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 SAMD11 148398 broad.mit.edu 37 1 879452 879452 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:879452C>T uc001abw.1 + 14 2045 c.1965C>T c.(1963-1965)GCC>GCT p.A655A SAMD11_uc001abx.1_Silent_p.A518A NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 655 nucleus 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGCCCTTGCCGGTCAAACTT 0.672000 AGRN 375790 broad.mit.edu 37 1 980635 980635 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:980635C>T uc001ack.1 + 13 2399 c.2349C>T c.(2347-2349)GGC>GGT p.G783G NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 783 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAGCCCGGGGCGTGGGCCTGG 0.711000 ATAD3C 219293 broad.mit.edu 37 1 1397981 1397981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:1397981C>T uc001aft.2 + 11 1977 c.982C>T c.(982-984)CGT>TGT p.R328C NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C 328 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;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) CTTCCCCAGGCGTCTGAAGCT 0.637000 PRDM16 63976 broad.mit.edu 37 1 3322154 3322154 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:3322154C>T uc001akf.2 + 8 1208 c.1128C>T c.(1126-1128)GCC>GCT p.A376A PRDM16_uc001akc.2_Silent_p.A376A|PRDM16_uc001akd.2_Silent_p.A376A|PRDM16_uc001ake.2_Silent_p.A376A|PRDM16_uc009vlh.2_Silent_p.A77A NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 376 C2H2-type 5. 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|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 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) AGACCTTCGCCACGTCCTCCG 0.677000 T EVI1 MDS|AML GPR153 387509 broad.mit.edu 37 1 6314182 6314182 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:6314182C>T uc001amp.1 - 3 642 c.382G>A c.(382-384)GTG>ATG p.V128M NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 128 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) ACTGTGTGCACCGCCTGCTTC 0.632000 RERE 473 broad.mit.edu 37 1 8419854 8419854 + Silent SNP T T C rs149634880 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:8419854T>C uc001ape.2 - 20 4398 c.3588A>G c.(3586-3588)CGA>CGG p.R1196R RERE_uc001apf.2_Silent_p.R1196R|RERE_uc001apd.2_Silent_p.R642R NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1196 Arg/Glu-rich (mixed charge).|Potential. 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 ovary(1)|central_nervous_system(1) 2 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) gctcccgctctcgctcccgct 0.537000 TMEM201 199953 broad.mit.edu 37 1 9655959 9655959 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:9655959C>T uc001apz.2 + 2 137 c.125C>T c.(124-126)ACG>ATG p.T42M TMEM201_uc001apy.2_Missense_Mutation_p.T42M NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN transmembrane protein 201 isoform 1 42 integral to membrane|nuclear inner membrane 0 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) ATGAAGCCAACGCACACGATG 0.627000 MTOR 2475 broad.mit.edu 37 1 11184566 11184566 + Silent SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:11184566C>G uc001asd.2 - 47 6772 c.6651G>C c.(6649-6651)CGG>CGC p.R2217R MTOR_uc001asc.2_Silent_p.R422R NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2217 PI3K/PI4K. 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 central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TGAGGTTTTTCCGAAGAGATG 0.433000 MFN2 9927 broad.mit.edu 37 1 12052744 12052744 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:12052744G>T uc001atn.3 + 4 761 c.308G>T c.(307-309)GGC>GTC p.G103V MFN2_uc009vni.2_Missense_Mutation_p.G103V NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 103 Cytoplasmic (Potential).|GTP (Probable). blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) GCTTTTTTTGGCCGGTAAGTC 0.532000 VPS13D 55187 broad.mit.edu 37 1 12328778 12328778 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:12328778G>A uc001atv.2 + 16 1958 c.1817G>A c.(1816-1818)GGC>GAC p.G606D VPS13D_uc001atw.2_Missense_Mutation_p.G606D NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 606 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GATCCAGATGGCCCCGTTTTT 0.463000 KAZ 23254 broad.mit.edu 37 1 15370596 15370596 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:15370596C>T uc001avm.3 + 4 948 c.667C>T c.(667-669)CGC>TGC p.R223C KAZ_uc009vog.1_Missense_Mutation_p.R223C|KAZ_uc010obj.1_Missense_Mutation_p.R223C|KAZ_uc001avo.2_Missense_Mutation_p.R217C|KAZ_uc001avp.2_Missense_Mutation_p.R129C|KAZ_uc001avq.2_Missense_Mutation_p.R129C|KAZ_uc001avr.2_Missense_Mutation_p.R126C NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 223 Interaction with PPL.|Potential. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CACGGCACTGCGCTCCCAGCT 0.657000 FBLIM1 54751 broad.mit.edu 37 1 16091512 16091512 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:16091512T>C uc001axd.1 + 4 477 c.34T>C c.(34-36)TCT>CCT p.S12P FBLIM1_uc001axe.1_Missense_Mutation_p.S12P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S12P|FBLIM1_uc001axh.1_Missense_Mutation_p.S12P|FBLIM1_uc001axi.1_Missense_Mutation_p.S12P NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 12 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 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) GGTGGCATCGTCTGTCTTTAT 0.647000 SPEN 23013 broad.mit.edu 37 1 16265849 16265849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:16265849G>A uc001axk.1 + 15 11126 c.10922G>A c.(10921-10923)CGC>CAC p.R3641H SPEN_uc010obp.1_Missense_Mutation_p.R3600H NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3641 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 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) CACCTGTCCCGCCTGGCCCCT 0.567000 ARHGEF10L 55160 broad.mit.edu 37 1 18014124 18014124 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:18014124G>A uc001ban.2 + 27 3225 c.3066G>A c.(3064-3066)GCG>GCA p.A1022A ARHGEF10L_uc009vpe.1_Silent_p.A983A|ARHGEF10L_uc001bao.2_Silent_p.A983A|ARHGEF10L_uc001bap.2_Silent_p.A978A|ARHGEF10L_uc001baq.2_Silent_p.A783A|ARHGEF10L_uc010ocs.1_Silent_p.A795A|ARHGEF10L_uc001bar.2_Silent_p.A725A|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 1022 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TGGTGAAGGCGGGCAGCGGCG 0.617000 PAX7 5081 broad.mit.edu 37 1 19062291 19062291 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:19062291G>A uc001bay.2 + 8 1919 c.1321G>A c.(1321-1323)GCC>ACC p.A441T PAX7_uc001baz.2_Missense_Mutation_p.A439T|PAX7_uc010oct.1_Missense_Mutation_p.A441T NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 441 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) CACCTCCCAGGCCTACTGCCC 0.687000 T FOXO1A alveolar rhabdomyosarcoma UBR4 23352 broad.mit.edu 37 1 19404515 19404515 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:19404515G>A uc001bbi.2 - 104 15283 c.15279C>T c.(15277-15279)TCC>TCT p.S5093S UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 5093 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 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) AAAAGAGAAGGGAAGAACGGT 0.468000 KIF17 57576 broad.mit.edu 37 1 20998683 20998683 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:20998683C>T uc001bdr.3 - 12 2588 c.2470G>A c.(2470-2472)GCA>ACA p.A824T KIF17_uc001bdp.3_Missense_Mutation_p.A102T|KIF17_uc001bdq.3_Missense_Mutation_p.A102T|KIF17_uc009vpx.2_Missense_Mutation_p.A194T|KIF17_uc001bds.3_Missense_Mutation_p.A824T NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 824 Potential. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) ACCTCTGCTGCCCGAAGCTGA 0.557000 RAP1GAP 5909 broad.mit.edu 37 1 21929337 21929337 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:21929337C>T uc001bex.2 - 19 1756 c.1498G>A c.(1498-1500)GCC>ACC p.A500T RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 500 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) ATGCCAATGGCGCTGCTGCGG 0.642000 GRHL3 57822 broad.mit.edu 37 1 24663276 24663276 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:24663276C>T uc001biy.2 + 4 632 c.586C>T c.(586-588)CGC>TGC p.R196C GRHL3_uc001bix.2_Missense_Mutation_p.R191C|GRHL3_uc001biz.2_Missense_Mutation_p.R98C NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 191 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GCCCACACAGCGCTGGCAGCC 0.537000 SRRM1 10250 broad.mit.edu 37 1 24995891 24995891 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:24995891G>A uc001bjm.2 + 14 2241 c.2017G>A c.(2017-2019)GCC>ACC p.A673T SRRM1_uc010oel.1_Missense_Mutation_p.A685T|SRRM1_uc009vrh.1_Missense_Mutation_p.A646T|SRRM1_uc009vri.1_Missense_Mutation_p.A602T NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 673 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TACCCGGGAGGCCCGATCACC 0.572000 SLC9A1 6548 broad.mit.edu 37 1 27436018 27436018 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:27436018G>A uc001bnm.2 - 3 1690 c.1064C>T c.(1063-1065)GCG>GTG p.A355V SLC9A1_uc010ofk.1_Missense_Mutation_p.A16V|SLC9A1_uc001bnn.2_Missense_Mutation_p.A355V NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 355 Helical; Name=M9; (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GCAGACTCACGCCATGATGCC 0.637000 WDTC1 23038 broad.mit.edu 37 1 27614178 27614178 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:27614178C>G uc009vst.2 + 6 840 c.305C>G c.(304-306)GCT>GGT p.A102G WDTC1_uc001bno.2_Missense_Mutation_p.A102G|WDTC1_uc001bnp.1_RNA NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 102 WD 2. protein binding ovary(1)|central_nervous_system(1) 2 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) CTGCCTCACGCTGGGGACCGC 0.542000 RNF19B 127544 broad.mit.edu 37 1 33402626 33402626 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:33402626A>G uc010oho.1 - 9 1980 c.1980T>C c.(1978-1980)CCT>CCC p.P660P RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P659P NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 660 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGATGCTTTCAGGCTGGGCCA 0.582000 CSMD2 114784 broad.mit.edu 37 1 34076667 34076667 + Missense_Mutation SNP C C T rs142970674 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:34076667C>T uc001bxn.1 - 41 6226 c.6197G>A c.(6196-6198)CGG>CAG p.R2066Q CSMD2_uc001bxm.1_Missense_Mutation_p.R2106Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R979Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2066 CUB 12.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAATCCTGGCCGATTCTGGGA 0.572000 TFAP2E 339488 broad.mit.edu 37 1 36040586 36040586 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:36040586T>A uc010ohy.1 + 3 755 c.547T>A c.(547-549)TCC>ACC p.S183T PSMB2_uc001bzd.1_Intron NM_178548 NP_848643 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating 183 nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CCTAGACCAGTCCGTGATCAA 0.592000 OSCP1 127700 broad.mit.edu 37 1 36915870 36915870 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:36915870T>G uc001cap.2 - 1 183 c.101A>C c.(100-102)AAG>ACG p.K34T OSCP1_uc001caq.2_Missense_Mutation_p.K34T|OSCP1_uc001car.2_Missense_Mutation_p.K34T NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 34 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTTGCGGGCCTTGTCTCCCGG 0.662000 OREG0013369 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RHBDL2 54933 broad.mit.edu 37 1 39358878 39358878 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:39358878G>T uc001ccu.1 - 6 856 c.628C>A c.(628-630)CCT>ACT p.P210T RHBDL2_uc010oin.1_Missense_Mutation_p.P210T|RHBDL2_uc010oio.1_Missense_Mutation_p.P290T NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 210 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) CCAAAGGCAGGAATCATTTCT 0.274000 MACF1 23499 broad.mit.edu 37 1 39823348 39823348 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:39823348G>A uc010oiu.1 + 9 7177 c.7046G>A c.(7045-7047)AGC>AAC p.S2349N MACF1_uc010ois.1_Missense_Mutation_p.S1847N|MACF1_uc001cda.1_Missense_Mutation_p.S1755N|MACF1_uc001cdc.1_Missense_Mutation_p.S934N|MACF1_uc001cdb.1_Missense_Mutation_p.S934N NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3914 Spectrin 1. 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 ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 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) GGAGGCAGCAGCCCCGAGACC 0.493000 MACF1 23499 broad.mit.edu 37 1 39919406 39919406 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:39919406C>T uc010oiu.1 + 53 16230 c.16099C>T c.(16099-16101)CGA>TGA p.R5367* MACF1_uc010ois.1_Nonsense_Mutation_p.R4865* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 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) AGAAGAAAAGCGAGTGGACGT 0.428000 DEM1 64789 broad.mit.edu 37 1 40980785 40980785 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:40980785G>A uc001cfp.2 + 3 774 c.569G>A c.(568-570)GGG>GAG p.G190E DEM1_uc001cfq.2_Missense_Mutation_p.G190E|DEM1_uc001cfr.2_Missense_Mutation_p.G190E|DEM1_uc001cfs.2_Missense_Mutation_p.G190E NM_022774 NP_073611 Q9H790 EXO5_HUMAN defects in morphology 1 homolog 190 DNA binding|exonuclease activity 0 ACAGCCAAGGGGGAACTGGAG 0.507000 HIVEP3 59269 broad.mit.edu 37 1 41979370 41979370 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:41979370G>T uc001cgz.3 - 8 6735 c.5522C>A c.(5521-5523)GCT>GAT p.A1841D HIVEP3_uc001cha.3_Missense_Mutation_p.A1841D|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1841 Acidic 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCCTCCACAGCCTCTGAACC 0.587000 ST3GAL3 6487 broad.mit.edu 37 1 44303981 44303981 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:44303981C>T uc001ckc.2 + 5 477 c.300C>T c.(298-300)CCC>CCT p.P100P ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.P115P|ST3GAL3_uc001cka.2_Silent_p.P84P|ST3GAL3_uc001ckb.2_Silent_p.P169P|ST3GAL3_uc001ckd.2_Silent_p.P154P|ST3GAL3_uc001cke.2_Silent_p.P84P|ST3GAL3_uc001ckf.2_Silent_p.P138P|ST3GAL3_uc001ckg.2_Silent_p.P100P|ST3GAL3_uc001ckh.2_Silent_p.P115P|ST3GAL3_uc001cki.2_Silent_p.P100P|ST3GAL3_uc009vwv.2_Silent_p.P100P|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.P6P|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.P99P|ST3GAL3_uc001ckl.2_Silent_p.P100P|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.P99P|ST3GAL3_uc001cko.2_Silent_p.P84P|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.P84P|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.P84P NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 100 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CCATCTTCCCCCGGTAAGTGC 0.547000 POMGNT1 55624 broad.mit.edu 37 1 46661685 46661685 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:46661685G>A uc001cpe.2 - 5 583 c.419C>T c.(418-420)ACG>ATG p.T140M POMGNT1_uc010olx.1_Missense_Mutation_p.T118M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Translation_Start_Site|POMGNT1_uc001cpg.2_Missense_Mutation_p.T140M|POMGNT1_uc001cpf.2_Translation_Start_Site|POMGNT1_uc001cpj.2_Missense_Mutation_p.T124M NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 140 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GAAACTCACCGTGGCCTGGTT 0.592000 CYP4A11 1579 broad.mit.edu 37 1 47401267 47401267 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:47401267T>C uc001cqp.3 - 5 614 c.563A>G c.(562-564)CAC>CGC p.H188R CYP4A11_uc001cqq.2_Missense_Mutation_p.H188R|CYP4A11_uc010omm.1_RNA NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 188 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) CAAGGAGACGTGCTGAAAGAC 0.562000 CYP4X1 260293 broad.mit.edu 37 1 47512186 47512186 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:47512186C>T uc001cqt.2 + 9 1371 c.1121C>T c.(1120-1122)ACG>ATG p.T374M CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 374 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 ATCAAGGAGACGTGCCGATTG 0.493000 ECHDC2 55268 broad.mit.edu 37 1 53364883 53364883 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:53364883A>G uc001cup.3 - 8 962 c.716T>C c.(715-717)GTG>GCG p.V239A ECHDC2_uc001cun.2_Missense_Mutation_p.V162A|ECHDC2_uc001cuo.3_Missense_Mutation_p.V208A|ECHDC2_uc010onk.1_Missense_Mutation_p.V193A NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 239 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 GCCCAGCCGCACGGCAATGGG 0.547000 ECHDC2 55268 broad.mit.edu 37 1 53377251 53377251 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:53377251G>A uc001cup.3 - 3 510 c.264C>T c.(262-264)GGC>GGT p.G88G ECHDC2_uc001cun.2_Silent_p.G42G|ECHDC2_uc001cuo.3_Silent_p.G88G|ECHDC2_uc010onk.1_Silent_p.G42G|ECHDC2_uc010onl.1_Silent_p.G42G|ECHDC2_uc010onm.1_Silent_p.G42G|ECHDC2_uc010onn.1_Silent_p.G42G NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 88 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 CACAGAACACGCCCTTCACTC 0.592000 C1orf177 163747 broad.mit.edu 37 1 55277501 55277501 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:55277501A>C uc001cyb.3 + 5 569 c.515A>C c.(514-516)AAG>ACG p.K172T C1orf177_uc001cya.3_Missense_Mutation_p.K172T NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 172 0 TATGGGGAGAAGGGTAACCCA 0.582000 PCSK9 255738 broad.mit.edu 37 1 55512210 55512210 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:55512210C>A uc001cyf.1 + 3 705 c.414C>A c.(412-414)CCC>CCA p.P138P PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 138 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 TGAAGTTGCCCCATGTCGACT 0.582000 PRKAA2 5563 broad.mit.edu 37 1 57158050 57158050 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:57158050G>T uc001cyk.3 + 4 421 c.350G>T c.(349-351)AGG>ATG p.R117M NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 117 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 ATGGAAGCCAGGCGGCTCTTT 0.353000 DAB1 1600 broad.mit.edu 37 1 57489218 57489218 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:57489218G>A uc001cys.1 - 13 1555 c.881C>T c.(880-882)GCT>GTT p.A294V DAB1_uc001cyt.1_Missense_Mutation_p.A292V|DAB1_uc001cyq.1_Missense_Mutation_p.A292V|DAB1_uc001cyr.1_Missense_Mutation_p.A208V|DAB1_uc009vzw.1_Missense_Mutation_p.A276V|DAB1_uc009vzx.1_Missense_Mutation_p.A294V NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 327 cell differentiation|nervous system development skin(2)|ovary(1) 3 GGGTACAGCAGCAGTGCCGAA 0.507000 PDE4B 5142 broad.mit.edu 37 1 66833502 66833502 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:66833502G>A uc001dcn.2 + 14 1699 c.1508G>A c.(1507-1509)CGT>CAT p.R503H PDE4B_uc009war.2_Missense_Mutation_p.R411H|PDE4B_uc001dco.2_Missense_Mutation_p.R503H|PDE4B_uc001dcp.2_Missense_Mutation_p.R488H|PDE4B_uc001dcq.2_Missense_Mutation_p.R331H|PDE4B_uc009was.2_Missense_Mutation_p.R270H NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 503 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) AAGAAGCAGCGTCAGACACTC 0.408000 WDR78 79819 broad.mit.edu 37 1 67306239 67306239 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:67306239G>A uc001dcx.2 - 9 1463 c.1407C>T c.(1405-1407)CCC>CCT p.P469P WDR78_uc001dcy.2_Silent_p.P469P|WDR78_uc009waw.2_Silent_p.P215P|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 469 ovary(2) 2 CCAAGTTGGCGGGTATTGTTG 0.403000 FPGT 8790 broad.mit.edu 37 1 74670742 74670742 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:74670742A>G uc001dgb.1 + 4 1048 c.1011A>G c.(1009-1011)ATA>ATG p.I337M TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 337 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 GGCAGAGAATATTTCATCTTC 0.358000 TNNI3K 51086 broad.mit.edu 37 1 74835236 74835236 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:74835236G>A uc001dgf.1 + 16 1685 c.1634G>A c.(1633-1635)GGT>GAT p.G545D TNNI3K_uc001dgc.1_Missense_Mutation_p.G646D|TNNI3K_uc001dgd.2_Missense_Mutation_p.G646D|TNNI3K_uc001dge.1_Missense_Mutation_p.G646D NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 545 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ATATCAGGGGGTTCTCTGTTC 0.448000 ABCA4 24 broad.mit.edu 37 1 94564484 94564484 + Missense_Mutation SNP G G A rs61750200 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:94564484G>A uc001dqh.2 - 6 738 c.634C>T c.(634-636)CGC>TGC p.R212C ABCA4_uc010otn.1_Missense_Mutation_p.R212C NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 212 Extracellular. R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 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) ATGATGAAGCGCTCCAGGAGG 0.602000 SLC35A3 23443 broad.mit.edu 37 1 100483314 100483314 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:100483314C>T uc001dsp.1 + 7 1027 c.830C>T c.(829-831)TCG>TTG p.S277L SLC35A3_uc001dsq.1_Missense_Mutation_p.S277L|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.S319L|SLC35A3_uc001dss.1_Missense_Mutation_p.S196L NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 277 Helical; (Potential). UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) ACCTCTTTATCGATAATATTA 0.294000 CELSR2 1952 broad.mit.edu 37 1 109811843 109811843 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:109811843G>A uc001dxa.3 + 20 6804 c.6743G>A c.