ENST00000444746.2_Missense_Mutation_p.L1451I|RIF1_ENST00000453091.2_Missense_Mutation_p.L1451I Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1451 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AGAAAAACCTCTTCAGAAGAG 0.358000 14 47 4.3838e-07 4.42555e-07 1 1 0 SH3D19 152503 broad.mit.edu 37 4 152096188 152096188 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:152096188C>T ENST00000409598.4 - 7 1495 c.328G>A c.(328-330)Ggc>Agc p.G110S SH3D19_ENST00000455740.1_Missense_Mutation_p.G110S|SH3D19_ENST00000304527.4_Missense_Mutation_p.G110S|SH3D19_ENST00000409252.2_Missense_Mutation_p.G110S|SH3D19_ENST00000514152.1_Missense_Mutation_p.G110S|SH3D19_ENST00000424281.1_Missense_Mutation_p.G110S|SH3D19_ENST00000427414.2_Missense_Mutation_p.G110S Q5HYK7 SH319_HUMAN SH3 domain containing 19 110 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CGTATAAGGCCAGGGTTTGGT 0.547000 6 104 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129563268 129563268 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:129563268G>A ENST00000422113.2 - 8 2252 c.1926C>T c.(1924-1926)atC>atT p.I642I TMEM132D_ENST00000389441.4_Silent_p.I180I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 642 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GAGGAGACAGGATCTGGAGGG 0.587000 9 53 0 0 1 0 0 THRB 7068 broad.mit.edu 37 3 24185081 24185081 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:24185081C>T ENST00000396671.2 - 8 997 c.649G>A c.(649-651)Gag>Aag p.E217K THRB_ENST00000280696.5_Missense_Mutation_p.E232K|THRB_ENST00000356447.4_Missense_Mutation_p.E217K|THRB_ENST00000416420.1_Missense_Mutation_p.E217K NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 217 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TCCCATTCCTCGTCTGTGGGC 0.567000 15 78 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81283924 81283924 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:81283924G>A ENST00000358105.3 + 2 177 c.128G>A c.(127-129)cGc>cAc p.R43H C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Missense_Mutation_p.R43H NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 43 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACCCTGGCCCGCCAGTTGGTG 0.443000 18 106 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115398061 115398061 + Splice_Site SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:115398061G>A ENST00000369522.3 + 2 216 c.e2-1 SYCP1_ENST00000369518.1_Splice_Site NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGGGCAGTAGATATTTACAA 0.448000 5 37 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2050068 2050068 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:2050068G>A ENST00000563630.1 - 9 1559 c.1317C>T c.(1315-1317)ccC>ccT p.P439P ZNF598_ENST00000562103.1_Silent_p.P439P|ZNF598_ENST00000431526.1_Silent_p.P494P Q86UK7 ZN598_HUMAN zinc finger protein 598 494 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TGCCAGGCTTGGGCACCGAGG 0.687000 5 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:13923469C>T ENST00000265104.4 - 4 462 c.358G>A c.(358-360)Gat>Aat p.D120N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D120N(1) 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) AGAGCCACATCGTTTCCCTCG 0.458000 Kartagener syndrome 26 143 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96135875 96135875 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:96135875C>T ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) cacctttgtcctgttttctac 0.527000 T TRA@ T-ALL 8 35 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585020 82585020 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:82585020C>T ENST00000423517.2 - 5 5586 c.5249G>A c.(5248-5250)gGa>gAa p.G1750E PCLO_ENST00000333891.8_Missense_Mutation_p.G1750E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1681 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G1750E(2)|p.G1681E(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTGCTCTCTCCTTTTTTGTG 0.473000 27 111 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103907109 103907109 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:103907109C>T ENST00000278070.2 + 9 4399 c.4360C>T c.(4360-4362)Cgg>Tgg p.R1454W PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R421W NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1454 Arg-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) ATCCCGATCTCGGTCCAGGTC 0.582000 7 69 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160819 132160819 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:132160819G>A ENST00000511190.1 - 6 1899 c.1430C>T c.(1429-1431)tCa>tTa p.S477L USP26_ENST00000406273.1_Missense_Mutation_p.S477L|USP26_ENST00000370832.1_Missense_Mutation_p.S477L NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 477 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTGAATAGATGAAGGATGTGC 0.393000 32 107 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58471423 58471423 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:58471423C>T ENST00000219919.4 + 5 962 c.592C>T c.(592-594)Ctc>Ttc p.L198F AQP9_ENST00000536493.1_Missense_Mutation_p.L198F|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L133F NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 198 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) TGCCATCGGCCTCCTGATTAT 0.552000 6 33 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179720109 179720109 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:179720109C>T ENST00000420890.2 - 19 3142 c.3025G>A c.