(6742-6744)AGC>AAC p.S2248N NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2248 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTGTGGCCAGCGTCATCATC 0.672000 CYB561D1 284613 broad.mit.edu 37 1 110038475 110038475 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:110038475C>T uc010ovn.1 + 3 345 c.284C>T c.(283-285)GCA>GTA p.A95V CYB561D1_uc010ovl.1_Missense_Mutation_p.A38V|CYB561D1_uc010ovm.1_Missense_Mutation_p.A37V|CYB561D1_uc001dxu.2_Nonsense_Mutation_p.Q130*|CYB561D1_uc001dxw.2_3'UTR|CYB561D1_uc010ovo.1_Missense_Mutation_p.A117V|CYB561D1_uc009wfd.2_Missense_Mutation_p.A44V|CYB561D1_uc010ovp.1_Missense_Mutation_p.A29V NM_182580 NP_872386 Q8N8Q1 C56D1_HUMAN cytochrome b-561 domain containing 1 isoform 2 95 Cytochrome b561.|Helical; (Potential). electron transport chain|transport integral to membrane metal ion binding 0 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CTCCACTGGGCAGGGCAGACC 0.597000 KCNA3 3738 broad.mit.edu 37 1 111216271 111216271 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:111216271G>A uc001dzv.1 - 1 1385 c.1161C>T c.(1159-1161)CTC>CTT p.L387L NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 387 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 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) GCGTTTGCCCGAGGATCTGCA 0.587000 WNT2B 7482 broad.mit.edu 37 1 113059876 113059876 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:113059876C>A uc001ecb.2 + 4 1330 c.815C>A c.(814-816)GCT>GAT p.A272D WNT2B_uc001eca.2_Missense_Mutation_p.A253D|WNT2B_uc009wgg.2_Missense_Mutation_p.A180D NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 272 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity p.A272S(1) ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) 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) TATGATGGGGCTGTGCAGGTG 0.597000 MOV10 4343 broad.mit.edu 37 1 113232051 113232051 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:113232051A>G uc001eck.2 + 4 626 c.356A>G c.(355-357)CAT>CGT p.H119R MOV10_uc001ecl.2_Missense_Mutation_p.H119R|MOV10_uc001ecn.2_Missense_Mutation_p.H119R|MOV10_uc001ecm.2_Missense_Mutation_p.H59R|MOV10_uc009wgj.1_Missense_Mutation_p.H59R NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 119 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GAGTATCTTCATGGGAAACAT 0.597000 HRNR 388697 broad.mit.edu 37 1 152188455 152188455 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:152188455A>G uc001ezt.1 - 3 5726 c.5650T>C c.(5650-5652)TAC>CAC p.Y1884H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1884 20. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTGAGTGTAACCAGAGGAC 0.552000 FLG 2312 broad.mit.edu 37 1 152283879 152283879 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:152283879A>G uc001ezu.1 - 3 3519 c.3483T>C c.(3481-3483)GGT>GGC p.G1161G uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1161 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGTCCTGACCCTCTTGGG 0.607000 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152329960 152329960 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:152329960T>C uc001ezw.3 - 3 375 c.302A>G c.(301-303)AAG>AGG p.K101R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 101 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGCCTATGCTTCTTTGACCC 0.428000 CRNN 49860 broad.mit.edu 37 1 152382638 152382638 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:152382638C>T uc001ezx.2 - 3 994 c.920G>A c.(919-921)AGC>AAC p.S307N NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 307 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTGGTGGCTGCTGTCCTG 0.622000 EFNA1 1942 broad.mit.edu 37 1 155103820 155103820 + Missense_Mutation SNP G G A rs144975407 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:155103820G>A uc001fhh.2 + 2 203 c.98G>A c.(97-99)CGG>CAG p.R33Q EFNA1_uc001fhi.2_Missense_Mutation_p.R33Q|EFNA1_uc009wpd.1_5'Flank NM_004428 NP_004419 P20827 EFNA1_HUMAN ephrin A1 isoform a precursor 33 angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading extracellular region|integral to plasma membrane ephrin receptor binding 0 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCAGGTTCCGGAATGAGGAC 0.522000 PKLR 5313 broad.mit.edu 37 1 155263247 155263247 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:155263247C>T uc001fkb.3 - 8 1290 c.1251G>A c.(1249-1251)GCG>GCA p.A417A RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A386A NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 417 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCATCTTCACCGCTTCCACAG 0.562000 FCRL3 115352 broad.mit.edu 37 1 157667456 157667456 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:157667456T>G uc001frb.2 - 5 844 c.552A>C c.(550-552)CAA>CAC p.Q184H FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q184H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q184H NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 184 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TACCTTGAACTTGGATATTTA 0.368000 CD1D 912 broad.mit.edu 37 1 158151478 158151478 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:158151478G>A uc001frr.2 + 3 794 c.295G>A c.(295-297)GTG>ATG p.V99M CD1D_uc009wsr.1_Missense_Mutation_p.V99M|CD1D_uc009wss.2_Missense_Mutation_p.V99M|CD1D_uc009wst.1_Translation_Start_Site NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 99 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CACCAGGGACGTGAAGGAATT 0.557000 CCDC19 25790 broad.mit.edu 37 1 159857704 159857704 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:159857704C>T uc001fui.2 - 5 533 c.515G>A c.(514-516)CGG>CAG p.R172Q CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R87Q|CCDC19_uc001ful.2_Missense_Mutation_p.R87Q|CCDC19_uc009wtc.1_Missense_Mutation_p.R172Q NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 172 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GTTCTGGGCCCGTTCCTTGGC 0.547000 ATP1A4 480 broad.mit.edu 37 1 160137172 160137172 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:160137172G>T uc001fve.3 + 10 1940 c.1461G>T c.(1459-1461)GAG>GAT p.E487D ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 487 Cytoplasmic (Potential). 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 ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGTGGCAGAGATTCCCTTTA 0.512000 SLAMF1 6504 broad.mit.edu 37 1 160607007 160607007 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:160607007C>T uc001fwl.3 - 2 735 c.389G>A c.(388-390)CGC>CAC p.R130H SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R130H NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 130 Extracellular (Potential). interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAGGCAAAAGCGCTGAACTGA 0.478000 USP21 27005 broad.mit.edu 37 1 161133376 161133376 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:161133376C>T uc010pke.1 + 8 1458 c.1081C>T c.(1081-1083)CGT>TGT p.R361C USP21_uc010pkc.1_Missense_Mutation_p.R361C|USP21_uc010pkd.1_Missense_Mutation_p.R361C|USP21_uc010pkf.1_Missense_Mutation_p.R361C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 361 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AATGTGGAAACGTTACCTGGA 0.532000 TOMM40L 84134 broad.mit.edu 37 1 161198233 161198233 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:161198233C>A uc001fzd.2 + 8 852 c.623C>A c.(622-624)GCT>GAT p.A208D TOMM40L_uc010pkl.1_Missense_Mutation_p.A174D|TOMM40L_uc009wue.2_Missense_Mutation_p.A90D|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A208D NM_032174 NP_115550 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 208 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CACTGGGTAGCTACATTGAAT 0.498000 HSPA6 3310 broad.mit.edu 37 1 161495324 161495324 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:161495324C>T uc001gap.2 + 2 1536 c.876C>T c.(874-876)GGC>GGT p.G292G HSPA6_uc001gaq.2_Silent_p.G292G NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 292 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TGTTCGAGGGCGTGGACTTCT 0.657000 DNM3 26052 broad.mit.edu 37 1 172002361 172002361 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:172002361G>A uc001gie.2 + 6 981 c.805G>A c.(805-807)GCT>ACT p.A269T DNM3_uc001gid.3_Missense_Mutation_p.A269T|DNM3_uc009wwb.2_Missense_Mutation_p.A269T|DNM3_uc001gif.2_Missense_Mutation_p.A269T NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 269 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CAGACATATCGCTGACCGAAT 0.448000 C1orf105 92346 broad.mit.edu 37 1 172431363 172431363 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:172431363T>G uc001gik.2 + 5 515 c.319T>G c.(319-321)TTT>GTT p.F107V NM_139240 NP_640333 O95561 CA105_HUMAN hypothetical protein LOC92346 107 skin(1) 1 AAAAGCATCCTTTGAGAATTG 0.358000 NPHS2 7827 broad.mit.edu 37 1 179526176 179526176 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:179526176C>T uc001gmq.3 - 5 809 c.724G>A c.(724-726)GCC>ACC p.A242T NPHS2_uc009wxi.2_Intron NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 242 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GCATCTTGGGCGATGCTCTTC 0.368000 CACNA1E 777 broad.mit.edu 37 1 181701981 181701981 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:181701981G>A uc001gow.2 + 20 2924 c.2759G>A c.(2758-2760)CGC>CAC p.R920H CACNA1E_uc009wxs.2_Missense_Mutation_p.R808H|CACNA1E_uc001gox.1_Missense_Mutation_p.R146H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 920 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AGCCAACGGCGCAGCCGGCAT 0.652000 TPR 7175 broad.mit.edu 37 1 186302450 186302450 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:186302450A>C uc001grv.2 - 37 5556 c.5259T>G c.(5257-5259)CCT>CCG p.P1753P NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1753 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GCTGGACATTAGGACTAGTAG 0.423000 T NTRK1 papillary thyroid F13B 2165 broad.mit.edu 37 1 197032103 197032103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:197032103C>T uc001gtt.1 - 2 193 c.149G>A c.(148-150)AGC>AAC p.S50N NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 50 Sushi 1. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTTGTCTATGCTCATTGGAAA 0.378000 DENND1B 163486 broad.mit.edu 37 1 197621390 197621390 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:197621390G>A uc001guf.3 - 7 760 c.422C>T c.(421-423)GCA>GTA p.A141V DENND1B_uc010ppe.1_Missense_Mutation_p.A141V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.A131V|DENND1B_uc001gug.3_5'UTR NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 141 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 AGGAGTATTTGCCTTTGGTAC 0.338000 PTPRC 5788 broad.mit.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:198711490A>C uc001gur.1 + 25 2865 c.2685A>C c.(2683-2685)CAA>CAC p.Q895H PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 895 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. Substrate (By similarity). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGATGGTTCAAGTAGAGGTAT 0.363000 TNNI1 7135 broad.mit.edu 37 1 201398381 201398381 + RNA SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:201398381C>T uc001gwo.1 - 2 c.190G>A P19237 TNNI1_HUMAN Homo sapiens mRNA for troponin I (TNNI1 gene), alternative termination. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 GGGGCCATTGCAGGACGCAGC 0.468000 ELF3 1999 broad.mit.edu 37 1 201983058 201983058 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:201983058T>A uc001gxg.3 + 7 4099 c.907T>A c.(907-909)TTC>ATC p.F303I ELF3_uc001gxi.3_Missense_Mutation_p.F303I|ELF3_uc001gxh.3_Missense_Mutation_p.F303I NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 303 ETS. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 TGAAGGCGTCTTCAAGTTCCT 0.587000 KDM5B 10765 broad.mit.edu 37 1 202702738 202702738 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:202702738G>A uc001gyf.2 - 23 3816 c.3700C>T c.(3700-3702)CCC>TCC p.P1234S KDM5B_uc009xag.2_Missense_Mutation_p.P1270S|KDM5B_uc001gyg.1_Missense_Mutation_p.P1076S NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1234 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GCGAGCAGGGGCAGAATTTTC 0.532000 ATP2B4 493 broad.mit.edu 37 1 203669950 203669950 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:203669950G>A uc001gzw.2 + 6 1684 c.800G>A c.(799-801)GGC>GAC p.G267D ATP2B4_uc001gzv.2_Missense_Mutation_p.G267D|ATP2B4_uc009xaq.2_Missense_Mutation_p.G267D NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 267 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGGTTCTGGCCGGATGGTG 0.458000 MDM4 4194 broad.mit.edu 37 1 204506617 204506617 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:204506617C>A uc001hba.2 + 6 565 c.403C>A c.(403-405)CAA>AAA p.Q135K MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Missense_Mutation_p.Q8K|MDM4_uc001hay.1_Missense_Mutation_p.Q135K|MDM4_uc001hbb.2_Missense_Mutation_p.Q8K|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 135 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) AAGTCAAGACCAACTGAAGGT 0.458000 A GBM|bladder|retinoblastoma LRRN2 10446 broad.mit.edu 37 1 204588433 204588433 + Missense_Mutation SNP C C T rs139753603 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:204588433C>T uc001hbe.1 - 3 1076 c.688G>A c.(688-690)GAC>AAC p.D230N MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.D230N|LRRN2_uc009xbf.1_Missense_Mutation_p.D230N|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 230 LRR 7.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) AGGGCATAGTCGGAGATCTCC 0.637000 SLC41A1 254428 broad.mit.edu 37 1 205764510 205764510 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:205764510C>T uc001hdh.1 - 9 2041 c.1169G>A c.(1168-1170)CGC>CAC p.R390H SLC41A1_uc001hdg.1_Missense_Mutation_p.R11H NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 390 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGGACAGCGGCGAGGAGCTTG 0.612000 AVPR1B 553 broad.mit.edu 37 1 206225358 206225358 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:206225358G>A uc001hds.2 + 1 1076 c.918G>A c.(916-918)TGG>TGA p.W306* NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 306 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) GGTCCGTGTGGGACAAGAATG 0.552000 PFKFB2 5208 broad.mit.edu 37 1 207240864 207240864 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:207240864T>C uc001hfg.2 + 9 762 c.653T>C c.(652-654)GTG>GCG p.V218A PFKFB2_uc010psc.1_Missense_Mutation_p.V120A|PFKFB2_uc001hfh.2_Missense_Mutation_p.V218A|PFKFB2_uc009xcc.2_Missense_Mutation_p.V176A|PFKFB2_uc010psd.1_Missense_Mutation_p.V32A NM_006212 NP_006203 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2, 218 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity ovary(1) 1 Prostate(682;0.19) TTCATCAAGGTGATAAACGTG 0.433000 C1orf58 148362 broad.mit.edu 37 1 222889118 222889118 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:222889118G>A uc001hnq.1 + 2 472 c.77G>A c.(76-78)GGC>GAC p.G26D AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.G26D|C1orf58_uc010puu.1_Missense_Mutation_p.G26D|C1orf58_uc010puv.1_Missense_Mutation_p.G26D NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 26 membrane 0 GBM - Glioblastoma multiforme(131;0.0667) GTAGTCACTGGCCCTTCTGCT 0.368000 C1orf58 148362 broad.mit.edu 37 1 222898880 222898880 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:222898880A>G uc001hnq.1 + 7 958 c.563A>G c.(562-564)CAG>CGG p.Q188R C1orf58_uc010put.1_Missense_Mutation_p.Q156R|C1orf58_uc010puu.1_Missense_Mutation_p.Q188R|C1orf58_uc010puv.1_Missense_Mutation_p.Q156R NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 188 BRO1. membrane 0 GBM - Glioblastoma multiforme(131;0.0667) ATTCAATGTCAGGCTGAAGCT 0.328000 DISP1 84976 broad.mit.edu 37 1 223177973 223177973 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:223177973C>T uc001hnu.1 + 8 3381 c.3234C>T c.(3232-3234)CGC>CGT p.R1078R NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1078 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CTCTGAGTCGCGTGGGCTCTG 0.592000 CNIH3 149111 broad.mit.edu 37 1 224922304 224922304 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:224922304C>T uc001hos.1 + 5 1049 c.351C>T c.(349-351)TAC>TAT p.Y117Y NM_152495 NP_689708 Q8TBE1 CNIH3_HUMAN cornichon homolog 3 117 Cytoplasmic (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane 0 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) AACTAGCCTACGACCCACCGG 0.517000 GJC2 57165 broad.mit.edu 37 1 228345675 228345675 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:228345675G>A uc001hsk.2 + 2 391 c.216G>A c.(214-216)GCG>GCA p.A72A NM_020435 NP_065168 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 72 Extracellular (Potential). cell death connexon complex|integral to membrane 0 Prostate(94;0.0405) ACGCCTTCGCGCCCCTGTCGC 0.657000 PCNXL2 80003 broad.mit.edu 37 1 233397834 233397834 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:233397834G>A uc001hvl.2 - 3 672 c.437C>T c.(436-438)TCC>TTC p.S146F PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 146 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TTGCCCTCTGGAGCTGCAGCG 0.483000 TARBP1 6894 broad.mit.edu 37 1 234569180 234569180 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:234569180A>T uc001hwd.2 - 14 2370 c.2370T>A c.(2368-2370)CAT>CAA p.H790Q NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 790 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TCTCTTGAAGATGCTGAATGG 0.378000 NID1 4811 broad.mit.edu 37 1 236189263 236189263 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:236189263G>A uc001hxo.2 - 8 2019 c.1917C>T c.(1915-1917)TTC>TTT p.F639F NID1_uc009xgd.2_Silent_p.F639F NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 639 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGTACAGGACGAACACGCTGT 0.602000 HEATR1 55127 broad.mit.edu 37 1 236766615 236766615 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:236766615C>T uc001hyd.1 - 3 329 c.204G>A c.(202-204)CCG>CCA p.P68P HEATR1_uc001hye.1_Silent_p.P68P NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 68 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GACTGAACAACGGTGCTTCAA 0.383000 FMN2 56776 broad.mit.edu 37 1 240555815 240555815 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:240555815A>C uc010pyd.1 + 15 5088 c.4863A>C c.(4861-4863)AAA>AAC p.K1621N FMN2_uc010pye.1_Missense_Mutation_p.K1625N|FMN2_uc010pyf.1_Missense_Mutation_p.K236N|FMN2_uc010pyg.1_Missense_Mutation_p.K217N NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1621 FH2. 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 ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTTCAGCCAAAATTGACCAAG 0.333000 EXO1 9156 broad.mit.edu 37 1 242035442 242035442 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:242035442T>C uc001hzh.2 + 12 1916 c.1376T>C c.(1375-1377)TTT>TCT p.F459S EXO1_uc001hzi.2_Missense_Mutation_p.F459S|EXO1_uc001hzj.2_Missense_Mutation_p.F459S|EXO1_uc009xgq.2_Missense_Mutation_p.F458S NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 459 Interaction with MLH1. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TCTGAAGTGTTTGTGCCTGAC 0.363000 Direct_reversal_of_damage|Editing_and_processing_nucleases KIF26B 55083 broad.mit.edu 37 1 245850169 245850169 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:245850169G>A uc001ibf.1 + 12 4324 c.3884G>A c.(3883-3885)TGC>TAC p.C1295Y KIF26B_uc001ibg.1_Missense_Mutation_p.C913Y|KIF26B_uc001ibh.1_Missense_Mutation_p.C537Y NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1295 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GAGCAGTCGTGCCACAGTTTC 0.612000 OR2W5 441932 broad.mit.edu 37 1 247654805 247654805 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:247654805G>A uc001icz.1 + 1 376 c.376G>A c.(376-378)GTC>ATC p.V126I NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTATGTGGCCGTCTGCCGGTC 0.587000 OR2G3 81469 broad.mit.edu 37 1 247769135 247769135 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:247769135T>G uc010pyz.1 + 1 248 c.248T>G c.(247-249)GTT>GGT p.V83G NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 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) CAGACCTTAGTTAACTTGCAA 0.463000 OR2L8 391190 broad.mit.edu 37 1 248112658 248112658 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:248112658T>C uc001idt.1 + 1 499 c.499T>C c.(499-501)TAT>CAT p.Y167H OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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) CCATATTCCTTATTGCCGATC 0.478000 OR2M5 127059 broad.mit.edu 37 1 248309379 248309379 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:248309379T>C uc010pze.1 + 1 930 c.930T>C c.(928-930)TGT>TGC p.C310C NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AGGGCAAGTGTGGAGAGTGAG 0.428000 OR2T33 391195 broad.mit.edu 37 1 248436684 248436684 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:248436684A>G uc010pzi.1 - 1 433 c.433T>C c.(433-435)TCG>CCG p.S145P NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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) AGCCAACACGACATGGTCATC 0.577000 LARP4B 23185 broad.mit.edu 37 10 909765 909765 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:909765C>T uc001ifs.1 - 4 389 c.348G>A c.(346-348)CCG>CCA p.P116P NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 116 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 CCGACTCCTGCGGGTCTGGCA 0.517000 AKR1C3 8644 broad.mit.edu 37 10 5141002 5141002 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:5141002G>T uc001ihr.2 + 4 561 c.378G>T c.(376-378)GAG>GAT p.E126D AKR1C3_uc010qap.1_Missense_Mutation_p.E103D|AKR1C3_uc001ihu.2_Missense_Mutation_p.E126D NM_003739 NP_003730 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 126 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity skin(1) 1 Dimethyl sulfoxide(DB01093)|NADH(DB00157) AGCCAGGTGAGGAACTTTCAC 0.428000 C10orf18 54906 broad.mit.edu 37 10 5800957 5800957 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:5800957T>C uc001iij.2 + 18 7617 c.6992_splice c.e18+2 p.R2331_splice C10orf18_uc001iik.2_Splice_Site_p.R1175_splice NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 ovary(1)|central_nervous_system(1) 2 AGATGAAAGGTAAGGACTTGC 0.448000 IL15RA 3601 broad.mit.edu 37 10 5995102 5995102 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:5995102T>G uc001iiv.2 - 7 842 c.760A>C c.(760-762)AGC>CGC p.S254R IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.S221R|IL15RA_uc001iiw.2_Missense_Mutation_p.S218R|IL15RA_uc001iix.2_Missense_Mutation_p.S185R|IL15RA_uc001iiy.2_Missense_Mutation_p.S102R NM_002189 NP_002180 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha isoform 1 254 Cytoplasmic (Potential). cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity 0 TCTCTGCTGCTGGTCCCCCAA 0.547000 PRPF18 8559 broad.mit.edu 37 10 13653641 13653641 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:13653641C>T uc001imp.2 + 6 685 c.537C>T c.(535-537)GGC>GGT p.G179G PRPF18_uc001imq.2_Intron NM_003675 NP_003666 Q99633 PRP18_HUMAN PRP18 pre-mRNA processing factor 18 homolog 179 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1) 1 TAGGGAAAGGCGATGATCATA 0.408000 DNAJC1 64215 broad.mit.edu 37 10 22048374 22048374 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:22048374G>A uc001irc.2 - 11 1608 c.1321C>T c.(1321-1323)CGG>TGG p.R441W DNAJC1_uc001ird.2_Missense_Mutation_p.R327W NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 441 Cytoplasmic (By similarity). negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding lung(1) 1 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) CTCCGAGGCCGGGCATCAGTG 0.657000 GPR158 57512 broad.mit.edu 37 10 25886854 25886854 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:25886854C>T uc001isj.2 + 11 2359 c.2299C>T c.(2299-2301)CGG>TGG p.R767W GPR158_uc001isk.2_Missense_Mutation_p.R142W NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 767 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GACAGTCAGCCGGCAGTGCTC 0.572000 ANKRD26 22852 broad.mit.edu 37 10 27324123 27324123 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:27324123C>T uc001ith.2 - 24 3425 c.3253G>A c.(3253-3255)GCC>ACC p.A1085T ANKRD26_uc001itg.2_Missense_Mutation_p.A772T|ANKRD26_uc009xku.1_Missense_Mutation_p.A1086T NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1085 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TCTCTGAGGGCATCTCTCGTG 0.358000 MASTL 84930 broad.mit.edu 37 10 27454412 27454412 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:27454412C>A uc001itm.2 + 6 1394 c.755C>A c.(754-756)CCT>CAT p.P252H MASTL_uc001itl.2_Missense_Mutation_p.P252H|MASTL_uc009xkw.1_Missense_Mutation_p.P252H|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 252 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CTCGTATGCCCTATGTCTGTA 0.318000 LYZL1 84569 broad.mit.edu 37 10 29581592 29581592 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:29581592A>G uc001iul.2 + 3 479 c.422A>G c.(421-423)CAT>CGT p.H141R NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 95 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) AACCACTGCCATGTCGCCTGC 0.547000 ZNF438 220929 broad.mit.edu 37 10 31134032 31134032 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:31134032G>A uc010qdz.1 - 8 2780 c.2345C>T c.(2344-2346)GCA>GTA p.A782V ZNF438_uc001ivn.2_Missense_Mutation_p.A733V|ZNF438_uc010qdy.1_Missense_Mutation_p.A772V|ZNF438_uc001ivo.3_Missense_Mutation_p.A346V|ZNF438_uc009xlg.2_Missense_Mutation_p.A782V|ZNF438_uc001ivp.3_Missense_Mutation_p.A772V|ZNF438_uc010qea.1_Missense_Mutation_p.A782V|ZNF438_uc010qeb.1_Missense_Mutation_p.A782V NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 782 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) CAGCATCTCTGCACAAAGCAG 0.542000 KIF5B 3799 broad.mit.edu 37 10 32324505 32324505 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:32324505A>G uc001iwe.3 - 10 1377 c.907T>C c.(907-909)TCT>CCT p.S303P NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 303 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) GATGATGGAGAGCAGCAAATT 0.338000 FRMPD2 143162 broad.mit.edu 37 10 49446167 49446167 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:49446167C>T uc001jgi.2 - 8 896 c.789_splice c.e8-1 p.R263_splice FRMPD2_uc001jgh.2_Splice_Site_p.R232_splice|FRMPD2_uc001jgj.2_Splice_Site_p.R241_splice NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TGGAAGAGCGCTGGCCAGGGG 0.627000 A1CF 29974 broad.mit.edu 37 10 52569700 52569700 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:52569700G>A uc001jjj.2 - 12 1775 c.1587C>T c.(1585-1587)GGC>GGT p.G529G A1CF_uc010qhn.1_Silent_p.G529G|A1CF_uc001jji.2_Silent_p.G521G|A1CF_uc001jjh.2_Silent_p.G529G|A1CF_uc010qho.1_Silent_p.G537G|A1CF_uc009xov.2_Silent_p.G521G NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 529 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TGGTGCCATCGCCTCCATCAG 0.468000 PRKG1 5592 broad.mit.edu 37 10 53227559 53227559 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:53227559T>C uc001jjm.2 + 3 704 c.510T>C c.(508-510)GCT>GCC p.A170A PRKG1_uc001jjn.2_Silent_p.A185A|PRKG1_uc001jjo.2_Silent_p.A185A|PRKG1_uc010qhp.1_Silent_p.A170A NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 170 cGMP 1. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GGGAATTGGCTATTCTTTACA 0.383000 DKK1 22943 broad.mit.edu 37 10 54074759 54074759 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:54074759G>A uc001jjr.2 + 2 474 c.320G>A c.(319-321)GGC>GAC p.G107D uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 107 DKK-type Cys-1. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 GGGGACGCAGGCGTGCAAATC 0.617000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BICC1 80114 broad.mit.edu 37 10 60553279 60553279 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:60553279G>T uc001jki.1 + 9 1083 c.1083G>T c.(1081-1083)AAG>AAT p.K361N BICC1_uc001jkj.1_Missense_Mutation_p.K2N NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 361 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 TTGATATGAAGGAAGAAATTG 0.358000 ANK3 288 broad.mit.edu 37 10 61815606 61815606 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:61815606T>C uc001jky.2 - 42 13067 c.12875A>G c.(12874-12876)CAT>CGT p.H4292R ANK3_uc001jkw.2_Missense_Mutation_p.H916R|ANK3_uc009xpa.2_Missense_Mutation_p.H916R|ANK3_uc001jkx.2_Missense_Mutation_p.H960R|ANK3_uc010qih.1_Missense_Mutation_p.H1783R|ANK3_uc001jkz.3_Missense_Mutation_p.H1776R|ANK3_uc001jkv.2_Missense_Mutation_p.H315R NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4292 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTCTTCAACATGACCAGATCC 0.398000 ANK3 288 broad.mit.edu 37 10 62023723 62023723 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:62023723G>A uc001jky.2 - 6 761 c.569C>T c.(568-570)TCG>TTG p.S190L ANK3_uc010qih.1_Missense_Mutation_p.S173L|ANK3_uc001jkz.3_Missense_Mutation_p.S184L|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 190 ANK 4. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TAGCAGGAGCGAAACGACTTG 0.517000 ZNF365 22891 broad.mit.edu 37 10 64136602 64136602 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:64136602C>T uc001jmc.2 + 2 965 c.650C>T c.(649-651)GCC>GTC p.A217V ZNF365_uc001jly.3_Missense_Mutation_p.A232V|ZNF365_uc001jmb.3_Missense_Mutation_p.A217V|ZNF365_uc001jlz.3_Missense_Mutation_p.A217V|ZNF365_uc001jma.3_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform C Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CGAGAGCGGGCCTTAAACAGA 0.512000 PBLD 64081 broad.mit.edu 37 10 70056045 70056045 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:70056045T>C uc001jns.1 - 4 464 c.261A>G c.(259-261)GCA>GCG p.A87A PBLD_uc001jnr.1_Silent_p.A54A|PBLD_uc001jnt.1_Silent_p.A87A|PBLD_uc001jnu.1_Silent_p.A87A|PBLD_uc001jnv.1_Intron NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 87 biosynthetic process isomerase activity skin(2)|ovary(1) 3 ACAGCACAGCTGCAGAAGCCA 0.418000 TSPAN15 23555 broad.mit.edu 37 10 71243561 71243561 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:71243561G>A uc001jpo.1 + 2 336 c.211G>A c.(211-213)GTC>ATC p.V71I NM_012339 NP_036471 O95858 TSN15_HUMAN transmembrane 4 superfamily member 15 71 Helical; (Potential). integral to plasma membrane|membrane fraction 0 CCTCCTGGGCGTCGTCATGTT 0.562000 TYSND1 219743 broad.mit.edu 37 10 71902509 71902509 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:71902509C>T uc001jqr.2 - 3 1552 c.1398G>A c.(1396-1398)ACG>ACA p.T466T TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 466 Serine protease. proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 GCATTACGGGCGTGCCATTCA 0.612000 POLR3A 11128 broad.mit.edu 37 10 79741970 79741970 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:79741970G>A uc001jzn.2 - 28 3795 c.3701C>T c.(3700-3702)GCA>GTA p.A1234V NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 1234 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GGCCATGACTGCCCGCAGGTT 0.562000 NRG3 10718 broad.mit.edu 37 10 84744984 84744984 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:84744984A>G uc001kco.2 + 9 1741 c.1714A>G c.(1714-1716)AGT>GGT p.S572G NRG3_uc010qlz.1_Missense_Mutation_p.S571G|NRG3_uc001kcp.2_Missense_Mutation_p.S375G|NRG3_uc001kcq.2_Missense_Mutation_p.S222G|NRG3_uc001kcr.2_Missense_Mutation_p.S246G NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 596 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CACAAGGGCCAGTTCTGTGCC 0.438000 WAPAL 23063 broad.mit.edu 37 10 88259864 88259864 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:88259864C>T uc001kdo.2 - 3 1578 c.1136G>A c.(1135-1137)CGC>CAC p.R379H WAPAL_uc001kdn.2_Missense_Mutation_p.R422H|WAPAL_uc009xsw.2_Missense_Mutation_p.R379H NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 379 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 ovary(1) 1 ATCCATGCTGCGTTCCATAGT 0.428000 CPEB3 22849 broad.mit.edu 37 10 93999718 93999718 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:93999718G>T uc001khw.1 - 2 563 c.390C>A c.(388-390)GTC>GTA p.V130V CPEB3_uc001khu.1_Silent_p.V130V|CPEB3_uc001khv.1_Silent_p.V130V|CPEB3_uc010qnn.1_Silent_p.V130V NM_014912 NP_055727 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding 130 Pro-rich. nucleotide binding|RNA binding 0 Colorectal(252;0.0869) TGGTCCCGTTGACTGGGGTGA 0.657000 TMEM20 159371 broad.mit.edu 37 10 95660776 95660776 + Silent SNP C C T rs148915546 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:95660776C>T uc001kjg.1 + 3 688 c.627C>T c.(625-627)TCC>TCT p.S209S TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.S208S|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.S192S|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 209 integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) TGTTTGGTTCCGACACTTCGG 0.448000 SORBS1 10580 broad.mit.edu 37 10 97101123 97101123 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:97101123T>C uc001kkp.2 - 26 2634 c.2589A>G c.(2587-2589)CCA>CCG p.P863P SORBS1_uc001kkk.2_Silent_p.P357P|SORBS1_uc001kkl.2_Silent_p.P465P|SORBS1_uc001kkn.2_Silent_p.P628P|SORBS1_uc001kkm.2_Silent_p.P663P|SORBS1_uc001kko.2_Silent_p.P885P|SORBS1_uc001kkq.2_Silent_p.P714P|SORBS1_uc001kkr.2_Silent_p.P569P|SORBS1_uc001kks.2_Silent_p.P513P|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.P610P|SORBS1_uc001kkv.2_Silent_p.P645P|SORBS1_uc001kkw.2_Silent_p.P817P|SORBS1_uc010qoe.1_Silent_p.P578P NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 863 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AAACCTGCACTGGTGTCAACT 0.264000 PI4K2A 55361 broad.mit.edu 37 10 99361742 99361742 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:99361742G>A uc010qoy.1 + 2 699 c.340G>A c.(340-342)GCT>ACT p.A114T DHDPSL_uc001kny.2_Missense_Mutation_p.A277T|DHDPSL_uc001knz.2_Missense_Mutation_p.A114T NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha Error:Variant_position_missing_in_Q9BTU6_after_alignment phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) TGAGCCAAACGCTGCGGTGAG 0.672000 HPS1 3257 broad.mit.edu 37 10 100185471 100185471 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:100185471T>A uc010qpf.1 - 13 1408 c.1162A>T c.(1162-1164)AGC>TGC p.S388C HPS1_uc001kpi.1_Missense_Mutation_p.S388C|HPS1_uc001kpj.1_Missense_Mutation_p.S295C|HPS1_uc001kpk.1_Missense_Mutation_p.S212C|HPS1_uc010qpg.1_Intron|HPS1_uc009xwb.2_RNA NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 388 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGGGGCGCGCTGGGGCTCTGA 0.677000 Hermansky-Pudlak_syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HPSE2 60495 broad.mit.edu 37 10 100503680 100503680 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:100503680G>A uc001kpn.1 - 4 804 c.744C>T c.(742-744)AGC>AGT p.S248S HPSE2_uc009xwc.1_Silent_p.S238S|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 248 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TTTTGCTGGCGCTGTACTTCA 0.418000 SEMA4G 57715 broad.mit.edu 37 10 102743183 102743183 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:102743183C>T uc001krw.1 + 14 2211 c.1827C>T c.(1825-1827)AGC>AGT p.S609S SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN semaphorin 4G 604 Extracellular (Potential).|Ig-like C2-type. cell differentiation|nervous system development integral to membrane receptor activity breast(1) 1 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) TGGGCCTGAGCGATGGGCAGG 0.627000 C10orf2 56652 broad.mit.edu 37 10 102748165 102748165 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:102748165G>A uc001ksf.2 + 1 873 c.198G>A c.(196-198)GGG>GGA p.G66G MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.G66G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 66 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) ATTTGCGGGGGCATGGGATCC 0.562000 C10orf2 56652 broad.mit.edu 37 10 102748553 102748553 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:102748553C>T uc001ksf.2 + 1 1261 c.586C>T c.(586-588)CGA>TGA p.R196* MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R196*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron NM_021830 NP_068602 Q96RR1 PEO1_HUMAN twinkle isoform A 196 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding ovary(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) TTTCAGTGTGCGATATCTGCG 0.547000 TLX1NB 100038246 broad.mit.edu 37 10 102849604 102849604 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:102849604T>G uc001ksv.2 - 3 1356 c.59A>C c.(58-60)CAC>CCC p.H20P NM_001085398 NP_001078867 P0CAT3 TLXNB_HUMAN TLX1 divergent 20 0 AAGGAGAGAGTGCTGACTTGC 0.642000 DPCD 25911 broad.mit.edu 37 10 103360573 103360573 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:103360573G>A uc001ktn.2 + 3 229 c.224G>A c.(223-225)GGA>GAA p.G75E hsa-mir-3158-1|MI0014186_5'Flank NM_015448 NP_056263 Q9BVM2 DPCD_HUMAN DPCD protein 75 protein binding skin(1) 1 GCGCCCCTAGGAGCAGGGAAC 0.557000 CNNM2 54805 broad.mit.edu 37 10 104679834 104679834 + Missense_Mutation SNP G G A rs146507239 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:104679834G>A uc001kwm.2 + 1 1721 c.1597G>A c.(1597-1599)GCT>ACT p.A533T CNNM2_uc001kwn.2_Missense_Mutation_p.A533T|CNNM2_uc001kwl.2_Missense_Mutation_p.A533T NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 533 CBS 2. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CAAGTTGGACGCTATGCTGGA 0.463000 SLK 9748 broad.mit.edu 37 10 105761303 105761303 + Silent SNP T T C rs139324300 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:105761303T>C uc001kxo.1 + 8 1000 c.966T>C c.(964-966)GAT>GAC p.D322D SLK_uc001kxp.1_Silent_p.D322D NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 322 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) aagaggaagatgaagaggagg 0.279000 ITPRIP 85450 broad.mit.edu 37 10 106075805 106075805 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:106075805G>A uc001kye.2 - 2 78 c.5C>T c.(4-6)GCC>GTC p.A2V ITPRIP_uc001kyf.2_Missense_Mutation_p.A2V|ITPRIP_uc001kyg.2_Missense_Mutation_p.A2V NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN inositol 1,4,5-triphosphate receptor interacting 2 plasma membrane 0 GAGCCCCATGGCCATGGTTGG 0.627000 PDCD4 27250 broad.mit.edu 37 10 112647471 112647471 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:112647471G>A uc001kzh.2 + 6 847 c.604G>A c.(604-606)GTG>ATG p.V202M PDCD4_uc001kzg.2_Missense_Mutation_p.V191M|PDCD4_uc010qre.1_Missense_Mutation_p.V188M NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 202 MI 1. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGGAGTACCAGTGTTGGCAGT 0.353000 HABP2 3026 broad.mit.edu 37 10 115336940 115336940 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:115336940C>T uc001lai.3 + 5 466 c.363C>T c.(361-363)GGC>GGT p.G121G HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Missense_Mutation_p.A110V NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 121 EGF-like 2. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) ACCCATGTGGCCGGGGCCAAT 0.488000 PNLIP 5406 broad.mit.edu 37 10 118306822 118306822 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:118306822C>T uc001lcm.2 + 3 106 c.63C>T c.(61-63)TAC>TAT p.Y21Y NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 21 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AAGTTTGCTACGAAAGACTCG 0.428000 HTRA1 5654 broad.mit.edu 37 10 124249045 124249045 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:124249045G>A uc001lgj.2 + 3 808 c.680G>A c.(679-681)CGG>CAG p.R227Q NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 227 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AACAAGCACCGGGTCAAAGTT 0.493000 MKI67 4288 broad.mit.edu 37 10 129901083 129901083 + Silent SNP C C T rs141921507 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:129901083C>T uc001lke.2 - 13 9216 c.9021G>A c.(9019-9021)ACG>ACA p.T3007T MKI67_uc001lkf.2_Silent_p.T2647T|MKI67_uc009yav.1_Silent_p.T2582T|MKI67_uc009yaw.1_Silent_p.T2157T NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3007 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 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) TCTTGGTTCCCGTGACGCTTC 0.562000 MKI67 4288 broad.mit.edu 37 10 129902596 129902596 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:129902596C>T uc001lke.2 - 13 7703 c.7508G>A c.(7507-7509)CGG>CAG p.R2503Q MKI67_uc001lkf.2_Missense_Mutation_p.R2143Q|MKI67_uc009yav.1_Missense_Mutation_p.R2078Q|MKI67_uc009yaw.1_Missense_Mutation_p.R1653Q NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2503 16 X 122 AA approximate repeats.|13. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 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) CCCTGATGTCCGTGTGAGCTT 0.498000 ANO9 338440 broad.mit.edu 37 11 418560 418560 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:418560G>A uc001lpi.2 - 23 2245 c.2160C>T c.(2158-2160)GCC>GCT p.A720A SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.A413A|ANO9_uc010qvv.1_Silent_p.A576A NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 720 Helical; (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 CGAACCAGGCGGCGATGAGCT 0.622000 RNH1 6050 broad.mit.edu 37 11 494914 494914 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:494914G>A uc001lpk.1 - 8 2675 c.1267C>T c.(1267-1269)CGG>TGG p.R423W RNH1_uc001lpl.1_Missense_Mutation_p.R423W|RNH1_uc001lpm.1_Missense_Mutation_p.R423W|RNH1_uc001lpn.1_Missense_Mutation_p.R423W|RNH1_uc001lpo.1_Missense_Mutation_p.R423W|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.R423W|RNH1_uc001lpt.1_Missense_Mutation_p.R180W|RNH1_uc001lpq.1_Missense_Mutation_p.R423W|RNH1_uc001lpr.1_Missense_Mutation_p.R423W|RNH1_uc001lps.1_Missense_Mutation_p.R423W NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 423 LRR 15. RQ -> SE (in Ref. 2; CAA32151/AAA60249). mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCGGCTGCCGGACGCTCTCC 0.711000 RNH1 6050 broad.mit.edu 37 11 498841 498841 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:498841C>A uc001lpk.1 - 5 2115 c.707G>T c.