(3025-3027)Gac>Aac p.D1009N CCDC141_ENST00000295723.5_Missense_Mutation_p.D434N NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 434 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCAGTCAGGTCCAAATTCTTC 0.353000 16 42 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700836 136700836 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:136700836C>T ENST00000445907.2 + 3 1752 c.1224C>T c.(1222-1224)ctC>ctT p.L408L CHRM2_ENST00000320658.5_Silent_p.L408L|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.L408L|CHRM2_ENST00000453373.1_Silent_p.L408L|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.L408L|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Silent_p.L408L|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 408 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCATGGTGCTCATTAACACCT 0.478000 11 146 0 0 1 0 0 LIME1 54923 broad.mit.edu 37 20 62370244 62370244 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:62370244C>T ENST00000309546.3 + 6 966 c.879C>T c.(877-879)tcC>tcT p.S293S LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR NM_017806.2 NP_060276.2 Lck interacting transmembrane adaptor 1 kidney(1)|large_intestine(1)|liver(1) 3 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) TCCCTGCCTCCCTGCCCTGAA 0.721000 5 15 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42266899 42266899 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr22:42266899G>T ENST00000361204.4 + 4 893 c.727G>T c.(727-729)Gtc>Ttc p.V243F NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 243 Gln-rich.|Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCAGGTCCTGGTCCAGCCTCA 0.473000 16 109 1.5739e-10 1.59259e-10 1 1 0 CD86 942 broad.mit.edu 37 3 121822543 121822543 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121822543G>A ENST00000330540.2 + 3 365 c.249G>A c.(247-249)atG>atA p.M83I CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.M77I|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Start_Codon_SNP_p.M1I NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 83 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CCAAGTATATGGGCCGCACAA 0.418000 25 93 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99356564 99356564 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:99356564C>T ENST00000376503.5 - 17 1450 c.1395G>A c.(1393-1395)tgG>tgA p.W465* NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 465 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GATTGGGGGCCCACACTAGAA 0.458000 23 82 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246904 89246904 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:89246904G>A ENST00000496168.1 - 0 446 TTCTGTCCCAGATCCACTGCC 0.478000 12 120 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38418267 38418267 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr5:38418267C>T ENST00000322350.5 + 12 1940 c.1594C>T c.(1594-1596)Caa>Taa p.Q532* EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Nonsense_Mutation_p.Q298*|EGFLAM_ENST00000354891.3_Nonsense_Mutation_p.Q532* NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 532 Laminin G-like 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) CCGAGGCTTTCAAGGCTGTGT 0.547000 13 41 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31652477 31652477 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr20:31652477C>T ENST00000375494.3 + 8 750 c.750C>T c.(748-750)atC>atT p.I250I NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 250 innate immune response cytoplasm|extracellular region lipid binding|protein binding p.I250I(1) TGCAGCCTATCGTGAAGAGTG 0.607000 14 42 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142573598 142573598 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142573598G>A ENST00000359396.3 - 7 1067 c.822C>T c.(820-822)acC>acT p.T274T RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 274 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) AGAGAGTCGAGGTCAGTGGTC 0.522000 40 70 0 0 1 0 0 PHTF1 10745 broad.mit.edu 37 1 114240331 114240331 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:114240331G>A ENST00000369604.1 - 19 2768 c.2285C>T c.(2284-2286)tCa>tTa p.S762L PHTF1_ENST00000393357.2_Missense_Mutation_p.S762L|PHTF1_ENST00000369598.1_Missense_Mutation_p.S717L|PHTF1_ENST00000369600.1_Missense_Mutation_p.S709L|PHTF1_ENST00000369596.2_Missense_Mutation_p.S709L|PHTF1_ENST00000474926.1_5'UTR Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 762 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCAGCTTATGATTTAATTTT 0.388000 8 35 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54417318 54417318 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:54417318G>A ENST00000245451.4 - 4 1052 c.659C>T c.(658-660)gCg>gTg p.A220V BMP4_ENST00000417573.1_Missense_Mutation_p.A220V|BMP4_ENST00000558984.1_Missense_Mutation_p.A220V|BMP4_ENST00000559087.1_Missense_Mutation_p.A220V NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 220 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 GCGAAGGACCGCAGGGCTCAC 0.587000 17 81 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235794 3235794 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:3235794C>T ENST00000217939.6 - 6 6082 c.5928G>A c.