(706-708)AGC>ATC p.S236I RNH1_uc001lpl.1_Missense_Mutation_p.S236I|RNH1_uc001lpm.1_Missense_Mutation_p.S236I|RNH1_uc001lpn.1_Missense_Mutation_p.S236I|RNH1_uc001lpo.1_Missense_Mutation_p.S236I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S236I|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S236I|RNH1_uc001lpr.1_Missense_Mutation_p.S236I|RNH1_uc001lps.1_Missense_Mutation_p.S236I NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 236 LRR 8. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCTTGTTGCTGCCCAGGGC 0.672000 RRM1 6240 broad.mit.edu 37 11 4144429 4144429 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:4144429C>T uc001lyw.3 + 12 1454 c.1135C>T c.(1135-1137)CGT>TGT p.R379C RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.R339C|RRM1_uc010qyc.1_Missense_Mutation_p.R282C|RRM1_uc010qyd.1_Missense_Mutation_p.R41C NM_001033 NP_001024 P23921 RIR1_HUMAN ribonucleoside-diphosphate reductase M1 chain 379 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) GAAACAAGGTCGTGTCCGCAA 0.353000 TRIM6 117854 broad.mit.edu 37 11 5632556 5632556 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:5632556G>A uc001mbc.1 + 8 1583 c.1451G>A c.(1450-1452)CGT>CAT p.R484H HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R458H|TRIM6_uc010qzj.1_Missense_Mutation_p.R309H|TRIM6_uc001mbe.2_Missense_Mutation_p.R309H|TRIM6_uc010qzk.1_Missense_Mutation_p.R309H|TRIM6_uc010qzl.1_Missense_Mutation_p.R309H|TRIM6_uc001mbd.2_Missense_Mutation_p.R512H|TRIM6_uc001mbg.1_Missense_Mutation_p.R309H|TRIM6_uc009yep.1_3'UTR NM_058166 NP_477514 Q9C030 TRIM6_HUMAN tripartite motif-containing 6 isoform 2 484 B30.2/SPRY. protein trimerization cytoplasm zinc ion binding 0 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) ATGACCCTGCGTCGTCCAAGC 0.413000 OR52E6 390078 broad.mit.edu 37 11 5862873 5862874 + Missense_Mutation DNP GC GC TT TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:5862873_5862874GC>TT uc010qzq.1 - 1 254_255 c.254_255GC>AA c.(253-255)GGC>GAA p.G85E TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGAAGATGCCCAGCATTTT 0.465000 OR10A4 283297 broad.mit.edu 37 11 6898314 6898314 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:6898314G>A uc010rat.1 + 1 436 c.436G>A c.(436-438)GCA>ACA p.A146T NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGCCCAGCTGGCAGCTGCCTC 0.552000 ZNF214 7761 broad.mit.edu 37 11 7021712 7021712 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:7021712A>C uc001mfa.2 - 3 1505 c.1202T>G c.(1201-1203)CTT>CGT p.L401R ZNF214_uc010ray.1_Missense_Mutation_p.L401R|ZNF214_uc009yfh.1_Missense_Mutation_p.L401R NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 401 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ATGAATTCGAAGATTTGAGCT 0.408000 ZNF214 7761 broad.mit.edu 37 11 7022691 7022691 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:7022691C>T uc001mfa.2 - 3 526 c.223G>A c.(223-225)GCC>ACC p.A75T ZNF214_uc010ray.1_Missense_Mutation_p.A75T|ZNF214_uc009yfh.1_Missense_Mutation_p.A75T NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TACATCTGGGCGCCAGCATTC 0.418000 RBMXL2 27288 broad.mit.edu 37 11 7111338 7111338 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:7111338T>C uc001mfc.2 + 1 1174 c.987T>C c.(985-987)AGT>AGC p.S329S NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 329 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACAGCAGCAGTTATGGCCGGA 0.672000 IPO7 10527 broad.mit.edu 37 11 9451349 9451349 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:9451349A>G uc001mho.2 + 15 1862 c.1720A>G c.(1720-1722)ACT>GCT p.T574A NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 574 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TGAAGAAGTTACTCCTATTGC 0.348000 USH1C 10083 broad.mit.edu 37 11 17519712 17519712 + Silent SNP G G A rs142801489 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:17519712G>A uc001mnf.2 - 19 1696 c.1587C>T c.(1585-1587)GGC>GGT p.G529G USH1C_uc001mne.2_Silent_p.G829G|USH1C_uc009yhb.2_Silent_p.G510G|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.G493G NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 529 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 TTCTTACCCCGCCCTGATTCC 0.577000 MRGPRX3 117195 broad.mit.edu 37 11 18159640 18159640 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:18159640C>T uc001mnu.2 + 3 1252 c.891C>T c.(889-891)GAC>GAT p.D297D NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 297 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CTCTGCAGGACACGCCTGAGG 0.562000 MRGPRX1 259249 broad.mit.edu 37 11 18955384 18955384 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:18955384C>T uc001mpg.2 - 1 1166 c.948G>A c.(946-948)TCG>TCA p.S316S NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 316 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 ATCTGCTTCCCGACAGCTCCA 0.547000 MRGPRX1 259249 broad.mit.edu 37 11 18956154 18956154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:18956154C>T uc001mpg.2 - 1 396 c.178G>A c.(178-180)GCC>ACC p.A60T NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 60 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 ATGGAGAAGGCGTTCCTGCGC 0.567000 ANO3 63982 broad.mit.edu 37 11 26558958 26558958 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:26558958C>T uc001mqt.3 + 10 1127 c.982C>T c.(982-984)CGT>TGT p.R328C ANO3_uc010rdr.1_Missense_Mutation_p.R312C|ANO3_uc010rds.1_Missense_Mutation_p.R167C|ANO3_uc010rdt.1_Missense_Mutation_p.R182C NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 328 Cytoplasmic (Potential). chloride channel complex chloride channel activity p.R328H(1) ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGCAGGTATCCGTAAACTTAT 0.353000 ABTB2 25841 broad.mit.edu 37 11 34218969 34218969 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:34218969C>T uc001mvl.1 - 3 819 c.589G>A c.(589-591)GCC>ACC p.A197T NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 197 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GTGTGGAGGGCGTCGGGGGAC 0.647000 PRR5L 79899 broad.mit.edu 37 11 36459025 36459025 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:36459025A>G uc001mwo.3 + 6 832 c.443A>G c.(442-444)CAG>CGG p.Q148R PRR5L_uc001mwp.2_Missense_Mutation_p.Q148R|PRR5L_uc009ykk.2_Missense_Mutation_p.Q67R|PRR5L_uc010rfc.1_Missense_Mutation_p.Q148R NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 148 ovary(1) 1 TATCCAGTTCAGGTTAGTCTC 0.512000 CHST1 8534 broad.mit.edu 37 11 45672102 45672102 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:45672102C>T uc001mys.1 - 4 1043 c.372G>A c.(370-372)CTG>CTA p.L124L NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 124 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) AGAGGCTCCGCAGGAGGTCGC 0.677000 GYLTL1B 120071 broad.mit.edu 37 11 45949039 45949039 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:45949039C>T uc001nbv.1 + 11 1610 c.1499C>T c.(1498-1500)CCC>CTC p.P500L GYLTL1B_uc001nbw.1_Missense_Mutation_p.P469L|GYLTL1B_uc001nbx.1_Missense_Mutation_p.P500L|GYLTL1B_uc001nby.1_Missense_Mutation_p.P183L|GYLTL1B_uc001nbz.1_5'Flank NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 500 Lumenal (Potential). muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.226) CCCCTATACCCCGTCAACCAG 0.597000 CHRM4 1132 broad.mit.edu 37 11 46406884 46406884 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:46406884G>T uc001nct.1 - 1 1224 c.1224C>A c.(1222-1224)GCC>GCA p.A408A NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 408 Helical; Name=6; (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGAGGATGAAGGCTAGCAGAA 0.592000 SPI1 6688 broad.mit.edu 37 11 47399893 47399893 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:47399893C>T uc001nfc.1 - 1 235 c.12G>A c.(10-12)GCG>GCA p.A4A SPI1_uc001nfb.1_Silent_p.A4A|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Translation_Start_Site NM_003120 NP_003111 P17947 SPI1_HUMAN hematopoietic transcription factor PU.1 isoform 4 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 Lung(87;0.0967) CCATTTTGCACGCCTGTAACA 0.677000 OR10AG1 282770 broad.mit.edu 37 11 55735092 55735092 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:55735092A>G uc010rit.1 - 1 848 c.848T>C c.(847-849)CTG>CCG p.L283P NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TTTGTTCCTCAGGGTATATAT 0.323000 SSRP1 6749 broad.mit.edu 37 11 57099223 57099223 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:57099223C>T uc001njt.2 - 9 1409 c.1142G>A c.(1141-1143)CGT>CAT p.R381H NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 381 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 AGTGGTACCACGAGCAAAGTT 0.522000 SSRP1 6749 broad.mit.edu 37 11 57100495 57100495 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:57100495A>G uc001njt.2 - 5 742 c.475T>C c.(475-477)TCT>CCT p.S159P SSRP1_uc010rjq.1_Missense_Mutation_p.S159P NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 159 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TCCATGAGAGACACCTCTGCG 0.572000 TCN1 6947 broad.mit.edu 37 11 59622240 59622240 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:59622240C>T uc001noj.2 - 7 1104 c.1006G>A c.(1006-1008)GTC>ATC p.V336I NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 336 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGTAATTGACGGAGATATAT 0.418000 MS4A12 54860 broad.mit.edu 37 11 60269478 60269478 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:60269478C>G uc001npr.2 + 4 494 c.437C>G c.(436-438)TCT>TGT p.S146C NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 146 Cytoplasmic (Potential). integral to membrane receptor activity 0 GGCTCTCTCTCTGTGTCAGCA 0.388000 VWCE 220001 broad.mit.edu 37 11 61032017 61032017 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:61032017G>A uc001nra.2 - 19 2451 c.2172C>T c.(2170-2172)TGC>TGT p.C724C VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 724 VWFC 6. extracellular region calcium ion binding ovary(1) 1 AGGCCCGCTGGCAGGGAACCT 0.622000 DDB1 1642 broad.mit.edu 37 11 61097046 61097046 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:61097046C>T uc001nrc.3 - 4 564 c.338G>A c.(337-339)GGC>GAC p.G113D DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G113D|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.G113D|DDB1_uc009ynl.1_Intron NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 113 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TGAGGGGCGGCCAATGCGGTC 0.502000 NER DAGLA 747 broad.mit.edu 37 11 61488196 61488196 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:61488196G>A uc001nsa.2 + 3 252 c.141G>A c.(139-141)CCG>CCA p.P47P NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 47 Extracellular (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) TCTATAACCCGCACGAGGCCT 0.622000 INCENP 3619 broad.mit.edu 37 11 61897808 61897808 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:61897808C>A uc001nsw.1 + 4 1011 c.809C>A c.(808-810)CCA>CAA p.P270Q INCENP_uc009ynv.2_Missense_Mutation_p.P270Q|INCENP_uc009ynw.1_Missense_Mutation_p.P270Q|INCENP_uc001nsx.1_Missense_Mutation_p.P270Q NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 270 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 CGGGACTCGCCAGCCTTTCCA 0.657000 TAF6L 10629 broad.mit.edu 37 11 62554065 62554065 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:62554065G>A uc001nvc.2 + 11 1267 c.1166G>A c.(1165-1167)TGC>TAC p.C389Y TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 389 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 GGCAGGGGGTGCCGGCGCCTG 0.652000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NRXN2 9379 broad.mit.edu 37 11 64453271 64453271 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:64453271C>T uc001oar.2 - 7 1438 c.999G>A c.(997-999)TCG>TCA p.S333S NRXN2_uc001oas.2_Silent_p.S309S|NRXN2_uc001oaq.2_Silent_p.S7S NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CGTAGTCGGCCGACTTGCCTG 0.592000 MEN1 4221 broad.mit.edu 37 11 64575097 64575097 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:64575097G>A uc001obj.2 - 4 798 c.725C>T c.(724-726)GCG>GTG p.A242V MEN1_uc001obk.2_Missense_Mutation_p.A242V|MEN1_uc001obl.2_Missense_Mutation_p.A202V|MEN1_uc001obm.2_Missense_Mutation_p.A237V|MEN1_uc001obn.2_Missense_Mutation_p.A242V|MEN1_uc001obo.2_Missense_Mutation_p.A242V|MEN1_uc001obp.2_Missense_Mutation_p.A237V|MEN1_uc001obq.2_Missense_Mutation_p.A242V|MEN1_uc001obr.2_Missense_Mutation_p.A242V NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 242 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.A242_I247del(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 CACCATGAACGCCACCTCCAT 0.438000 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 ATG2A 23130 broad.mit.edu 37 11 64676743 64676743 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:64676743T>G uc001obx.2 - 15 2319 c.2204A>C c.(2203-2205)CAG>CCG p.Q735P NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 735 protein binding ovary(1)|central_nervous_system(1) 2 CCCTACTTACTGGGGCAGGAA 0.637000 KLC2 64837 broad.mit.edu 37 11 66033586 66033586 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:66033586G>A uc010rov.1 + 14 1868 c.1625G>A c.(1624-1626)CGC>CAC p.R542H KLC2_uc010row.1_Missense_Mutation_p.R542H|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R542H|KLC2_uc010rox.1_Missense_Mutation_p.R465H|KLC2_uc001ohc.2_Missense_Mutation_p.R542H|KLC2_uc001ohd.2_Missense_Mutation_p.R465H|KLC2_uc001ohe.1_Missense_Mutation_p.R403H|RAB1B_uc001ohf.2_5'Flank NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 542 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 TCCTTGAGGCGCAGCGGTTCC 0.687000 CCDC87 55231 broad.mit.edu 37 11 66359936 66359936 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:66359936C>A uc001oiq.3 - 1 619 c.551G>T c.(550-552)AGG>ATG p.R184M CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 184 ovary(1)|skin(1) 2 CTGCTCTGCCCTCAGCAGGGC 0.647000 RBM4 5936 broad.mit.edu 37 11 66411194 66411194 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:66411194G>A uc009yrj.2 + 3 1174 c.686G>A c.(685-687)CGG>CAG p.R229Q RBM4_uc009yrk.2_Missense_Mutation_p.R204Q|RBM4_uc001oiw.1_Missense_Mutation_p.R229Q|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229Q|RBM4_uc001oiz.1_Missense_Mutation_p.R229Q NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 229 Interaction with TNPO3. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CGTGCTGCCCGGTCCTATGAG 0.567000 CHKA 1119 broad.mit.edu 37 11 67821508 67821508 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:67821508C>T uc001onj.2 - 12 1535 c.1321G>A c.(1321-1323)GCC>ACC p.A441T CHKA_uc001onk.2_Missense_Mutation_p.A423T NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 441 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) CTTGCTTGGGCGTAGTCCTAG 0.577000 NADSYN1 55191 broad.mit.edu 37 11 71194025 71194025 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:71194025G>A uc001oqn.2 + 14 1407 c.1281G>A c.(1279-1281)ACG>ACA p.T427T NADSYN1_uc001oqo.2_Silent_p.T167T|NADSYN1_uc001oqp.2_Silent_p.T56T NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 427 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCAGGAGACGTGCACCCGGG 0.592000 KRTAP5-7 440050 broad.mit.edu 37 11 71238426 71238426 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:71238426G>A uc001oqq.1 + 1 114 c.80G>A c.(79-81)GGC>GAC p.G27D NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 27 keratin filament 0 TGTGGCTCTGGCTGTGGGGGA 0.662000 FCHSD2 9873 broad.mit.edu 37 11 72553749 72553749 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:72553749G>A uc009ytl.2 - 17 2064 c.1843C>T c.(1843-1845)CGT>TGT p.R615C FCHSD2_uc010rrg.1_Missense_Mutation_p.R479C|FCHSD2_uc001oth.3_Missense_Mutation_p.R559C|ATG16L2_uc009ytj.1_3'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 615 SH3 2. protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) ACTCCAATACGCCCATTGAAT 0.453000 RELT 84957 broad.mit.edu 37 11 73106270 73106270 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:73106270G>T uc001otv.2 + 10 1350 c.1185G>T c.(1183-1185)CTG>CTT p.L395L RELT_uc001otw.2_Silent_p.L395L|RELT_uc001otx.2_RNA NM_152222 NP_689408 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor precursor 395 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane binding|receptor activity upper_aerodigestive_tract(1) 1 AGCAGGCCCTGCTAGGAAGTG 0.627000 CHRDL2 25884 broad.mit.edu 37 11 74421946 74421946 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:74421946T>C uc001ovi.2 - 4 633 c.380A>G c.(379-381)CAT>CGT p.H127R CHRDL2_uc001ovg.2_Missense_Mutation_p.H11R|CHRDL2_uc001ovh.2_Missense_Mutation_p.H127R|CHRDL2_uc001ovk.1_Missense_Mutation_p.H127R Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 127 VWFC 2. cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) GAACAGCTCATGGGCACTGAA 0.617000 XRRA1 143570 broad.mit.edu 37 11 74562191 74562191 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:74562191C>T uc009yub.2 - 14 1630 c.1298G>A c.(1297-1299)CGA>CAA p.R433Q XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovo.2_Missense_Mutation_p.R41Q|XRRA1_uc001ovq.3_Missense_Mutation_p.R346Q|XRRA1_uc001ovp.3_Missense_Mutation_p.R158Q|XRRA1_uc001ovr.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovs.1_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 433 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 TATCTTCCTTCGAATTAAGTG 0.473000 NEU3 10825 broad.mit.edu 37 11 74716692 74716692 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:74716692G>A uc001ovw.2 + 3 697 c.541G>A c.(541-543)GTC>ATC p.V181I NEU3_uc001ovv.2_Missense_Mutation_p.V171I|NEU3_uc010rrl.1_Missense_Mutation_p.V72I NM_006656 NP_006647 A8K327 A8K327_HUMAN sialidase 3 181 ovary(2) 2 GACTGAGGAGGTCATTGGCTC 0.547000 RSF1 51773 broad.mit.edu 37 11 77383228 77383228 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:77383228G>A uc001oyn.2 - 15 3730 c.3610C>T c.(3610-3612)CGA>TGA p.R1204* RSF1_uc001oym.2_Nonsense_Mutation_p.R952* NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1204 Arg-rich. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GACCGCCTTCGCCGAGTTTCT 0.343000 DLG2 1740 broad.mit.edu 37 11 83691553 83691553 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:83691553A>G uc001paj.2 - 7 1040 c.737T>C c.(736-738)CTA>CCA p.L246P DLG2_uc001pai.2_Missense_Mutation_p.L195P|DLG2_uc010rsy.1_Missense_Mutation_p.L213P|DLG2_uc010rsz.1_Missense_Mutation_p.L246P|DLG2_uc010rta.1_Missense_Mutation_p.L246P|DLG2_uc001pak.2_Missense_Mutation_p.L351P|DLG2_uc010rtb.1_Missense_Mutation_p.L213P|DLG2_uc001pal.1_Missense_Mutation_p.L246P|DLG2_uc001pam.1_Missense_Mutation_p.L285P NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 246 PDZ 2. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ACTCACCATTAGTAGTCTATC 0.318000 NAALAD2 10003 broad.mit.edu 37 11 89896482 89896482 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:89896482G>A uc001pdf.3 + 10 1189 c.1080G>A c.(1078-1080)AGG>AGA p.R360R NAALAD2_uc009yvx.2_Silent_p.R327R|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.R267R NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 360 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TTCCAGACAGGTATGTTATTC 0.363000 FAT3 120114 broad.mit.edu 37 11 92564790 92564790 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:92564790A>G uc001pdj.3 + 13 9501 c.9484A>G c.(9484-9486)ATC>GTC p.I3162V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3162 Cadherin 29.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCCACAGGCATCAATAGGAA 0.517000 TCGA Ovarian(4;0.039) PIWIL4 143689 broad.mit.edu 37 11 94328536 94328536 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:94328536T>C uc001pfa.2 + 10 1423 c.1212T>C c.(1210-1212)CGT>CGC p.R404R PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 404 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AAAAGACACGTCTCAGTCCTT 0.507000 PGR 5241 broad.mit.edu 37 11 100909916 100909916 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:100909916T>G uc001pgh.2 - 8 3476 c.2733A>C c.(2731-2733)GAA>GAC p.E911D PGR_uc001pgg.2_Missense_Mutation_p.E292D|PGR_uc001pgi.2_Missense_Mutation_p.E809D|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 911 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CAGCAATAACTTCAGACATCA 0.363000 TRPC6 7225 broad.mit.edu 37 11 101375456 101375456 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:101375456G>A uc001pgk.3 - 2 669 c.244C>T c.(244-246)CGA>TGA p.R82* TRPC6_uc009ywy.2_Nonsense_Mutation_p.R82*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.R82* NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 82 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCTGGTCCTCGATTAGCTAAC 0.493000 ANGPTL5 253935 broad.mit.edu 37 11 101762047 101762047 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:101762047A>G uc001pgl.2 - 9 1726 c.1130T>C c.(1129-1131)ATG>ACG p.M377T NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 377 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TCTAATTTTCATTGAAACAGA 0.294000 SIK2 23235 broad.mit.edu 37 11 111594498 111594498 + Missense_Mutation SNP G G A rs34223841 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:111594498G>A uc001plt.2 + 15 2544 c.2426G>A c.(2425-2427)CGG>CAG p.R809Q NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 809 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 TCCGGTCCCCGGGCTGCTCCT 0.522000 DIXDC1 85458 broad.mit.edu 37 11 111866267 111866267 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:111866267G>A uc001pml.2 + 17 1965 c.1668G>A c.(1666-1668)ACG>ACA p.T556T DIXDC1_uc001pmm.2_Silent_p.T345T|DIXDC1_uc001pmn.2_Silent_p.T262T|DIXDC1_uc010rwq.1_Silent_p.T221T NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 556 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TTATGGAGACGCAGAAGAAAC 0.478000 HTR3A 3359 broad.mit.edu 37 11 113857293 113857293 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:113857293C>A uc010rxb.1 + 7 1010 c.777C>A c.(775-777)AGC>AGA p.S259R HTR3A_uc010rxa.1_Missense_Mutation_p.S259R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S238R NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 253 Helical; Name=1; (Potential). digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity 0 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) TACTGCCCAGCATCTTCCTCA 0.597000 CEP164 22897 broad.mit.edu 37 11 117280458 117280458 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:117280458G>A uc001prc.2 + 30 4020 c.3873G>A c.(3871-3873)CCG>CCA p.P1291P CEP164_uc001prb.2_Silent_p.P1286P|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.P716P NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1291 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 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) AGTCGCCGCCGCCGCTCCTCG 0.662000 TMPRSS4 56649 broad.mit.edu 37 11 117983990 117983990 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:117983990T>C uc010rxo.1 + 9 1041 c.750T>C c.(748-750)CAT>CAC p.H250H TMPRSS4_uc010rxp.1_Silent_p.H245H|TMPRSS4_uc010rxq.1_Silent_p.H103H|TMPRSS4_uc010rxr.1_Silent_p.H225H|TMPRSS4_uc010rxs.1_Silent_p.H210H|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.H225H NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 250 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CCAGGAAACATACCGATGTGT 0.577000 MLL 4297 broad.mit.edu 37 11 118373724 118373724 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:118373724C>A uc001pta.2 + 27 7131 c.7108C>A c.(7108-7110)CTC>ATC p.L2370I MLL_uc001ptb.2_Missense_Mutation_p.L2373I NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2370 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTTCCCACACCTCCATTTGAG 0.438000 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL HYOU1 10525 broad.mit.edu 37 11 118919524 118919524 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:118919524G>A uc001puu.2 - 18 2260 c.2067C>T c.(2065-2067)CCC>CCT p.P689P HYOU1_uc001put.2_Silent_p.P654P|HYOU1_uc010ryu.1_Silent_p.P647P|HYOU1_uc010ryv.1_Silent_p.P578P|HYOU1_uc001pux.3_Silent_p.P689P|HYOU1_uc010ryw.1_RNA NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 689 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GCTTCCTGGCGGGCTTCTGCT 0.607000 C2CD2L 9854 broad.mit.edu 37 11 118983195 118983195 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:118983195A>G uc001pvo.2 + 9 1447 c.1088A>G c.(1087-1089)GAA>GGA p.E363G C2CD2L_uc001pvn.2_Missense_Mutation_p.E363G NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 363 integral to membrane 0 TCCCCAGCCGAACTCCTAGGC 0.652000 PVRL1 5818 broad.mit.edu 37 11 119535676 119535676 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:119535676G>A uc001pwv.2 - 6 1507 c.1335C>T c.(1333-1335)GGC>GGT p.G445G PVRL1_uc001pwu.1_Intron NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 445 Poly-Gly.|Cytoplasmic (Potential). adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCCCTCCACCGCcctcctcct 0.582000 PVRL1 5818 broad.mit.edu 37 11 119549297 119549297 + Silent SNP G G A rs150914244 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:119549297G>A uc001pwv.2 - 2 430 c.258C>T c.(256-258)GGC>GGT p.G86G PVRL1_uc001pwu.1_Silent_p.G86G|PVRL1_uc001pww.2_Silent_p.G86G NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 86 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GCACGGACACGCCCATGGATG 0.617000 OR6M1 390261 broad.mit.edu 37 11 123676666 123676666 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:123676666G>A uc010rzz.1 - 1 392 c.392C>T c.(391-393)ACG>ATG p.T131M NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 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) CATGATGACCGTGTAGTGCAG 0.517000 OR8B8 26493 broad.mit.edu 37 11 124310482 124310482 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:124310482G>A uc010sal.1 - 1 500 c.500C>T c.(499-501)ACC>ATC p.T167I NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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) GGCACAGAAGGTCACACCCAT 0.512000 SRPR 6734 broad.mit.edu 37 11 126136758 126136758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:126136758C>T uc001qdh.2 - 5 637 c.586G>A c.(586-588)GTG>ATG p.V196M SRPR_uc010sbm.1_Missense_Mutation_p.V168M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 196 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCAGGACCCACTGGAAGACCT 0.493000 KIRREL3 84623 broad.mit.edu 37 11 126314938 126314938 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:126314938G>A uc001qea.2 - 10 1549 c.1188C>T c.(1186-1188)TAC>TAT p.Y396Y KIRREL3_uc001qeb.2_Silent_p.Y396Y|KIRREL3_uc001qec.1_Silent_p.Y396Y NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 396 Extracellular (Potential).|Ig-like C2-type 4. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 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) CCCGGCACACGTACTTGCCCG 0.637000 NFRKB 4798 broad.mit.edu 37 11 129739602 129739602 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:129739602G>A uc001qfi.2 - 24 3519 c.3318C>T c.(3316-3318)ACC>ACT p.T1106T NFRKB_uc001qfg.2_Silent_p.T1131T|NFRKB_uc001qfh.2_Silent_p.T1129T|NFRKB_uc010sbw.1_Silent_p.T1116T|NFRKB_uc009zcr.2_Silent_p.T392T NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1106 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGGTTGCAACGGTGATGGTCT 0.577000 FGF6 2251 broad.mit.edu 37 12 4554633 4554633 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:4554633A>G uc001qmr.1 - 1 148 c.104T>C c.(103-105)GTG>GCG p.V35A NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 35 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CGAGGGCACCACCATGCCCAC 0.657000 PLEKHG6 55200 broad.mit.edu 37 12 6435695 6435695 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:6435695C>A uc001qnr.2 + 14 1774 c.1626C>A c.(1624-1626)CCC>CCA p.P542P PLEKHG6_uc010sew.1_Silent_p.P542P|PLEKHG6_uc010sex.1_Silent_p.P510P NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 542 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 GCACCAGGCCCTCCACGCCTT 0.627000 NCAPD2 9918 broad.mit.edu 37 12 6637928 6637928 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:6637928A>G uc001qoo.2 + 26 3429 c.3383A>G c.(3382-3384)AAG>AGG p.K1128R NCAPD2_uc010sfd.1_Missense_Mutation_p.K1083R NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1128 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 GTGAAGGTGAAGGGGCAGGTC 0.582000 ZNF384 171017 broad.mit.edu 37 12 6781678 6781678 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:6781678G>A uc010sfh.1 - 8 1140 c.932C>T c.(931-933)ACG>ATG p.T311M ZNF384_uc001qpz.2_Intron|ZNF384_uc001qqa.2_Intron|ZNF384_uc001qqb.2_Intron|ZNF384_uc001qqc.2_Intron|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Intron NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 GATGGTCTCCGTGTGCATCTT 0.627000 T EWSR1|TAF15 ALL PEX5 5830 broad.mit.edu 37 12 7361095 7361095 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:7361095G>A uc009zfu.1 + 14 1804 c.1224G>A c.(1222-1224)GCG>GCA p.A408A PEX5_uc001qsw.2_Silent_p.A408A|PEX5_uc010sgc.1_Silent_p.A423A|PEX5_uc001qsu.2_Silent_p.A371A|PEX5_uc010sgd.1_Silent_p.A429A|PEX5_uc001qsv.2_Silent_p.A400A NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 408 TPR 3. protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 CACTGATGGCGCTGGCTGTGA 0.552000 GUCY2C 2984 broad.mit.edu 37 12 14796578 14796578 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:14796578G>A uc001rcd.2 - 17 1997 c.1860C>T c.(1858-1860)TGC>TGT p.C620C NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 620 Cytoplasmic (Potential).|Protein kinase. 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 ovary(4)|skin(2) 6 TGTCCACTACGCAGTTGGTAG 0.383000 RERG 85004 broad.mit.edu 37 12 15262151 15262151 + Nonsense_Mutation SNP G G A rs141738265 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:15262151G>A uc001rcs.2 - 4 633 c.493C>T c.(493-495)CGA>TGA p.R165* RERG_uc001rct.2_Nonsense_Mutation_p.R165*|RERG_uc010shu.1_Nonsense_Mutation_p.R146* NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 165 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 CGCACCTCTCGACACAATTCA 0.522000 ST8SIA1 6489 broad.mit.edu 37 12 22408252 22408252 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:22408252G>A uc001rfo.3 - 3 935 c.453C>T c.(451-453)GGC>GGT p.G151G ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 151 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 GACGGCCACAGCCACTCTTCT 0.522000 SOX5 6660 broad.mit.edu 37 12 23689491 23689491 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:23689491C>T uc001rfw.2 - 14 1986 c.1884G>A c.(1882-1884)AGG>AGA p.R628R SOX5_uc001rfx.2_Silent_p.R615R|SOX5_uc001rfy.2_Silent_p.R507R|SOX5_uc001rfv.2_Silent_p.R242R|SOX5_uc010siv.1_Silent_p.R615R|SOX5_uc010siw.1_RNA NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 628 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGCGCTTTGGCCTGGGCTTGT 0.512000 SLC2A13 114134 broad.mit.edu 37 12 40158332 40158332 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:40158332T>A uc010skm.1 - 9 1701 c.1650A>T c.(1648-1650)GGA>GGT p.G550G C12orf40_uc009zjv.1_Intron NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 550 Helical; Name=11; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) TCCAGTTTATTCCAGATGAAC 0.338000 HNSCC(50;0.14) LRRK2 120892 broad.mit.edu 37 12 40631824 40631824 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:40631824T>G uc001rmg.3 + 5 611 c.490T>G c.(490-492)TTT>GTT p.F164V NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 164 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CATGTTAATTTTTGATGCCAT 0.333000 ADAMTS20 80070 broad.mit.edu 37 12 43770328 43770328 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:43770328G>A uc010skx.1 - 33 5124 c.5124C>T c.(5122-5124)GAC>GAT p.D1708D NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1708 TSP type-1 15. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 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) ACTACTTACAGTCATTGGCAT 0.323000 NELL2 4753 broad.mit.edu 37 12 45004675 45004675 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:45004675C>T uc001rog.2 - 14 2118 c.1523G>A c.(1522-1524)TGT>TAT p.C508Y NELL2_uc001rof.3_Missense_Mutation_p.C507Y|NELL2_uc001roh.2_Missense_Mutation_p.C508Y|NELL2_uc009zkd.2_Missense_Mutation_p.C507Y|NELL2_uc010skz.1_Missense_Mutation_p.C558Y|NELL2_uc010sla.1_Missense_Mutation_p.C531Y|NELL2_uc001roi.1_Missense_Mutation_p.C508Y|NELL2_uc010slb.1_Missense_Mutation_p.C507Y NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 508 EGF-like 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CTTGCAAACACAGTTGTGTCC 0.363000 WNT1 7471 broad.mit.edu 37 12 49374314 49374314 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:49374314C>T uc001rsu.2 + 3 664 c.466C>T c.(466-468)CGG>TGG p.R156W NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 156 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) GTGTGACTAccggcggcgcgg 0.537000 FAM186B 84070 broad.mit.edu 37 12 49997058 49997058 + Missense_Mutation SNP G G C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:49997058G>C uc001ruo.2 - 3 588 c.415C>G c.(415-417)CCG>GCG p.P139A FAM186B_uc010smk.1_Missense_Mutation_p.P49A NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 139 protein complex ovary(1) 1 AGGGACAGCGGTAACACTTTC 0.498000 LIMA1 51474 broad.mit.edu 37 12 50571305 50571305 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:50571305C>T uc001rwj.3 - 11 1996 c.1822G>A c.(1822-1824)GTG>ATG p.V608M LIMA1_uc001rwg.3_Missense_Mutation_p.V306M|LIMA1_uc001rwh.3_Missense_Mutation_p.V447M|LIMA1_uc001rwi.3_Missense_Mutation_p.V449M|LIMA1_uc001rwk.3_Missense_Mutation_p.V609M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 608 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GGTGGGGACACAGTTTTTGGG 0.483000 DIP2B 57609 broad.mit.edu 37 12 51138372 51138372 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:51138372C>T uc001rwv.2 + 38 4637 c.4481C>T c.(4480-4482)GCC>GTC p.A1494V DIP2B_uc009zlt.2_Missense_Mutation_p.A924V NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1494 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 AATTTCAGTGCCGTGTTCACA 0.468000 KRT73 319101 broad.mit.edu 37 12 53012094 53012094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:53012094C>T uc001sas.2 - 1 250 c.215G>A c.(214-216)GGA>GAA p.G72E NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 72 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CCGGCCAAATCCATAGCCTCC 0.642000 TENC1 23371 broad.mit.edu 37 12 53451888 53451888 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:53451888T>C uc001sbp.2 + 14 1230 c.1095_splice c.e14+2 p.M365_splice TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank NM_170754 NP_736610 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding ovary(1)|pancreas(1) 2 GATGTCATGGTGAGGGGGGTC 0.577000 SOAT2 8435 broad.mit.edu 37 12 53515103 53515103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:53515103C>T uc001sbv.2 + 12 1242 c.1154C>T c.(1153-1155)ACG>ATG p.T385M SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 385 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 TGGAACTCAACGTCCTTCTCC 0.597000 ZNF385A 25946 broad.mit.edu 37 12 54765373 54765373 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:54765373G>A uc001sfw.1 - 4 671 c.488C>T c.(487-489)CCG>CTG p.P163L ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 CAAGGAAGCCGGGGCTGGAGT 0.622000 NCKAP1L 3071 broad.mit.edu 37 12 54911335 54911335 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:54911335G>A uc001sgc.3 + 12 1193 c.1114G>A c.(1114-1116)GCC>ACC p.A372T NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.A322T NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 372 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 ovary(3)|central_nervous_system(1) 4 TGCTTTCATGGCCCTGTCCTT 0.423000 KIAA0748 9840 broad.mit.edu 37 12 55360194 55360194 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:55360194C>T uc001sgn.3 - 6 435 c.325G>A c.(325-327)GCC>ACC p.A109T KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Missense_Mutation_p.A109T|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 109 ovary(1)|central_nervous_system(1) 2 TTGCCATTGGCGGCCAGTAGT 0.323000 OR9K2 441639 broad.mit.edu 37 12 55523916 55523916 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:55523916T>C uc010spe.1 + 1 364 c.364T>C c.(364-366)TGT>CGT p.C122R NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 122 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 CTTTGCAGGCTGTGTGGCCCA 0.468000 OR6C4 341418 broad.mit.edu 37 12 55945174 55945174 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:55945174C>G uc010spp.1 + 1 164 c.164C>G c.(163-165)ACC>AGC p.T55S NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACCTCCAGACCCCCATGTAT 0.408000 ITGA7 3679 broad.mit.edu 37 12 56082688 56082688 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:56082688G>T uc001shh.2 - 22 3130 c.2910C>A c.(2908-2910)AGC>AGA p.S970R ITGA7_uc001shg.2_Missense_Mutation_p.S966R|ITGA7_uc010sps.1_Missense_Mutation_p.S873R|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.S213R|ITGA7_uc009znx.2_Missense_Mutation_p.S847R NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1010 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CGCGGTCAAAGCTGTAGAGTG 0.592000 CS 1431 broad.mit.edu 37 12 56667564 56667564 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:56667564C>T uc001sks.1 - 10 1227 c.1037G>A c.(1036-1038)GGC>GAC p.G346D CS_uc010sql.1_Missense_Mutation_p.G333D|CS_uc001skr.1_Missense_Mutation_p.G280D|CS_uc001skt.1_Missense_Mutation_p.G301D|CS_uc010sqm.1_3'UTR NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 346 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) TACTGCATGGCCATAGCCTGG 0.348000 GPR182 11318 broad.mit.edu 37 12 57389029 57389029 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:57389029G>T uc001smk.2 + 2 130 c.36G>T c.(34-36)TCG>TCT p.S12S RDH16_uc010sqx.1_Intron NM_007264 NP_009195 O15218 GP182_HUMAN G protein-coupled receptor 182 12 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(1) 1 CTGGCCCCTCGGAGGGGGTCA 0.597000 MON2 23041 broad.mit.edu 37 12 62926342 62926342 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:62926342G>T uc001sre.2 + 12 1916 c.1525G>T c.(1525-1527)GAG>TAG p.E509* MON2_uc009zqj.2_Nonsense_Mutation_p.E509*|MON2_uc010ssl.1_Nonsense_Mutation_p.E437*|MON2_uc010ssm.1_Nonsense_Mutation_p.E509*|MON2_uc010ssn.1_Nonsense_Mutation_p.E509*|MON2_uc001srf.2_Nonsense_Mutation_p.E272* NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 509 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AGAGCTAGGAGAGCTTGAAAC 0.443000 CAND1 55832 broad.mit.edu 37 12 67696193 67696193 + Missense_Mutation SNP G G T rs4255614 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:67696193G>T uc001stn.2 + 8 1528 c.1091G>T c.(1090-1092)AGG>ATG p.R364M CAND1_uc001sto.2_Missense_Mutation_p.R42M NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 364 HEAT 8. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GTTAGCACAAGGCATGAAATG 0.433000 CAND1 55832 broad.mit.edu 37 12 67700125 67700125 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:67700125C>T uc001stn.2 + 10 3114 c.2677C>T c.(2677-2679)CCG>TCG p.P893S CAND1_uc001sto.2_Missense_Mutation_p.P403S NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 893 HEAT 21. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TGAATATCTGCCGTTTGTCCT 0.413000 LRRIQ1 84125 broad.mit.edu 37 12 85445956 85445956 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:85445956A>G uc001tac.2 + 7 791 c.680A>G c.(679-681)CAA>CGA p.Q227R LRRIQ1_uc001tab.1_Missense_Mutation_p.Q227R|LRRIQ1_uc001taa.1_Intron NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 227 Glu-rich. ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TATGTTCAGCAAGAACAGGAC 0.234000 ELK3 2004 broad.mit.edu 37 12 96641034 96641034 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:96641034C>A uc001teo.1 + 3 803 c.524C>A c.(523-525)CCC>CAC p.P175H NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 175 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) GACAGCCCCCCCGTGGAAGAA 0.582000 TMPO 7112 broad.mit.edu 37 12 98938068 98938068 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:98938068C>T uc001tfj.2 + 5 961 c.724C>T c.(724-726)CCT>TCT p.P242S TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 242 Nucleoplasmic (Potential).|NAKAP95-binding N. integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 AAAAGGCGGACCTCTGCAGGC 0.413000 UHRF1BP1L 23074 broad.mit.edu 37 12 100444003 100444003 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:100444003T>C uc001tgq.2 - 17 3890 c.3661A>G c.(3661-3663)ACA>GCA p.T1221A UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.T871A NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1221 ovary(2) 2 TGGTCTGGTGTCACCTGGTTC 0.353000 STAB2 55576 broad.mit.edu 37 12 104089412 104089412 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:104089412C>T uc001tjw.2 + 32 3646 c.3460C>T c.(3460-3462)CGG>TGG p.R1154W NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1154 Extracellular (Potential).|FAS1 4. 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 ovary(9)|skin(5) 14 TTCCATCTTCCGGGGCTACAT 0.512000 STAB2 55576 broad.mit.edu 37 12 104149134 104149134 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:104149134C>A uc001tjw.2 + 62 6955 c.6769C>A c.(6769-6771)CCC>ACC p.P2257T STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2257 Extracellular (Potential).|Link. 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 ovary(9)|skin(5) 14 GGTTGCCTACCCCACAGCCTT 0.567000 RFX4 5992 broad.mit.edu 37 12 106977126 106977126 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:106977126G>T uc001tlr.2 + 1 94 c.28G>T c.(28-30)GAC>TAC p.D10Y NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 10 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 GGAGGAACCCGACATGGATTC 0.552000 WSCD2 9671 broad.mit.edu 37 12 108620779 108620779 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:108620779G>A uc001tms.2 + 6 1561 c.817G>A c.