(5926-5928)ggG>ggA p.G1976G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1976 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGGCTGGGGTCCCTTTGGCCA 0.592000 7 26 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97377634 97377634 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:97377634G>A ENST00000264963.4 - 5 658 c.636C>T c.(634-636)ttC>ttT p.F212F LMAN2L_ENST00000537039.1_Silent_p.F74F|LMAN2L_ENST00000534882.1_Silent_p.F67F|LMAN2L_ENST00000426463.2_Silent_p.F78F|LMAN2L_ENST00000377079.4_Silent_p.F223F NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 212 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 GAATCACCAGGAAGGTGTCGT 0.572000 4 82 0 0 1 0 0 GPR183 1880 broad.mit.edu 37 13 99947440 99947440 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:99947440C>T ENST00000376414.4 - 2 1043 c.960G>A c.(958-960)atG>atA p.M320I UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron NM_004951.4 NP_004942.1 P32249 GP183_HUMAN G protein-coupled receptor 183 320 humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 23 TCAGCATCCTCATAACCTTTC 0.408000 17 50 0 0 1 0 0 OR5T1 390155 broad.mit.edu 37 11 56043953 56043953 + Missense_Mutation SNP C C T rs149057096 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:56043953C>T ENST00000313033.2 + 1 925 c.839C>T c.(838-840)tCg>tTg p.S280L NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S280L(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) AGCTACACTTCGGACAATGAC 0.408000 27 117 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863245 55863245 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:55863245G>A ENST00000327335.4 - 1 677 c.678C>T c.(676-678)ttC>ttT p.F226F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GAGCTGAAGGGAATTTCAGAA 0.358000 12 95 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167035297 167035297 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:167035297C>T ENST00000392766.2 - 13 1412 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K ZBBX_ENST00000392767.2_Missense_Mutation_p.E358K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E358K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E358K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E329K|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 358 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCATCGTTTTCATTTTGAGAA 0.333000 5 63 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71849911 71849911 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr10:71849911G>A ENST00000373255.4 + 3 532 c.268G>A c.(268-270)Gag>Aag p.E90K NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 90 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 CAATGACGAGGAGCTCAACCA 0.547000 7 80 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21252650 21252650 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:21252650C>T ENST00000233242.1 - 12 1605 c.1478G>A c.(1477-1479)gGa>gAa p.G493E APOB_ENST00000399256.4_Missense_Mutation_p.G493E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 493 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCCATATTTCCAATGACCTG 0.428000 19 79 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29202985 29202985 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:29202985C>T ENST00000240101.2 - 2 1621 c.62G>A c.(61-63)aGg>aAg p.R21K DUSP4_ENST00000240100.2_Intron NM_057158.3 NP_476499.1 Q13115 DUS4_HUMAN dual specificity phosphatase 4 0 endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) TCTCCCAGTCCTCCTGGGCGA 0.557000 5 69 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121350723 121350723 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:121350723G>A ENST00000314583.3 - 14 1522 c.1431C>T c.(1429-1431)ttC>ttT p.F477F HCLS1_ENST00000428394.2_Silent_p.F440F|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 477 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AATTTGCAGGGAAGAGTCCAA 0.532000 15 72 0 0 1 0 0 GPR182 11318 broad.mit.edu 37 12 57389030 57389030 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:57389030G>A ENST00000300098.1 + 2 256 c.37G>A c.(37-39)Gag>Aag p.E13K NM_007264.3 NP_009195.1 O15218 GP182_HUMAN G protein-coupled receptor 182 13 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 15 TGGCCCCTCGGAGGGGGTCAC 0.597000 24 117 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18237529 18237529 + Missense_Mutation SNP A A C TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:18237529A>C ENST00000229002.2 - 5 463 c.257T>G c.(256-258)aTc>aGc p.I86S RERGL_ENST00000536890.1_Intron|RERGL_ENST00000538724.1_Missense_Mutation_p.I85S|RERGL_ENST00000541632.1_5'UTR NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 86 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 CCTATCACTGATGTCATACAC 0.393000 13 80 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110590218 110590218 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:110590218C>T ENST00000399066.3 - 5 1481 c.754G>A c.(754-756)Gaa>Aaa p.E252K SYBU_ENST00000528647.1_Missense_Mutation_p.E254K|SYBU_ENST00000422135.1_Missense_Mutation_p.E255K|SYBU_ENST00000446070.2_Missense_Mutation_p.E254K|SYBU_ENST00000533895.1_Missense_Mutation_p.E254K|SYBU_ENST00000276646.9_Missense_Mutation_p.E255K|SYBU_ENST00000528331.1_Missense_Mutation_p.E136K|SYBU_ENST00000533171.1_Missense_Mutation_p.E255K|SYBU_ENST00000419099.1_Missense_Mutation_p.E254K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000408908.2_Missense_Mutation_p.E255K|SYBU_ENST00000440310.1_Missense_Mutation_p.E255K|SYBU_ENST00000529690.1_Missense_Mutation_p.E125K|SYBU_ENST00000408889.3_Missense_Mutation_p.E136K|SYBU_ENST00000532779.1_Missense_Mutation_p.E187K|SYBU_ENST00000433638.1_Missense_Mutation_p.E255K|SYBU_ENST00000529175.1_Missense_Mutation_p.E49K|SYBU_ENST00000533065.1_Missense_Mutation_p.E136K|SYBU_ENST00000424158.2_Missense_Mutation_p.E260K NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 255 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 CCATGATTTTCACCGCAAGAC 0.433000 11 161 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778761 36778761 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:36778761C>T ENST00000416516.2 - 2 1880 c.1390G>A c.(1390-1392)Gcc>Acc p.A464T NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 464 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGGACGAGGGCTTTGCATAAG 0.517000 6 38 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55505754 55505754 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:55505754G>A ENST00000543010.1 + 11 2969 c.2826G>A c.(2824-2826)atG>atA p.M942I NLRP2_ENST00000427260.2_Missense_Mutation_p.M919I|NLRP2_ENST00000391721.4_Missense_Mutation_p.M918I|NLRP2_ENST00000339757.7_Missense_Mutation_p.M920I|NLRP2_ENST00000537859.1_Missense_Mutation_p.M920I|NLRP2_ENST00000263437.6_Missense_Mutation_p.M939I|NLRP2_ENST00000448584.2_Missense_Mutation_p.M942I|NLRP2_ENST00000538819.1_Missense_Mutation_p.M918I NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 942 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TTAAGGGAATGAAGTTCCTGT 0.428000 15 84 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148562531 148562531 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:148562531G>A ENST00000491148.1 + 9 1089 c.755G>A c.(754-756)aGa>aAa p.R252K CPB1_ENST00000282957.4_Missense_Mutation_p.R252K P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 252 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GACCCCAACAGAAATTTTGAT 0.403000 9 73 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173734834 173734834 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:173734834C>T ENST00000506823.1 + 7 1540 c.883C>T c.(883-885)Cct>Tct p.P295S GALNTL6_ENST00000508122.1_Missense_Mutation_p.P278S NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 295 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AATCCCCATCCCTCCAGAGCT 0.557000 8 36 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69030850 69030850 + Missense_Mutation SNP C C T rs150128151 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:69030850C>T ENST00000288368.4 + 27 3669 c.3392C>T c.(3391-3393)tCg>tTg p.S1131L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1131 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAGTGCAGCTCGTATTTCCAC 0.438000 12 80 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071149 70071149 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:70071149G>A ENST00000370598.1 + 29 4805 c.3984G>A c.(3982-3984)atG>atA p.M1328I BAI3_ENST00000546190.1_Missense_Mutation_p.M292I|BAI3_ENST00000238918.8_Missense_Mutation_p.M534I NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1328 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAAGCAAAATGAATATTGGCA 0.383000 11 63 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10312174 10312174 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:10312174C>T ENST00000287652.4 + 4 2359 c.1308C>T c.(1306-1308)gcC>gcT p.A436A RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.A436A NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 436 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 ACATGGAGGCCTCAGAGGAAG 0.522000 16 85 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163011 72163011 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:72163011C>T ENST00000537465.1 - 13 2077 c.1919G>A c.(1918-1920)gGa>gAa p.G640E PMFBP1_ENST00000237353.10_Missense_Mutation_p.G635E|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G490E Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 640 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) TTCAAGTTCTCCCTCCATCAG 0.488000 64 230 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159275794 159275794 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:159275794G>A ENST00000368115.1 + 5 447 c.348G>A c.(346-348)caG>caA p.Q116Q FCER1A_ENST00000368114.1_Silent_p.Q83Q NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 116 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGCTCCTTCAGGCCTCTGCTG 0.458000 9 34 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086083 92086083 + Missense_Mutation SNP G G T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:92086083G>T ENST00000298047.6 + 1 822 c.805G>T c.(805-807)Gtc>Ttc p.V269F FAT3_ENST00000541502.1_Missense_Mutation_p.V269F|FAT3_ENST00000525166.1_Missense_Mutation_p.V119F|FAT3_ENST00000409404.2_Missense_Mutation_p.V269F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 269 Cadherin 3. 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) AATCCATGTAGTCACTCATGT 0.438000 TCGA Ovarian(4;0.039) 13 110 0.00010058 0.000101216 1 1 0 ARHGAP31 57514 broad.mit.edu 37 3 119099807 119099807 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:119099807C>T ENST00000264245.4 + 4 937 c.405C>T c.