(817-819)GCA>ACA p.A273T WSCD2_uc001tmt.2_Missense_Mutation_p.A273T|WSCD2_uc001tmu.2_Missense_Mutation_p.A21T NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 273 WSC 2. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GTACCCGCTGGCAGCTCTTGC 0.567000 WSCD2 9671 broad.mit.edu 37 12 108634185 108634185 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:108634185C>T uc001tms.2 + 8 1953 c.1209C>T c.(1207-1209)AGC>AGT p.S403S WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 403 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CGCACGAAAGCGGCCAGAAAG 0.607000 DTX1 1840 broad.mit.edu 37 12 113515234 113515234 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:113515234A>G uc001tuk.1 + 2 601 c.265A>G c.(265-267)ATG>GTG p.M89V NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 89 WWE 1. 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 lung(2)|ovary(1)|central_nervous_system(1) 4 TACAGGCACCATGCGGCCCGT 0.701000 KSR2 283455 broad.mit.edu 37 12 118198971 118198971 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:118198971C>T uc001two.2 - 4 799 c.744G>A c.(742-744)CCG>CCA p.P248P NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 277 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTCATGGGCGGCGTGCCCG 0.701000 TMEM132D 121256 broad.mit.edu 37 12 129559129 129559129 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:129559129T>G uc009zyl.1 - 9 2919 c.2591A>C c.(2590-2592)AAG>ACG p.K864T TMEM132D_uc001uia.2_Missense_Mutation_p.K402T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 864 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 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) GCCTTTCTTCTTCTGCAGGAT 0.572000 ULK1 8408 broad.mit.edu 37 12 132401007 132401007 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:132401007G>T uc001uje.2 + 20 2211 c.1943G>T c.(1942-1944)CGG>CTG p.R648L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 648 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CTCCTAGCCCGGCAGGGCGTG 0.677000 ULK1 8408 broad.mit.edu 37 12 132405868 132405868 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:132405868C>T uc001uje.2 + 28 3383 c.3115C>T c.(3115-3117)CGG>TGG p.R1039W NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 1039 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GTGCATTGAGCGGAGACTCTC 0.667000 EP400 57634 broad.mit.edu 37 12 132502083 132502083 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:132502083T>C uc001ujn.2 + 19 3962 c.3927T>C c.(3925-3927)ACT>ACC p.T1309T EP400_uc001ujl.2_Silent_p.T1308T|EP400_uc001ujm.2_Silent_p.T1309T NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1345 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 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) CGGGCAGCACTCAGGAGGCCT 0.592000 PGAM5 192111 broad.mit.edu 37 12 133294630 133294630 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:133294630G>A uc009zyv.2 + 5 670 c.643G>A c.(643-645)GCA>ACA p.A215T PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A215T NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 215 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) CATCCACCGCGCAGATGCCAG 0.622000 ANKLE2 23141 broad.mit.edu 37 12 133313524 133313524 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:133313524C>T uc001ukx.2 - 8 1615 c.1548G>A c.(1546-1548)CCG>CCA p.P516P ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.P454P NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 516 cytoplasm|integral to membrane|nuclear envelope 0 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) GGGTCAGTACCGGGTCTCTGG 0.617000 CRYL1 51084 broad.mit.edu 37 13 21006389 21006389 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:21006389G>A uc001une.2 - 5 564 c.485C>T c.(484-486)CCG>CTG p.P162L CRYL1_uc001unf.2_Missense_Mutation_p.P140L|CRYL1_uc001ung.2_Missense_Mutation_p.P140L|CRYL1_uc010tcp.1_Missense_Mutation_p.P36L NM_015974 NP_057058 Q9Y2S2 CRYL1_HUMAN lambda-crystallin 162 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity 0 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) GGCCGTCTCCGGGTGGGGGAC 0.592000 LATS2 26524 broad.mit.edu 37 13 21562308 21562308 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:21562308G>A uc009zzs.2 - 4 1976 c.1611C>T c.(1609-1611)TGC>TGT p.C537C LATS2_uc001unr.3_Silent_p.C537C NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 537 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCATGCCTGCGCACAGGCTGT 0.667000 FGF9 2254 broad.mit.edu 37 13 22246092 22246092 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:22246092A>G uc001uog.2 + 1 878 c.41A>G c.(40-42)CAG>CGG p.Q14R NM_002010 NP_002001 P31371 FGF9_HUMAN fibroblast growth factor 9 precursor 14 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding 0 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) TTCGGTGTGCAGGATGCGGTA 0.547000 SACS 26278 broad.mit.edu 37 13 23907766 23907766 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:23907766T>G uc001uon.2 - 10 10838 c.10249A>C c.(10249-10251)AGT>CGT p.S3417R SACS_uc001uoo.2_Missense_Mutation_p.S3270R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3417 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TAGCGGCCACTGATGGATTTA 0.368000 SACS 26278 broad.mit.edu 37 13 23911305 23911305 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:23911305T>C uc001uon.2 - 10 7299 c.6710A>G c.(6709-6711)GAA>GGA p.E2237G SACS_uc001uoo.2_Missense_Mutation_p.E2090G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2237 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAACATGGTTTCAGGCTTAAA 0.368000 PARP4 143 broad.mit.edu 37 13 25009030 25009030 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:25009030G>A uc001upl.2 - 31 4355 c.4249C>T c.(4249-4251)CCT>TCT p.P1417S NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1417 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AAGCCTCCAGGATGTTGCAGT 0.532000 RNF17 56163 broad.mit.edu 37 13 25399909 25399909 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:25399909C>T uc001upr.2 + 16 2285 c.2244C>T c.(2242-2244)ATC>ATT p.I748I RNF17_uc010tdd.1_Silent_p.I607I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.I748I|RNF17_uc001ups.2_Silent_p.I687I NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 748 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CAAAAGTTATCGGTAGGAGAA 0.368000 CENPJ 55835 broad.mit.edu 37 13 25484117 25484117 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:25484117G>A uc001upt.3 - 4 929 c.676C>T c.(676-678)CCA>TCA p.P226S CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 226 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TCCTGGGTTGGGTCCGGGTAG 0.473000 FRY 10129 broad.mit.edu 37 13 32783063 32783063 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:32783063G>A uc001utx.2 + 32 4588 c.4092G>A c.(4090-4092)CTG>CTA p.L1364L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1364 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCCCTGGCTGCACAACATCG 0.597000 BRCA2 675 broad.mit.edu 37 13 32931894 32931894 + Missense_Mutation SNP G G A rs80358990 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:32931894G>A uc001uub.1 + 16 7860 c.7633G>A c.(7633-7635)GTT>ATT p.V2545I NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2545 Interaction with FANCD2. 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 ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 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) TACGTATGGCGTTTCTAAACA 0.289000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) RFC3 5983 broad.mit.edu 37 13 34404030 34404030 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:34404030G>A uc001uuz.2 + 5 559 c.449G>A c.(448-450)AGA>AAA p.R150K RFC3_uc001uva.2_Missense_Mutation_p.R150K|RFC3_uc010ted.1_Missense_Mutation_p.R150K NM_002915 NP_002906 P40938 RFC3_HUMAN replication factor C 3 isoform 1 150 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding 0 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GCCTTGCGAAGAACCATGGAA 0.403000 NBEA 26960 broad.mit.edu 37 13 35923259 35923259 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:35923259C>T uc001uvb.2 + 37 6124 c.5918C>T c.(5917-5919)GCT>GTT p.A1973V NBEA_uc010abi.2_Missense_Mutation_p.A629V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1973 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 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) CTGTGCCATGCTATGAAGGAC 0.338000 FREM2 341640 broad.mit.edu 37 13 39262365 39262365 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:39262365G>T uc001uwv.2 + 1 1193 c.884G>T c.(883-885)AGC>ATC p.S295I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 295 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCTGTGGGCAGCCCTGCTTTG 0.612000 FREM2 341640 broad.mit.edu 37 13 39264188 39264188 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:39264188G>T uc001uwv.2 + 1 3016 c.2707G>T c.(2707-2709)GCC>TCC p.A903S NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 903 CSPG 5.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGTTTCCTATGCCCATAATGG 0.522000 KIAA0564 23078 broad.mit.edu 37 13 42149928 42149928 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:42149928A>G uc001uyj.2 - 43 5388 c.5318T>C c.(5317-5319)GTT>GCT p.V1773A NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1773 VWFA. extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) GTTCATTGGAACCAGACCAAT 0.358000 DNAJC15 29103 broad.mit.edu 37 13 43652796 43652796 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:43652796C>T uc001uyy.2 + 4 684 c.283C>T c.(283-285)CGA>TGA p.R95* NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 95 integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) AATGAGTAGGCGAGAAGCTGG 0.378000 SIAH3 283514 broad.mit.edu 37 13 46357608 46357608 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:46357608C>A uc001vap.2 - 2 802 c.720G>T c.(718-720)TCG>TCT p.S240S NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 240 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 GCTGTGCCAGCGAGGTGTTGA 0.612000 RCBTB2 1102 broad.mit.edu 37 13 49084818 49084818 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:49084818A>G uc001vch.2 - 10 1244 c.873T>C c.(871-873)ACT>ACC p.T291T RCBTB2_uc010tgg.1_Silent_p.T296T|RCBTB2_uc001vci.2_Silent_p.T267T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 291 RCC1 5. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) TTTTATTGCCAGTGCCCAACT 0.493000 THSD1 55901 broad.mit.edu 37 13 52951775 52951775 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:52951775G>T uc001vgo.2 - 5 2875 c.2330C>A c.(2329-2331)CCC>CAC p.P777H THSD1_uc001vgp.2_Missense_Mutation_p.P724H|THSD1_uc010tgz.1_Missense_Mutation_p.P398H|THSD1_uc010aea.2_Missense_Mutation_p.P238H NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 777 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 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) GGGGGATATGGGAGAAGACTG 0.537000 PCDH9 5101 broad.mit.edu 37 13 66878841 66878841 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:66878841C>T uc001vik.2 - 5 4352 c.3660G>A c.(3658-3660)AAG>AAA p.K1220K PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.K1186K|PCDH9_uc010thl.1_Silent_p.K1178K NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1220 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GCTTATAAGACTTCAGATTTG 0.433000 SLITRK1 114798 broad.mit.edu 37 13 84453981 84453981 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:84453981G>A uc001vlk.2 - 1 2548 c.1662C>T c.(1660-1662)AGC>AGT p.S554S NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 554 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACTTGAGGTCGCTCATCAGCA 0.537000 STK24 8428 broad.mit.edu 37 13 99134531 99134531 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:99134531G>T uc001vnm.1 - 3 589 c.354C>A c.(352-354)TCC>TCA p.S118S STK24_uc001vnn.1_Silent_p.S106S|STK24_uc010tim.1_Intron NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 118 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GATCTAGTGCGGAGCCTCCAC 0.318000 MYO16 23026 broad.mit.edu 37 13 109707413 109707413 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:109707413C>T uc001vqt.1 + 26 3128 c.3002C>T c.(3001-3003)ACT>ATT p.T1001I MYO16_uc010agk.1_Missense_Mutation_p.T1023I|MYO16_uc001vqu.1_Missense_Mutation_p.T801I|MYO16_uc010tjh.1_Missense_Mutation_p.T513I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1001 Myosin head-like 2. 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 ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 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) AAGAAAGGAACTTCTACATTT 0.279000 COL4A1 1282 broad.mit.edu 37 13 110804777 110804777 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:110804777G>A uc001vqw.3 - 51 4954 c.4832C>T c.(4831-4833)GCG>GTG p.A1611V COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1611 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 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) GATGAATGGCGCACTTCTAAA 0.582000 CARS2 79587 broad.mit.edu 37 13 111329449 111329449 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:111329449C>T uc001vrd.2 - 7 697 c.657G>A c.(655-657)GCG>GCA p.A219A CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 219 LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 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) TGTCAGAGTCCGCTGCAGATG 0.617000 MCF2L 23263 broad.mit.edu 37 13 113729379 113729379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:113729379C>T uc001vsu.2 + 11 1377 c.1355C>T c.(1354-1356)GCG>GTG p.A452V MCF2L_uc001vsq.2_Missense_Mutation_p.A452V|MCF2L_uc010tjr.1_Missense_Mutation_p.A395V|MCF2L_uc001vsr.2_Missense_Mutation_p.A399V|MCF2L_uc001vss.3_Missense_Mutation_p.A393V|MCF2L_uc010tjs.1_Missense_Mutation_p.A393V|MCF2L_uc001vst.1_Missense_Mutation_p.A357V NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 425 Spectrin. 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 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_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AAGCACTACGCGGTAGACTCC 0.657000 MCF2L 23263 broad.mit.edu 37 13 113748914 113748914 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:113748914G>A uc001vsu.2 + 27 3233 c.3211G>A c.(3211-3213)GCA>ACA p.A1071T MCF2L_uc001vsq.2_Missense_Mutation_p.A1071T|MCF2L_uc010tjr.1_Missense_Mutation_p.A1014T|MCF2L_uc001vsr.2_Missense_Mutation_p.A1018T|MCF2L_uc010tjs.1_Missense_Mutation_p.A1012T NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 1044 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|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 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_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTCGTCCGACGCAGAGGAGGA 0.622000 F7 2155 broad.mit.edu 37 13 113768258 113768258 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:113768258C>T uc001vsv.2 + 5 465 c.414C>T c.(412-414)GGC>GGT p.G138G F7_uc010agp.1_Silent_p.G131G|F7_uc001vsw.2_Silent_p.G116G|F7_uc010tjt.1_Silent_p.G69G NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 138 EGF-like 1; calcium-binding (Potential). G -> D (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 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_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCTTCGAGGGCCGGAACTGTG 0.632000 UPF3A 65110 broad.mit.edu 37 13 115048366 115048366 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:115048366C>T uc001vup.2 + 3 406 c.369C>T c.(367-369)GAC>GAT p.D123D UPF3A_uc010tkn.1_Silent_p.D123D|UPF3A_uc001vuq.2_Silent_p.D123D|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 123 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) ATCCTGATGACATCCTTCTTT 0.303000 RPGRIP1 57096 broad.mit.edu 37 14 21813344 21813344 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:21813344C>A uc001wag.2 + 22 3605 c.3605C>A c.(3604-3606)CCT>CAT p.P1202H RPGRIP1_uc001wah.2_Missense_Mutation_p.P844H|RPGRIP1_uc001wai.2_Missense_Mutation_p.P528H|RPGRIP1_uc001wak.2_Missense_Mutation_p.P677H|RPGRIP1_uc010aim.2_Missense_Mutation_p.P585H|RPGRIP1_uc001wal.2_Missense_Mutation_p.P561H|RPGRIP1_uc001wam.2_Missense_Mutation_p.P519H NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 1202 Interaction with RPGR. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GGACAAGATCCTGATCAAGGA 0.418000 CHD8 57680 broad.mit.edu 37 14 21876666 21876666 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:21876666C>T uc001was.1 - 13 1792 c.1698G>A c.(1696-1698)CAG>CAA p.Q566Q CHD8_uc001war.1_Silent_p.Q462Q|CHD8_uc001wav.1_Silent_p.Q8Q NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 845 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGGCAATGGACTGAATAGTTT 0.418000 RBM23 55147 broad.mit.edu 37 14 23374320 23374320 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:23374320T>C uc001whg.2 - 8 908 c.709A>G c.(709-711)ATT>GTT p.I237V RBM23_uc001whh.2_Missense_Mutation_p.I221V|RBM23_uc001whi.2_Missense_Mutation_p.I203V|RBM23_uc010tne.1_Missense_Mutation_p.I67V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.I237V NM_001077351 NP_001070819 Q86U06 RBM23_HUMAN RNA binding motif protein 23 isoform 1 237 RRM 1. mRNA processing nucleus nucleotide binding|RNA binding skin(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GCCTGTACAATGATAGGCACT 0.527000 HAUS4 54930 broad.mit.edu 37 14 23416890 23416890 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:23416890C>T uc001whp.2 - 7 790 c.759G>A c.(757-759)CGG>CGA p.R253R HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.R127R|HAUS4_uc001whr.2_Silent_p.R253R|HAUS4_uc001whs.2_Silent_p.R208R|HAUS4_uc001wht.2_Silent_p.R253R|HAUS4_uc001whu.2_Silent_p.R208R|HAUS4_uc001whv.2_Silent_p.R129R|HAUS4_uc001whw.2_Silent_p.R253R|HAUS4_uc001whx.2_Silent_p.R208R NM_017815 NP_060285 Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 253 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle ovary(1) 1 GAGTCTTCAGCCGGTGTTCTT 0.517000 MYH7 4625 broad.mit.edu 37 14 23897852 23897852 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:23897852T>C uc001wjx.2 - 15 1541 c.1435A>G c.(1435-1437)AAC>GAC p.N479D NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 479 Myosin head-like. N -> S (in CMH1). 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 ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTGGTGAAGTTGATGCAGAGC 0.547000 GMPR2 51292 broad.mit.edu 37 14 24707977 24707977 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:24707977C>T uc001wnr.2 + 10 1422 c.1040C>T c.(1039-1041)GCG>GTG p.A347V GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V NM_001002001 NP_001002001 Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 isoform 2 347 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding ovary(3) 3 GBM - Glioblastoma multiforme(265;0.0181) TTCAGTGAGGCGTGCTAGACC 0.542000 CIDEB 27141 broad.mit.edu 37 14 24774855 24774855 + Missense_Mutation SNP C C T rs146066890 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:24774855C>T uc001won.2 - 5 768 c.644G>A c.(643-645)CGC>CAC p.R215H CIDEB_uc001woo.2_Missense_Mutation_p.R215H|CIDEB_uc001wop.2_Missense_Mutation_p.R215H NM_014430 NP_055245 Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 215 apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis cytosol 0 GBM - Glioblastoma multiforme(265;0.0181) GGAATGGAGGCGGCCCTTCTG 0.562000 CBLN3 643866 broad.mit.edu 37 14 24897594 24897594 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:24897594G>A uc001wpg.3 - 2 789 c.318C>T c.(316-318)GGC>GGT p.G106G KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 106 Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q. cell junction|extracellular region|synapse central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) CAAAGCCACCGCCCTCGTTCA 0.632000 AKAP6 9472 broad.mit.edu 37 14 33293172 33293172 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:33293172C>T uc001wrq.2 + 13 6323 c.6153C>T c.(6151-6153)GCC>GCT p.A2051A NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 2051 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 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) AAAAAGATGCCGAAGATTGTT 0.418000 MIPOL1 145282 broad.mit.edu 37 14 37969313 37969313 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:37969313C>T uc001wuc.2 + 13 1735 c.1232C>T c.(1231-1233)GCC>GTC p.A411V MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.A380V|MIPOL1_uc001wud.2_Missense_Mutation_p.A411V|MIPOL1_uc010ams.2_Missense_Mutation_p.A411V|MIPOL1_uc001wue.2_Missense_Mutation_p.A380V|MIPOL1_uc010amt.2_Missense_Mutation_p.A230V NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 411 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) GCCAGAGAGGCCTCCCAAGTG 0.378000 C14orf106 55320 broad.mit.edu 37 14 45693641 45693641 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:45693641G>A uc001wwf.2 - 11 2608 c.2149C>T c.