(403-405)atC>atT p.I135I NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 135 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AAAATGTTATCCAGGAGCTTC 0.507000 7 53 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854438 18854438 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:18854438C>T ENST00000266505.7 - 9 1277 c.1014G>A c.(1012-1014)aaG>aaA p.K338K PLCZ1_ENST00000435379.1_Silent_p.K143K|PLCZ1_ENST00000539875.1_Silent_p.K145K|PLCZ1_ENST00000538330.1_Silent_p.K120K|PLCZ1_ENST00000541695.1_Silent_p.K201K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.K336K Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 338 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) ACCTCACCTTCTTTTTCTTGA 0.308000 7 39 0 0 1 0 0 E2F7 144455 broad.mit.edu 37 12 77417884 77417884 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:77417884G>A ENST00000322886.7 - 13 2882 c.2647C>T c.(2647-2649)Cct>Tct p.P883S E2F7_ENST00000416496.2_3'UTR NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 883 cell cycle transcription factor complex DNA binding|identical protein binding central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 TTCAGGACAGGGTCTCCAAGG 0.532000 10 100 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10434961 10434961 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:10434961G>A ENST00000245503.5 - 22 3070 c.2686C>T c.(2686-2688)Caa>Taa p.Q896* MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q896*|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 896 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCCTGAACTTGGAGCTGCAAG 0.438000 18 56 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138644168 138644168 + Missense_Mutation SNP G G A rs137852267 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:138644168G>A ENST00000218099.2 + 8 1331 c.1324G>A c.(1324-1326)Gga>Aga p.G442R F9_ENST00000394090.2_Missense_Mutation_p.G404R NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 442 Peptidase S1. G -> E (in HEMB).|G -> R (in HEMB; severe; Angers). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AGGCAAATATGGAATATATAC 0.398000 5 55 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769547 15769547 + Missense_Mutation SNP C C T rs141482165 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:15769547C>T ENST00000221307.7 + 12 1373 c.1325C>T c.(1324-1326)cCc>cTc p.P442L CYP4F3_ENST00000591058.1_Missense_Mutation_p.P442L|CYP4F3_ENST00000585846.1_Missense_Mutation_p.P442L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P442L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 442 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GTCTATGACCCCTTTCGCTTT 0.587000 27 138 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767606 31767606 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:31767606G>A ENST00000240587.4 - 2 3420 c.3093C>T c.(3091-3093)tcC>tcT p.S1031S NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1031 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCTCGGGGGAGGACGTCACCA 0.493000 7 40 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468343 35468343 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:35468343C>T ENST00000381151.3 + 2 1358 c.846C>T c.(844-846)atC>atT p.I282I MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 282 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 ACCAAGTCATCGTGCAGAGGG 0.483000 15 75 0 0 1 0 0 TPSG1 25823 broad.mit.edu 37 16 1271997 1271997 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:1271997C>T ENST00000234798.4 - 6 761 c.757G>A c.(757-759)Gga>Aga p.G253R NM_012467.3 NP_036599.3 Q9NRR2 TRYG1_HUMAN tryptase gamma 1 253 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity liver(1)|lung(2)|skin(1) 4 Hepatocellular(780;0.00369) GTGTAGACTCCCGGCCTGTTG 0.687000 5 62 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089035 9089035 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9089035G>A ENST00000397910.4 - 1 2983 c.2780C>T c.(2779-2781)tCa>tTa p.S927L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 927 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 GTTTGTAACTGAGGTACTGCT 0.493000 11 46 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892255 2892255 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr18:2892255G>A ENST00000254528.3 + 4 2289 c.2130G>A c.(2128-2130)gaG>gaA p.E710E NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 710 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CTCATATGGAGAAAACTTGCA 0.547000 16 83 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211055 59211055 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:59211055C>T ENST00000302030.2 + 1 439 c.414C>T c.(412-414)atC>atT p.I138I NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 ACCCCACTATCATGACCCAGG 0.542000 44 226 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322440 55322440 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55322440C>T ENST00000314644.2 + 1 658 c.658C>T c.(658-660)Ccc>Tcc p.P220S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTCCAGCTTCCCTTTTGTGG 0.478000 HNSCC(20;0.049) 3 41 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174856 51174856 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:51174856C>T ENST00000440970.1 - 2 1417 c.986G>A c.(985-987)aGa>aAa p.R329K SALL1_ENST00000251020.4_Missense_Mutation_p.R426K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 426 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) CTTGCTTTTTCTTTGCTGGGC 0.507000 6 105 0 0 1 0 0 CTRC 11330 broad.mit.edu 37 1 15770004 15770004 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:15770004C>T ENST00000375949.4 + 5 473 c.447C>T c.(445-447)ctC>ctT p.L149L CTRC_ENST00000483406.1_3'UTR|CTRC_ENST00000375943.2_3'UTR NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 149 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTCCCTGCTCCCCAAGGACT 0.582000 34 208 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50744693 50744693 + Missense_Mutation SNP G G A rs104895424 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:50744693G>A ENST00000300589.2 + 4 976 c.871G>A c.(871-873)Gat>Aat p.D291N NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 291 D -> N (associated with Crohn disease). activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CCTCAATGACGATGCGGACAC 0.662000 4 21 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177632734 177632734 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr4:177632734G>A ENST00000280193.2 - 4 1038 c.623C>T c.(622-624)tCc>tTc p.S208F VEGFC_ENST00000507638.1_5'UTR NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 208 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GCATCGGCAGGAAGTGTGATT 0.393000 15 87 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566459 5566459 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:5566459C>T ENST00000322653.4 - 1 320 c.295G>A c.(295-297)Gaa>Aaa p.E99K HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E99K(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AATGTGATTTCGCGAGCCCCT 0.468000 6 63 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161214825 161214825 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:161214825C>T ENST00000327928.4 + 1 230 c.230C>T c.(229-231)tCt>tTt p.S77F NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 77 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GCCTTGGATTCTGTCTTTGGC 0.473000 25 133 0 0 1 0 0 MIR7162 102466227 broad.mit.edu 37 15 62539735 62539735 + RNA SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr15:62539735C>T ENST00000570077.1 - 0 170 AGGTGTGCTTCCAGCTGTGCC 0.552000 5 24 0 0 1 0 0 C17orf67 339210 broad.mit.edu 37 17 54872508 54872508 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:54872508G>A ENST00000397861.2 - 7 1469 c.190C>T c.(190-192)Cgc>Tgc p.R64C C17orf67_ENST00000575658.1_Missense_Mutation_p.R88C|C17orf67_ENST00000397862.2_Missense_Mutation_p.R88C Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 88 extracellular region NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) TCCTCAGCGCGATGCTCCAGG 0.552000 4 37 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72291720 72291720 + Splice_Site SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr12:72291720C>T ENST00000550746.1 + 11 1297 c.1234_splice c.e11+1 p.I411_splice TBC1D15_ENST00000319106.8_Splice_Site_p.I402_splice|TBC1D15_ENST00000485960.2_Splice_Site_p.I394_splice|TBC1D15_ENST00000393309.3_Splice_Site_p.I165_splice|TBC1D15_ENST00000548679.1_3'UTR NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 411 Rab-GAP TBC. protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAAGTCTTATCGGTAATTTTT 0.353000 7 23 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95838133 95838133 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr9:95838133C>T ENST00000375472.3 + 2 192 c.156C>T c.(154-156)tcC>tcT p.S52S SUSD3_ENST00000375469.1_Silent_p.S39S NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 52 Sushi. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 ATGGTGCTTCCGTGGGGACCG 0.637000 11 56 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729305 37729305 + Silent SNP G G A rs146665678 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:37729305G>A ENST00000330843.4 - 4 3027 c.3015C>T c.(3013-3015)gtC>gtT p.V1005V RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1005 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) CAGGACAGGGGACTACCAAGC 0.552000 9 62 0 0 1 0 0 POLB 5423 broad.mit.edu 37 8 42207536 42207536 + Missense_Mutation SNP T T G TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr8:42207536T>G ENST00000265421.4 + 5 443 c.273T>G c.(271-273)gaT>gaG p.D91E POLB_ENST00000538005.1_Intron NM_002690.2 NP_002681.1 P06746 DPOLB_HUMAN polymerase (DNA directed), beta 91 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 16 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) TTCGGCAGGATGATACGAGTT 0.343000 DNA polymerases (catalytic subunits) 9 57 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103346790 103346790 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:103346790G>A ENST00000267273.6 - 1 64 c.59C>T c.(58-60)tCc>tTc p.S20F NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 20 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 GCCACCCGGGGAGCTGAGTCC 0.592000 7 28 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436940 248436940 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:248436940G>A ENST00000318021.2 - 1 198 c.177C>T c.(175-177)ttC>ttT p.F59F NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 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) GGCTCAGGAGGAAGTACATGG 0.532000 8 101 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416102 82416102 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:82416102G>A ENST00000370728.1 + 9 2073 c.1428G>A c.