(2149-2151)CGT>TGT p.R717C NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 717 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 AGTAAGTCACGTTCATCGCAA 0.348000 MGAT2 4247 broad.mit.edu 37 14 50088877 50088877 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:50088877T>A uc001wwr.2 + 1 1389 c.891T>A c.(889-891)AGT>AGA p.S297R SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 297 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) ATAGTGCCAGTCGCAGTTTCT 0.478000 SDCCAG1 9147 broad.mit.edu 37 14 50267299 50267299 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:50267299T>C uc001wxc.2 - 23 2279 c.2211A>G c.(2209-2211)GAA>GAG p.E737E SDCCAG1_uc010anj.1_Silent_p.E737E|SDCCAG1_uc001wwz.2_5'Flank|SDCCAG1_uc001wxa.2_Silent_p.E17E|SDCCAG1_uc010tqi.1_Silent_p.E716E|SDCCAG1_uc001wxe.2_Silent_p.E695E|SDCCAG1_uc001wxd.1_Silent_p.E142E NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 737 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) CCTCATTTAGTTCATCTCTGC 0.418000 MAP4K5 11183 broad.mit.edu 37 14 50911877 50911877 + Silent SNP C C T rs75696839 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:50911877C>T uc001wya.2 - 18 1541 c.1221G>A c.(1219-1221)CCG>CCA p.P407P MAP4K5_uc001wyb.2_Silent_p.P407P|MAP4K5_uc010anv.1_Silent_p.P407P|MAP4K5_uc001wyc.1_Silent_p.P81P NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 407 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) TTTCTTCATCCGGAAAGTTGT 0.418000 NIN 51199 broad.mit.edu 37 14 51237224 51237224 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:51237224T>C uc001wym.2 - 12 1507 c.1316A>G c.(1315-1317)AAA>AGA p.K439R NIN_uc001wyi.2_Missense_Mutation_p.K439R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K439R|NIN_uc010tqp.1_Missense_Mutation_p.K445R|NIN_uc001wyo.2_Missense_Mutation_p.K439R|NIN_uc001wyp.1_Missense_Mutation_p.K401R NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 439 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CTCTCTCTCTTTTCGGAGTTC 0.448000 T PDGFRB MPD CDKN3 1033 broad.mit.edu 37 14 54886793 54886793 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:54886793A>G uc001xap.2 + 8 750 c.636A>G c.(634-636)AGA>AGG p.R212R CDKN3_uc001xar.2_Silent_p.R172R|CDKN3_uc001xaq.2_Silent_p.R211R|CDKN3_uc001xas.1_RNA|CDKN3_uc010aoj.1_RNA NM_005192 NP_005183 Q16667 CDKN3_HUMAN cyclin-dependent kinase inhibitor 3 isoform 1 212 cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity perinuclear region of cytoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 CTGTATCAAGATAAAGGAATT 0.318000 DAAM1 23002 broad.mit.edu 37 14 59821946 59821946 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:59821946T>C uc001xdz.1 + 21 2575 c.2450T>C c.(2449-2451)GTT>GCT p.V817A DAAM1_uc001xea.1_Missense_Mutation_p.V807A|DAAM1_uc001xec.1_RNA NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 817 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CTGGAGGTGGTTTTGGCATTT 0.388000 KCNH5 27133 broad.mit.edu 37 14 63269228 63269228 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:63269228T>G uc001xfx.2 - 9 1692 c.1641A>C c.(1639-1641)GAA>GAC p.E547D KCNH5_uc001xfy.2_Missense_Mutation_p.E547D|KCNH5_uc001xfz.1_Missense_Mutation_p.E489D NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 547 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AAGCAGGATGTTCATTAAAAA 0.488000 SYNE2 23224 broad.mit.edu 37 14 64519852 64519852 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:64519852A>G uc001xgm.2 + 48 9451 c.9221A>G c.(9220-9222)GAT>GGT p.D3074G SYNE2_uc001xgl.2_Missense_Mutation_p.D3074G|SYNE2_uc010apw.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3074 Cytoplasmic (Potential). 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 ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAGCTCCTGATAGCTCTCCG 0.338000 MTHFD1 4522 broad.mit.edu 37 14 64908801 64908801 + Silent SNP G G A rs143959060 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:64908801G>A uc001xhb.2 + 20 2301 c.1914G>A c.(1912-1914)CCG>CCA p.P638P MTHFD1_uc010aqf.2_Silent_p.P694P NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 638 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ATGCTGGCCCGTTTGCCAACA 0.512000 ACTN1 87 broad.mit.edu 37 14 69358883 69358883 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:69358883G>A uc001xkl.2 - 10 1283 c.973C>T c.(973-975)CCG>TCG p.P325S ACTN1_uc010ttb.1_Missense_Mutation_p.P260S|ACTN1_uc001xkm.2_Missense_Mutation_p.P325S|ACTN1_uc001xkn.2_Missense_Mutation_p.P325S|ACTN1_uc001xko.1_Missense_Mutation_p.P260S|ACTN1_uc010ttd.1_Missense_Mutation_p.P304S NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 325 Spectrin 1.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACCTTGGGCGGCTTGTGCAGG 0.627000 PCNX 22990 broad.mit.edu 37 14 71443908 71443908 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:71443908G>A uc001xmo.2 + 6 1300 c.854G>A c.(853-855)CGG>CAG p.R285Q PCNX_uc001xmn.3_Missense_Mutation_p.R285Q|PCNX_uc010are.1_Missense_Mutation_p.R285Q NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 285 integral to membrane ovary(1) 1 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) GGTGTACCACGGACTTCTAGC 0.468000 FAM164C 79696 broad.mit.edu 37 14 75537988 75537988 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:75537988C>T uc001xri.2 + 2 885 c.712C>T c.(712-714)CTG>TTG p.L238L FAM164C_uc001xrh.2_Silent_p.L238L NM_001042430 NP_001035895 Q53FD0 F164C_HUMAN chromosome 14 open reading frame 140 isoform b 238 Potential. ovary(1) 1 GAGGGGAAAGCTGAAGAAGAC 0.498000 VASH1 22846 broad.mit.edu 37 14 77242266 77242266 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:77242266C>T uc001xst.2 + 5 1492 c.562C>T c.(562-564)CGC>TGC p.R188C NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN vasohibin 1 188 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CACCCTGGAGCGCTTCCCCAT 0.632000 POMT2 29954 broad.mit.edu 37 14 77745128 77745128 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:77745128C>T uc001xti.2 - 19 2177 c.1976G>A c.(1975-1977)CGG>CAG p.R659Q POMT2_uc001xth.1_Missense_Mutation_p.R357Q NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 659 Helical; (Potential). protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GTAGAGGACCCGGCCCATCAG 0.602000 CALM1 801 broad.mit.edu 37 14 90870757 90870757 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:90870757G>A uc001xyl.1 + 5 522 c.320G>A c.(319-321)CGT>CAT p.R107H CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 107 EF-hand 3. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GCAGAACTACGTCACGTCATG 0.393000 GPR68 8111 broad.mit.edu 37 14 91700767 91700767 + Missense_Mutation SNP G G A rs146326486 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:91700767G>A uc001xzg.2 - 2 969 c.628C>T c.(628-630)CGC>TGC p.R210C GPR68_uc001xzh.2_Missense_Mutation_p.R220C NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 210 Cytoplasmic (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CGCACGGCGCGCAGGATGCCC 0.667000 FAM181A 90050 broad.mit.edu 37 14 94394712 94394712 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:94394712G>A uc001ybz.1 + 3 574 c.267G>A c.(265-267)AAG>AAA p.K89K C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.K27K|FAM181A_uc001yca.1_Silent_p.K27K NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 89 0 CCCTGGATAAGTCCGCACCCT 0.622000 SERPINA9 327657 broad.mit.edu 37 14 94933480 94933480 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:94933480T>C uc001ydf.2 - 3 1083 c.922A>G c.(922-924)ACA>GCA p.T308A SERPINA9_uc001yde.2_Missense_Mutation_p.T208A|SERPINA9_uc010avc.2_Missense_Mutation_p.T159A|SERPINA9_uc001ydg.2_Missense_Mutation_p.T272A|SERPINA9_uc001ydh.1_Missense_Mutation_p.T308A|SERPINA9_uc001ydi.1_Missense_Mutation_p.T272A NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 290 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 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) TTTCTCAGTGTTCTGGCTGAC 0.537000 GSC 145258 broad.mit.edu 37 14 95234924 95234924 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:95234924C>A uc001ydu.2 - 3 825 c.678G>T c.(676-678)TCG>TCT p.S226S NM_173849 NP_776248 P56915 GSC_HUMAN goosecoid 226 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CCGCGTTCTCCGACTCCTCTG 0.562000 KLC1 3831 broad.mit.edu 37 14 104135937 104135937 + Splice_Site SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:104135937T>G uc001yno.2 + 6 1193 c.885_splice c.e6+2 p.A295_splice KLC1_uc010tyd.1_Splice_Site_p.A454_splice|KLC1_uc010tye.1_Splice_Site_p.A291_splice|KLC1_uc001ynm.1_Splice_Site_p.A295_splice|KLC1_uc001ynn.1_Splice_Site_p.A289_splice|KLC1_uc010tyf.1_Splice_Site_p.A295_splice NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) CATCCTGCGGTTTGTATATCC 0.333000 INF2 64423 broad.mit.edu 37 14 105169515 105169515 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:105169515C>T uc001ypb.2 + 3 608 c.465C>T c.(463-465)CCC>CCT p.P155P INF2_uc010tyi.1_Silent_p.P155P|INF2_uc001ypc.2_Silent_p.P155P|INF2_uc001yoy.3_Silent_p.P155P|INF2_uc001ypa.2_Silent_p.P155P NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 155 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TCTACTCTCCCGAGGGCCACG 0.657000 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:105246551C>T uc001ypk.2 - 3 603 c.49G>A c.(49-51)GAG>AAG p.E17K INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(126) breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis breast|colorectal|ovarian|NSCLC NDN 4692 broad.mit.edu 37 15 23931740 23931740 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:23931740C>T uc001ywk.2 - 1 711 c.625G>A c.(625-627)GCC>ACC p.A209T NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 209 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 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) TTCCAGACGGCGCTCTCTCTG 0.637000 Prader-Willi_syndrome C15orf2 23742 broad.mit.edu 37 15 24923868 24923868 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:24923868T>C uc001ywo.2 + 1 3328 c.2854T>C c.(2854-2856)TAT>CAT p.Y952H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 952 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AACATCACCATATACTGCATT 0.483000 ATP10A 57194 broad.mit.edu 37 15 25926148 25926148 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:25926148G>T uc010ayu.2 - 18 3672 c.3566C>A c.(3565-3567)CCT>CAT p.P1189H NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1189 Helical; (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TACCAGGTAAGGAATGGAAAA 0.527000 SLC12A6 9990 broad.mit.edu 37 15 34543198 34543198 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:34543198G>T uc001zhw.2 - 10 1558 c.1394C>A c.(1393-1395)TCT>TAT p.S465Y SLC12A6_uc001zhv.2_Missense_Mutation_p.S414Y|SLC12A6_uc001zhx.2_Missense_Mutation_p.S450Y|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zib.2_Missense_Mutation_p.S456Y|SLC12A6_uc001zic.2_Missense_Mutation_p.S465Y|SLC12A6_uc010bau.2_Missense_Mutation_p.S465Y|SLC12A6_uc001zid.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.S277Y NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 465 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GACATCAGAAGATTTGGCTGA 0.438000 THBS1 7057 broad.mit.edu 37 15 39874463 39874463 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:39874463G>A uc001zkh.2 + 3 316 c.137G>A c.(136-138)CGC>CAC p.R46H NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 46 TSP N-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 ovary(3)|central_nervous_system(3) 6 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) GGGTCTGGGCGCCGACTGGTG 0.597000 GCHFR 2644 broad.mit.edu 37 15 41059498 41059498 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:41059498G>T uc001zmr.1 + 3 300 c.206G>T c.(205-207)AGC>ATC p.S69I GCHFR_uc010ucr.1_Missense_Mutation_p.S58I|C15orf62_uc010bby.2_5'Flank NM_005258 NP_005249 P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulatory 69 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane ovary(1) 1 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CGTGTGCTGAGCATGACGGGG 0.602000 VPS18 57617 broad.mit.edu 37 15 41192607 41192607 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:41192607C>T uc001zne.2 + 4 1930 c.1591C>T c.(1591-1593)CGC>TGC p.R531C NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 531 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CAGCAGCCCCCGCCACAAAGA 0.587000 RTF1 23168 broad.mit.edu 37 15 41769454 41769454 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:41769454G>A uc001zny.2 + 13 1664 c.1652G>A c.(1651-1653)CGC>CAC p.R551H NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 551 Potential. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GCCCTGGACCGCCAGCGGACC 0.542000 MGA 23269 broad.mit.edu 37 15 42040995 42040995 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:42040995T>C uc010ucy.1 + 16 5554 c.5373T>C c.(5371-5373)CCT>CCC p.P1791P MGA_uc010ucz.1_Silent_p.P1582P|MGA_uc010uda.1_Silent_p.P407P|MGA_uc001zoi.2_Silent_p.P5P NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTGCAGCCTGTTAGGAGTC 0.498000 MGA 23269 broad.mit.edu 37 15 42041014 42041014 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:42041014A>G uc010ucy.1 + 16 5573 c.5392A>G c.(5392-5394)ATG>GTG p.M1798V MGA_uc010ucz.1_Missense_Mutation_p.M1589V|MGA_uc010uda.1_Missense_Mutation_p.M414V|MGA_uc001zoi.2_Missense_Mutation_p.M12V NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCCAAGTGGAATGAACTTATT 0.493000 MAPKBP1 23005 broad.mit.edu 37 15 42110261 42110261 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:42110261T>C uc001zok.3 + 18 2263 c.1977T>C c.(1975-1977)GGT>GGC p.G659G MAPKBP1_uc001zoj.3_Silent_p.G653G|MAPKBP1_uc010bcj.2_Silent_p.G160G|MAPKBP1_uc010bci.2_Silent_p.G653G|MAPKBP1_uc010udb.1_Silent_p.G492G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G160G NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 659 WD 11. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 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) GGTCACAGGGTGAGGACGGCA 0.527000 PLA2G4D 283748 broad.mit.edu 37 15 42364044 42364044 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:42364044G>A uc001zox.2 - 15 1596 c.1501C>T c.(1501-1503)CTC>TTC p.L501F NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 501 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GAGCCGAAGAGCTCAGGAGGG 0.607000 TMEM87A 25963 broad.mit.edu 37 15 42529648 42529648 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:42529648G>A uc010udd.1 - 9 1009 c.850C>T c.(850-852)CGA>TGA p.R284* TMEM87A_uc001zpf.3_Nonsense_Mutation_p.R223*|TMEM87A_uc010bcu.1_Nonsense_Mutation_p.R223* NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 284 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) CCTTTGTATCGGATATTCTGA 0.418000 CDAN1 146059 broad.mit.edu 37 15 43025362 43025362 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:43025362G>A uc001zql.2 - 9 1507 c.1390C>T c.(1390-1392)CGA>TGA p.R464* CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 464 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TCCCACTCTCGCAGCACCTCA 0.547000 EPB42 2038 broad.mit.edu 37 15 43502556 43502556 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:43502556C>T uc001zra.3 - 5 931 c.631G>A c.(631-633)GTG>ATG p.V211M EPB42_uc001zqz.3_5'Flank|EPB42_uc010bde.2_Missense_Mutation_p.V56M|EPB42_uc001zrb.3_Missense_Mutation_p.V241M|EPB42_uc010udm.1_Missense_Mutation_p.V133M NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 211 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-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;8.7e-07) ACACGGGCCACGTGCACCGGC 0.597000 ZSCAN29 146050 broad.mit.edu 37 15 43662097 43662097 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:43662097T>C uc001zrk.1 - 1 162 c.15A>G c.(13-15)TCA>TCG p.S5S ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.S4S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.S4S|ZSCAN29_uc001zrm.2_Silent_p.S4S|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 5 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 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;8.97e-07) CTCTTAGAGCTGATTTGGCCA 0.522000 B2M 567 broad.mit.edu 37 15 45007851 45007851 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:45007851T>G uc001zuc.2 + 2 358 c.298T>G c.(298-300)TGC>GGC p.C100G B2M_uc010uek.1_Missense_Mutation_p.C100G|B2M_uc010bdx.1_Silent_p.P72P NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 100 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 ovary(2)|skin(1) 3 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) TGAGTATGCCTGCCGTGTGAA 0.418000 SLC28A2 9153 broad.mit.edu 37 15 45556153 45556153 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:45556153T>C uc001zva.2 + 6 586 c.521T>C c.(520-522)CTG>CCG p.L174P NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 174 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CCAGAGCAGCTGATCCCCTTT 0.498000 SPATA5L1 79029 broad.mit.edu 37 15 45706832 45706832 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:45706832G>T uc001zve.2 + 4 1607 c.1498G>T c.(1498-1500)GGA>TGA p.G500* SPATA5L1_uc001zvf.2_RNA NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 500 cytoplasm ATP binding|nucleoside-triphosphatase activity ovary(3)|skin(1) 4 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) ACAACCAAAGGGAGTTCTCCT 0.483000 FBN1 2200 broad.mit.edu 37 15 48773959 48773959 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:48773959A>G uc001zwx.1 - 32 4185 c.3857T>C c.(3856-3858)CTG>CCG p.L1286P NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1286 EGF-like 21; 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 ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATTTGGATTCAGGTCACACTC 0.378000 GLDN 342035 broad.mit.edu 37 15 51634172 51634172 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:51634172C>T uc002aba.2 + 1 460 c.291C>T c.(289-291)AGC>AGT p.S97S GLDN_uc010bez.1_Silent_p.S97S NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 97 Extracellular (Potential). cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GCAGCCACAGCGGCGAGCCCG 0.701000 MAPK6 5597 broad.mit.edu 37 15 52356198 52356198 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:52356198T>C uc002abp.2 + 6 1961 c.1167T>C c.(1165-1167)ACT>ACC p.T389T NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 389 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) CCGATGTCACTGATGAAGAAG 0.408000 MYO5C 55930 broad.mit.edu 37 15 52564028 52564028 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:52564028C>T uc010bff.2 - 7 901 c.764G>A c.(763-765)CGA>CAA p.R255Q MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 255 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GTGGTAATTTCGTTCATTTTC 0.368000 SLTM 79811 broad.mit.edu 37 15 59182562 59182562 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:59182562C>T uc002afp.2 - 15 2085 c.1997G>A c.(1996-1998)CGC>CAC p.R666H SLTM_uc002afn.2_Missense_Mutation_p.R208H|SLTM_uc002afo.2_Missense_Mutation_p.R648H|SLTM_uc002afq.2_Missense_Mutation_p.R235H|SLTM_uc010bgd.2_Missense_Mutation_p.R235H NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 666 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 AATTTCTAGGCGCTCTCTCTC 0.468000 ZNF609 23060 broad.mit.edu 37 15 64967127 64967127 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:64967127G>A uc002ann.2 + 4 2074 c.2074G>A c.(2074-2076)GCA>ACA p.A692T NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 692 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CGCCACAGTGGCACAAGCCAT 0.582000 RPL4 6124 broad.mit.edu 37 15 66792468 66792468 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:66792468A>G uc002apv.2 - 9 1020 c.964T>C c.(964-966)TTG>CTG p.L322L SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.L228L|RPL4_uc002apw.2_Silent_p.L228L|RPL4_uc002apx.2_Silent_p.L228L NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 322 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 ATGATTCTCAAGTTTTTCAGT 0.373000 LBXCOR1 390598 broad.mit.edu 37 15 68118334 68118334 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:68118334G>A uc002aqy.1 + 2 141 c.141G>A c.(139-141)TCG>TCA p.S47S NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 56 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 GCAGTTCCTCGCCCAACTCCA 0.637000 CORO2B 10391 broad.mit.edu 37 15 68987583 68987583 + Silent SNP G G A rs140380181 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:68987583G>A uc002arj.3 + 3 350 c.321G>A c.(319-321)TCG>TCA p.S107S CORO2B_uc010bic.2_Silent_p.S102S NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 107 WD 1. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 CCTCGTGCTCGGAGGACACGT 0.612000 SPESP1 246777 broad.mit.edu 37 15 69238906 69238906 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:69238906G>A uc002arn.1 + 2 1161 c.1033G>A c.