(1426-1428)ggG>ggA p.G476G LPHN2_ENST00000370727.1_Silent_p.G476G|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.G476G|LPHN2_ENST00000271029.4_Silent_p.G476G|LPHN2_ENST00000394879.1_Silent_p.G476G|LPHN2_ENST00000370730.1_Silent_p.G476G|LPHN2_ENST00000319517.6_Silent_p.G476G|LPHN2_ENST00000370717.2_Silent_p.G476G|LPHN2_ENST00000370725.1_Silent_p.G476G|LPHN2_ENST00000335786.5_Silent_p.G476G|LPHN2_ENST00000359929.3_Silent_p.G476G|LPHN2_ENST00000370721.1_Silent_p.G414G|LPHN2_ENST00000370723.1_Silent_p.G476G|LPHN2_ENST00000370715.1_Silent_p.G476G O95490 LPHN2_HUMAN latrophilin 2 476 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) ACTCCAAGGGGATAAAGTGGC 0.418000 20 43 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102492 22102492 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr14:22102492G>A ENST00000542433.1 - 1 604 c.507C>T c.(505-507)ttC>ttT p.F169F NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGGGCAGGCGGAAGGTCAAGG 0.552000 19 91 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038913 11038913 + RNA SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:11038913G>A ENST00000470054.1 - 0 1290 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTTGGGGAGGAAGACACATC 0.423000 18 365 0 0 1 0 0 TMEM99 147184 broad.mit.edu 37 17 38990992 38990992 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:38990992C>T ENST00000301665.3 + 3 528 c.224C>T c.(223-225)tCc>tTc p.S75F NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 75 integral to membrane cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) GAGTTATTTTCCTTTCTTCGC 0.483000 11 138 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165183001 165183001 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:165183001C>T ENST00000342310.3 - 5 928 c.546G>A c.(544-546)ggG>ggA p.G182G LMX1A_ENST00000294816.2_Silent_p.G182G|LMX1A_ENST00000367893.4_Silent_p.G182G NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGTTCCTTTCCCTGCCCCAT 0.493000 12 147 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9014198 9014198 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:9014198G>A ENST00000397910.4 - 32 38653 c.38450C>T c.(38449-38451)aCc>aTc p.T12817I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12819 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCTGATGGGTGAAACCTGC 0.522000 9 71 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 8 271 --- --- --- --- GBP3 2635 broad.mit.edu 37 1 89478895 89478895 + Frame_Shift_Del DEL A A - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:89478895delA ENST00000370481.4 - 6 1061 c.841delT c.(841-843)cafs p.S281fs NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 281 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATGCCTCCTGAAAGAGTTTTA 0.438 26 129 --- --- --- --- LOC100129620 100129620 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 3 5 --- --- --- --- FAM212B 55924 broad.mit.edu 37 1 112270123 112270123 + Frame_Shift_Del DEL T T - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr1:112270123delT ENST00000357260.5 - 2 542 c.361delA c.(361-363)ggfs p.R121fs FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Del_p.R106fs NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 121 cervix(1)|endometrium(1) 2 GGCTGTGTCCTGGGCAAGGGG 0.597 22 74 --- --- --- --- SEMA4C 54910 broad.mit.edu 37 2 97531235 97531235 + Frame_Shift_Del DEL C C - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr2:97531235delC ENST00000305476.5 - 6 592 c.460delG c.(460-462)atfs p.D154fs NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 154 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CCCTTCCCATCTTCAAACTCT 0.572 13 58 --- --- --- --- CDV3 55573 broad.mit.edu 37 3 133292940 133292942 + In_Frame_Del DEL AAG AAG - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr3:133292940_133292942delAAG ENST00000264993.3 + 1 367_369 c.52_54delAAG c.(52-54)del p.K22del CDV3_ENST00000431519.2_In_Frame_Del_p.K22del NM_001134422.1|NM_017548.4 NP_001127894.1|NP_060018.1 Q9UKY7 CDV3_HUMAN CDV3 homolog (mouse) 22 Poly-Lys. cell proliferation cytoplasm kidney(3)|lung(1)|prostate(1) 5 CAAGAGGGACAAGAAGAAGAAGA 0.744 3 4 --- --- --- --- TFAP2A 7020 broad.mit.edu 37 6 10400698 10400699 + Frame_Shift_Ins INS - - T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr6:10400698_10400699insT ENST00000379613.3 - 6 1269_1270 c.1013_1014insA c.(1012-1014)aatfs p.N338fs TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.N336fs|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.N332fs|TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.N330fs|TFAP2A_ENST00000482890.1_Frame_Shift_Ins_p.N336fs P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 336 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) CCAGGAGCATGTTTTTTCTTGT 0.441 20 106 --- --- --- --- HIBADH 11112 broad.mit.edu 37 7 27672031 27672032 + Frame_Shift_Ins INS - - T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:27672031_27672032insT ENST00000265395.2 - 3 491_492 c.285_286insA c.(283-288)aactgafs p.N*95fs NM_152740.3 NP_689953.1 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase 95 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1) 12 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) ATTCTGTCAGCTTTTTCAGCAA 0.361 21 97 --- --- --- --- ANLN 54443 broad.mit.edu 37 7 36436028 36436028 + Splice_Site DEL G G - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:36436028delG ENST00000265748.2 + 2 393 c.172_splice c.e2+1 p.E58_splice ANLN_ENST00000396068.2_Splice_Site_p.E58_splice NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 58 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TGGTGGTGAAGGTAAAAGACT 0.433 7 69 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142481471 142481472 + RNA INS - - GCTTAA TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr7:142481471_142481472insGCTTAA ENST00000603901.1 + 0 454 NR_001296.3 CTCACCTCCAGGACACATTTCT 0.480 2 4 --- --- --- --- OR8H3 390152 broad.mit.edu 37 11 55890533 55890533 + Frame_Shift_Del DEL A A - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:55890533delA ENST00000313472.3 + 1 685 c.685delA c.(685-687)atfs p.N229fs NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CCTGAAAATTAATTCCACTTC 0.403 11 68 --- --- --- --- B3GAT1 27087 broad.mit.edu 37 11 134257463 134257464 + Frame_Shift_Ins INS - - T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr11:134257463_134257464insT ENST00000524765.1 - 2 4634_4635 c.90_91insA c.(88-93)gcccctfs p.AP30fs B3GAT1_ENST00000537389.1_Frame_Shift_Ins_p.AP43fs|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000312527.4_Frame_Shift_Ins_p.AP30fs|B3GAT1_ENST00000392580.1_Frame_Shift_Ins_p.AP30fs Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 30 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GCGAGCAGGGGTGCGAGGGTGC 0.619 10 42 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77672094 77672094 + Frame_Shift_Del DEL A A - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr13:77672094delA ENST00000407578.2 - 56 9461 c.9195delT c.(9193-9195)cafs p.H3065fs MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.H3027fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.H3027fs NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3027 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTATAGGAGCATGTTCTTTGG 0.368 12 65 --- --- --- --- BRD7 29117 broad.mit.edu 37 16 50367574 50367574 + Frame_Shift_Del DEL T T - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:50367574delT ENST00000394688.3 - 8 1081 c.922delA c.(922-924)gcfs p.S308fs BRD7_ENST00000394689.2_Frame_Shift_Del_p.S308fs Q9NPI1 BRD7_HUMAN bromodomain containing 7 308 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) AAATTATTGCTTTTAAACTTA 0.363 38 184 --- --- --- --- ZNF276 92822 broad.mit.edu 37 16 89799752 89799752 + Frame_Shift_Del DEL T T - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:89799752delT ENST00000289816.5 + 7 1299 c.987delT c.(985-987)tcfs p.S329fs ZNF276_ENST00000446326.2_Frame_Shift_Del_p.S190fs|ZNF276_ENST00000443381.2_Frame_Shift_Del_p.S404fs|ZNF276_ENST00000568064.1_Frame_Shift_Del_p.S312fs NM_152287.3 NP_689500.2 Q8N554 ZN276_HUMAN zinc finger protein 276 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCAAGAAGTCTGAAGAACCAA 0.473 12 137 --- --- --- --- SPIRE2 84501 broad.mit.edu 37 16 89895030 89895030 + Frame_Shift_Del DEL G G - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr16:89895030delG ENST00000378247.3 + 1 115 c.72delG c.(70-72)ctfs p.L24fs SPIRE2_ENST00000564878.1_Intron|SPIRE2_ENST00000563972.1_Frame_Shift_Del_p.L24fs|SPIRE2_ENST00000393062.2_Frame_Shift_Del_p.L24fs NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 24 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) AGCTGTCCCTGGAGGAGGTGC 0.801 OREG0006581|OREG0006582 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SPIRE2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 2 4 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60368374 60368374 + RNA DEL A A - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr17:60368374delA ENST00000602493.1 - 0 273 AGTAACAATTAAAAAAAAACT 0.289 3 6 --- --- --- --- PTPRS 5802 broad.mit.edu 37 19 5244193 5244193 + Frame_Shift_Del DEL G G - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:5244193delG ENST00000372412.4 - 11 1525 c.1292delC c.(1291-1293)cgfs p.P431fs PTPRS_ENST00000353284.2_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P426fs|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P430fs|PTPRS_ENST00000587303.1_Frame_Shift_Del_p.P430fs|PTPRS_ENST00000592099.1_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P417fs|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 430 Fibronectin type-III 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CACGTTCCGCGGCGCGCTGGC 0.701 14 82 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 8 178 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825852 9825853 + RNA INS - - A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chr21:9825852_9825853insA ENST00000581792.1 + 0 21_22 NR_037421.1 gcggcggtggtggggggagccg 0.837 2 4 --- --- --- --- ESX1 80712 broad.mit.edu 37 X 103494988 103494988 + Frame_Shift_Del DEL A A - TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb0af23c-51dc-4a2f-b3d1-3fcded031b52 8cdcb15c-ee52-44e5-bf0a-a553cbb6bc77 g.chrX:103494988delA ENST00000372588.4 - 4 1225 c.1142delT c.(1141-1143)ggfs p.V381fs NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 381 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 AGTGTGAGGCACATGTGACCT 0.612 13 39 --- --- --- ---