(1033-1035)GCC>ACC p.A345T NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 345 multicellular organismal development acrosomal vesicle 0 GAGAGTCACAGCCttattaaa 0.269000 UACA 55075 broad.mit.edu 37 15 70960670 70960670 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:70960670A>T uc002asr.2 - 16 2457 c.2353T>A c.(2353-2355)TTG>ATG p.L785M UACA_uc010uke.1_Missense_Mutation_p.L676M|UACA_uc002asq.2_Missense_Mutation_p.L772M|UACA_uc010bin.1_Missense_Mutation_p.L760M NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 785 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TCCAGTAGCAATTTCTCCATT 0.333000 THSD4 79875 broad.mit.edu 37 15 72057527 72057527 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:72057527G>A uc002atb.1 + 15 2837 c.2758G>A c.(2758-2760)GAA>AAA p.E920K THSD4_uc002ate.2_Missense_Mutation_p.E560K|THSD4_uc002atg.1_Missense_Mutation_p.E123K NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 920 TSP type-1 6. proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 GTTTAGCACCGAATGGAGCAT 0.547000 CSPG4 1464 broad.mit.edu 37 15 75979694 75979694 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:75979694G>T uc002baw.2 - 3 3805 c.3712C>A c.(3712-3714)CCA>ACA p.P1238T NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1238 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AGCTTCAGTGGGGCCAGTGGG 0.622000 PSTPIP1 9051 broad.mit.edu 37 15 77328231 77328231 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:77328231C>A uc002bcf.2 + 14 1524 c.1074C>A c.(1072-1074)GCC>GCA p.A358A PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Silent_p.A349A|PSTPIP1_uc002bcg.2_Silent_p.A355A|PSTPIP1_uc010bkw.1_Silent_p.A339A|PSTPIP1_uc002bch.1_Silent_p.A119A|PSTPIP1_uc002bci.1_RNA NM_003978 NP_003969 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting 358 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity ovary(1) 1 GAAACCCGGCCTCACCAGCCC 0.622000 LINGO1 84894 broad.mit.edu 37 15 77907861 77907861 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:77907861G>A uc002bct.1 - 2 440 c.388C>T c.(388-390)CGC>TGC p.R130C LINGO1_uc002bcu.1_Missense_Mutation_p.R124C NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 130 Extracellular (Potential).|LRR 3. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 AGCTTCAGGCGGTTGCTGCGG 0.587000 C15orf26 161502 broad.mit.edu 37 15 81428869 81428869 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:81428869G>A uc002bgb.2 + 3 199 c.172G>A c.(172-174)GTA>ATA p.V58I C15orf26_uc010blp.1_Missense_Mutation_p.V33I NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 58 0 GCAACTTTCCGTAACTGAAGA 0.408000 C15orf42 90381 broad.mit.edu 37 15 90159667 90159667 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:90159667C>T uc002boe.2 + 16 2901 c.2901C>T c.(2899-2901)GCC>GCT p.A967A NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 967 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGAGTGTGGCCGAGACTCCAG 0.453000 PRC1 9055 broad.mit.edu 37 15 91527257 91527257 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:91527257C>T uc002bqm.2 - 3 415 c.258G>A c.(256-258)GAG>GAA p.E86E PRC1_uc002bqn.2_Silent_p.E86E|PRC1_uc002bqo.2_Silent_p.E86E|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Silent_p.E34E NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 86 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) CCTGAAATGGCTCAACATGTA 0.507000 SLCO3A1 28232 broad.mit.edu 37 15 92706126 92706126 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:92706126G>A uc002bqx.2 + 10 2095 c.1894G>A c.(1894-1896)GCG>ACG p.A632T SLCO3A1_uc002bqy.2_Missense_Mutation_p.A632T|SLCO3A1_uc002bqz.1_Missense_Mutation_p.A574T NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, 632 Helical; Name=12; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity skin(1) 1 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CATCGCCATCGCGCTCAAATC 0.557000 MCTP2 55784 broad.mit.edu 37 15 94901754 94901754 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:94901754A>T uc002btj.2 + 9 1279 c.1214A>T c.(1213-1215)GAC>GTC p.D405V MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.D405V|MCTP2_uc010boj.2_Missense_Mutation_p.D134V|MCTP2_uc010bok.2_Missense_Mutation_p.D405V|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 405 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GAACAGTTTGACTTTCACTAC 0.418000 IGF1R 3480 broad.mit.edu 37 15 99454553 99454553 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:99454553A>G uc002bul.2 + 7 1522 c.1472A>G c.(1471-1473)GAC>GGC p.D491G IGF1R_uc010urq.1_Missense_Mutation_p.D491G|IGF1R_uc010bon.2_Missense_Mutation_p.D491G|IGF1R_uc010urr.1_5'UTR NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 491 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGTGAAAGTGACGTCCTGCAT 0.537000 POLR3K 51728 broad.mit.edu 37 16 97531 97531 + Missense_Mutation SNP G G A rs144406744 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:97531G>A uc002cfi.1 - 3 265 c.226C>T c.(226-228)CGT>TGT p.R76C NM_016310 NP_057394 Q9Y2Y1 RPC10_HUMAN DNA directed RNA polymerase III polypeptide K 76 TFIIS-type. innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding 0 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AAGTAAGCACGAGGATGTTCG 0.468000 MRPL28 10573 broad.mit.edu 37 16 419103 419103 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:419103C>T uc002cgr.1 - 2 422 c.406G>A c.(406-408)GAT>AAT p.D136N MRPL28_uc010bqu.1_Missense_Mutation_p.D136N|MRPL28_uc002cgs.1_Missense_Mutation_p.D136N|MRPL28_uc002cgt.1_Missense_Mutation_p.D136N NM_006428 NP_006419 Q13084 RM28_HUMAN mitochondrial ribosomal protein L28 precursor 136 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) TAAGCCTCATCGATGAGGTCC 0.562000 NARFL 64428 broad.mit.edu 37 16 780438 780438 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:780438A>G uc002cjr.2 - 11 1422 c.1410T>C c.(1408-1410)ACT>ACC p.T470T NARFL_uc002cjp.2_Silent_p.T368T|NARFL_uc002cjq.2_Silent_p.T368T|NARFL_uc002cjs.2_Silent_p.T252T NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 470 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) TGCCCAGGCCAGTGCTGGCCT 0.642000 CRAMP1L 57585 broad.mit.edu 37 16 1705981 1705981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:1705981C>T uc010uvh.1 + 9 1223 c.1223C>T c.(1222-1224)CCG>CTG p.P408L CRAMP1L_uc002cmf.2_Intron NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 408 nucleus DNA binding 0 ACACTGACACCGCTGCCGGGC 0.642000 CEMP1 752014 broad.mit.edu 37 16 2581057 2581057 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:2581057A>G uc002cqr.2 - 1 374 c.18T>C c.(16-18)ACT>ACC p.T6T NM_001048212 NP_001041677 Q6PRD7 CEMP1_HUMAN cementum protein 1 6 cytoplasm skin(1) 1 GCTGGCTGTCAGTGCTTGATG 0.617000 ZNF200 7752 broad.mit.edu 37 16 3274246 3274246 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:3274246T>G uc002cuj.2 - 5 1466 c.834A>C c.(832-834)AAA>AAC p.K278N ZNF200_uc002cum.3_Missense_Mutation_p.K277N|ZNF200_uc010bti.2_Missense_Mutation_p.K277N|ZNF200_uc002cuk.2_Missense_Mutation_p.K278N|ZNF200_uc002cui.2_Missense_Mutation_p.K277N|ZNF200_uc002cul.3_Missense_Mutation_p.K277N NM_003454 NP_003445 P98182 ZN200_HUMAN zinc finger protein 200 isoform 1 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 AGTCATAGGGTTTTTCTCCAG 0.418000 TIGD7 91151 broad.mit.edu 37 16 3350127 3350127 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:3350127A>G uc002cus.2 - 1 1274 c.488T>C c.(487-489)ATA>ACA p.I163T ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 163 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CTCTTTGATTATCATGGACAG 0.269000 NLRC3 197358 broad.mit.edu 37 16 3614999 3614999 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:3614999G>A uc010btn.2 - 4 450 c.39C>T c.(37-39)GGC>GGT p.G13G NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 13 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CGTGGCCCTGGCCGGCCTCCC 0.687000 C16orf71 146562 broad.mit.edu 37 16 4786531 4786531 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:4786531A>G uc002cxn.2 + 2 478 c.16A>G c.(16-18)AAA>GAA p.K6E ANKS3_uc002cxj.1_5'Flank|ANKS3_uc002cxk.2_5'Flank|ANKS3_uc002cxl.2_5'Flank|ANKS3_uc010uxs.1_5'Flank|ANKS3_uc002cxm.2_5'Flank NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 6 central_nervous_system(1) 1 ATCCAACGATAAAGGCATGGC 0.617000 TEKT5 146279 broad.mit.edu 37 16 10788315 10788315 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:10788315C>T uc002czz.1 - 1 488 c.416G>A c.(415-417)CGG>CAG p.R139Q NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 139 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 GCCCAGGTTCCGGCAGGTGCC 0.617000 CLEC16A 23274 broad.mit.edu 37 16 11219940 11219940 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:11219940C>T uc002dao.2 + 22 2808 c.2578C>T c.(2578-2580)CGC>TGC p.R860C CLEC16A_uc002dan.3_Missense_Mutation_p.R842C|CLEC16A_uc002dap.2_5'UTR NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 860 ovary(1)|central_nervous_system(1) 2 CGACCAGGGGCGCCGGGGCAG 0.667000 TXNDC11 51061 broad.mit.edu 37 16 11785786 11785786 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:11785786C>T uc010buu.1 - 9 1403 c.1341G>A c.(1339-1341)GCG>GCA p.A447A TXNDC11_uc002dbg.1_Silent_p.A420A NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 447 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 AGCAGGGGGACGCTGTGATCG 0.642000 RSL1D1 26156 broad.mit.edu 37 16 11931765 11931765 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:11931765G>A uc002dbp.1 - 9 1425 c.1352C>T c.(1351-1353)GCG>GTG p.A451V RSL1D1_uc010buv.1_Missense_Mutation_p.A450V|RSL1D1_uc010uyw.1_Missense_Mutation_p.A231V NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 451 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 agtctgtctcgcatctttttt 0.179000 CDR2 1039 broad.mit.edu 37 16 22359037 22359037 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:22359037A>G uc002dkn.2 - 5 922 c.614T>C c.(613-615)TTG>TCG p.L205S NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 205 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) CTGGGCCTGCAACATTGTCAC 0.512000 HS3ST2 9956 broad.mit.edu 37 16 22825981 22825981 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:22825981C>T uc002dli.2 + 1 122 c.50C>T c.(49-51)GCG>GTG p.A17V HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 17 Cytoplasmic (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) CCGCGGAGGGCGCGCAGGCTG 0.706000 PLK1 5347 broad.mit.edu 37 16 23695280 23695280 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:23695280C>T uc002dlz.1 + 5 959 c.906C>T c.(904-906)GAC>GAT p.D302D NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 302 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) TGCTTAATGACGAGTTCTTTA 0.572000 CACNG3 10368 broad.mit.edu 37 16 24372780 24372780 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:24372780G>A uc002dmf.2 + 4 1744 c.544G>A c.(544-546)GGA>AGA p.G182R NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 182 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) CTTTTATTTCGGAGCCTTCTC 0.453000 AQP8 343 broad.mit.edu 37 16 25232874 25232874 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:25232874C>T uc002doc.2 + 3 439 c.357C>T c.(355-357)CTC>CTT p.L119L NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 119 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CACAGCTGCTCGGGGGGATGC 0.627000 NSMCE1 197370 broad.mit.edu 37 16 27237123 27237123 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:27237123G>A uc002doi.1 - 7 743 c.645C>T c.(643-645)TGC>TGT p.C215C NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 215 NSE1-type. DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 ACTTGGCCACGCAGGGTAAGT 0.587000 TUFM 7284 broad.mit.edu 37 16 28855798 28855798 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:28855798G>A uc002drh.2 - 6 898 c.759C>T c.(757-759)CCC>CCT p.P253P uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 250 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 GGTCCCGGGCGGGCACTGGGA 0.597000 SH2B1 25970 broad.mit.edu 37 16 28877939 28877939 + Missense_Mutation SNP C C T rs147094247 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:28877939C>T uc002dri.2 + 4 963 c.524C>T c.(523-525)ACC>ATC p.T175I uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.T175I|SH2B1_uc002drk.2_Missense_Mutation_p.T175I|SH2B1_uc002drl.2_Missense_Mutation_p.T175I|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.T175I|SH2B1_uc002drm.2_Missense_Mutation_p.T175I NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 175 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 TGGCGGGGGACCGTTGACCCT 0.647000 PPP4C 5531 broad.mit.edu 37 16 30096003 30096003 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30096003C>T uc002dwe.2 + 8 765 c.621C>T c.(619-621)GGC>GGT p.G207G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.G207G|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.G128G NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 207 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 CAGGCTGGGGCGTGAGCCCCC 0.627000 PPP4C 5531 broad.mit.edu 37 16 30096284 30096284 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30096284G>A uc002dwe.2 + 9 969 c.825G>A c.(823-825)CTG>CTA p.L275L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.L275L|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.L196L NM_002720 NP_002711 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 275 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity skin(1) 1 TCTTGGAGCTGGACGAGCATC 0.627000 TBX6 6911 broad.mit.edu 37 16 30097873 30097873 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30097873G>T uc010veh.1 - 8 1117 c.1057C>A c.(1057-1059)CCT>ACT p.P353T uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004608 NP_004599 O95947 TBX6_HUMAN T-box 6 353 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 AAAGCCGCAGGGTGCAGGAGG 0.687000 DCTPP1 79077 broad.mit.edu 37 16 30435737 30435737 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30435737G>A uc002dyf.2 - 3 402 c.330C>T c.(328-330)TGC>TGT p.C110C ZNF771_uc010bzx.2_Intron NM_024096 NP_077001 Q9H773 DCTP1_HUMAN dCTP pyrophosphatase 1 110 nucleoside triphosphate catabolic process cytosol dCTP diphosphatase activity|identical protein binding|magnesium ion binding 0 GATCCACACGGCAGCGGGCTG 0.612000 ITGAL 3683 broad.mit.edu 37 16 30529992 30529992 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30529992C>T uc002dyi.3 + 29 3356 c.3180C>T c.(3178-3180)AAC>AAT p.N1060N ITGAL_uc002dyj.3_Silent_p.N976N|ITGAL_uc010vev.1_Silent_p.N294N NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 1060 Extracellular (Potential). 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 ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) TCTCCTTCAACAGCAGCAAGC 0.607000 PRR14 78994 broad.mit.edu 37 16 30663120 30663120 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30663120G>A uc002dyy.2 + 3 285 c.27G>A c.(25-27)CCG>CCA p.P9P PRR14_uc002dyz.2_5'UTR|PRR14_uc002dza.2_Silent_p.P9P|PRR14_uc002dzb.1_5'Flank NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 9 0 Colorectal(24;0.103) CCTCCAGCCCGCCTGGCCAGC 0.682000 ITGAX 3687 broad.mit.edu 37 16 31374258 31374258 + Silent SNP C C T rs147426364 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:31374258C>T uc002ebu.1 + 13 1429 c.1362C>T c.(1360-1362)ATC>ATT p.I454I ITGAX_uc002ebt.2_Silent_p.I454I|ITGAX_uc010vfk.1_Silent_p.I104I NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 454 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCCTTCAGATCGGCTCCTACT 0.672000 ORC6L 23594 broad.mit.edu 37 16 46723639 46723639 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:46723639C>T uc002eeh.2 + 1 82 c.22C>T c.(22-24)CGC>TGC p.R8C VPS35_uc002eee.2_5'Flank|VPS35_uc002eef.3_5'Flank|ORC6L_uc002eeg.1_Missense_Mutation_p.R8C|ORC6L_uc010cbe.1_5'UTR NM_014321 NP_055136 Q9Y5N6 ORC6_HUMAN origin recognition complex subunit 6 8 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding 0 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCTGATCGGGCGCCTAGCCCC 0.711000 ABCC11 85320 broad.mit.edu 37 16 48201547 48201547 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:48201547C>A uc002eff.1 - 28 4266 c.3916G>T c.(3916-3918)GCC>TCC p.A1306S ABCC11_uc002efg.1_Missense_Mutation_p.A1306S|ABCC11_uc002efh.1_Missense_Mutation_p.A1268S|ABCC11_uc010cbg.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 1306 ABC transporter 2.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCAATGGAGGCTGTGGCTTCA 0.453000 Cerumen_Type CHD9 80205 broad.mit.edu 37 16 53243646 53243646 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:53243646A>T uc002ehb.2 + 2 1869 c.1705A>T c.(1705-1707)AGG>TGG p.R569W CHD9_uc002egy.2_Missense_Mutation_p.R569W|CHD9_uc002egz.1_Missense_Mutation_p.R569W|CHD9_uc002eha.1_Missense_Mutation_p.R569W|CHD9_uc002ehc.2_Missense_Mutation_p.R569W|CHD9_uc002ehd.2_Missense_Mutation_p.R95W NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 569 Lys-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) GAAAGGTAGAAGGATGAAATC 0.368000 FTO 79068 broad.mit.edu 37 16 53859941 53859941 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:53859941A>G uc002ehr.2 + 3 511 c.289A>G c.(289-291)ATC>GTC p.I97V FTO_uc010vha.1_Intron NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 97 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGTATCTCGCATCCTCATTGG 0.507000 CES1 1066 broad.mit.edu 37 16 55857555 55857555 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:55857555G>A uc002eim.2 - 4 551 c.443C>T c.(442-444)GCG>GTG p.A148V CES1_uc002eil.2_Missense_Mutation_p.A149V|CES1_uc002ein.2_Missense_Mutation_p.A148V NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 148 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GGTTGATGCCGCACCCACCAT 0.562000 CETP 1071 broad.mit.edu 37 16 57007277 57007277 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:57007277T>C uc002eki.2 + 9 842 c.785T>C c.(784-786)CTC>CCC p.L262P CETP_uc002ekj.2_Intron NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 262 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 TCAGAGGACCTCCCCCTCCCC 0.597000 CDH5 1003 broad.mit.edu 37 16 66436970 66436970 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:66436970C>T uc002eom.3 + 12 2409 c.2253C>T c.(2251-2253)TCC>TCT p.S751S NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 751 Cytoplasmic (Potential).|Ser-rich. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCGACTCATCCGACTCTGACG 0.622000 CES3 23491 broad.mit.edu 37 16 66997277 66997277 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:66997277C>T uc002eqt.2 + 2 351 c.278C>T c.(277-279)GCG>GTG p.A93V CES3_uc010cdz.2_Missense_Mutation_p.A93V|CES3_uc010cea.2_RNA NM_024922 NP_079198 Q6UWW8 EST3_HUMAN carboxylesterase 3 precursor 93 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity ovary(3)|central_nervous_system(2) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) GCCAGCACTGCGCCCCCAATG 0.647000 CES8 283848 broad.mit.edu 37 16 67043039 67043039 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67043039A>G uc002eqv.2 + 12 1513 c.1470A>G c.(1468-1470)CAA>CAG p.Q490Q CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.Q462Q|CES8_uc002eqx.2_Silent_p.Q366Q|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.Q462Q|CES8_uc002eqz.2_RNA NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 560 extracellular region carboxylesterase activity 0 AGCAGAGGCAATTCTAAGGGT 0.522000 FBXL8 55336 broad.mit.edu 37 16 67197591 67197591 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67197591C>T uc002erj.1 + 3 1113 c.993C>T c.(991-993)CGC>CGT p.R331R FBXL8_uc002erk.1_Silent_p.R331R|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank NM_018378 NP_060848 Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 331 protein binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) CGGCCCTGCGCGAGGTGCATT 0.721000 HSF4 3299 broad.mit.edu 37 16 67199648 67199648 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67199648G>A uc002erl.1 + 5 1224 c.259G>A c.(259-261)GAG>AAG p.E87K HSF4_uc002erm.1_Missense_Mutation_p.E87K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 87 By similarity. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGTGAGCATCGAGCAGGGCGG 0.731000 FHOD1 29109 broad.mit.edu 37 16 67265195 67265195 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67265195G>A uc002esl.2 - 17 2675 c.2563C>T c.(2563-2565)CGT>TGT p.R855C FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R662C NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 855 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GACTGTCGACGCACCGTGTCC 0.587000 FHOD1 29109 broad.mit.edu 37 16 67271645 67271645 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67271645C>T uc002esl.2 - 7 781 c.669G>A c.(667-669)CTG>CTA p.L223L FHOD1_uc010ced.2_Silent_p.L30L|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 223 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACAGCAGCTTCAGGGCTGTCT 0.567000 PLEKHG4 25894 broad.mit.edu 37 16 67318714 67318714 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:67318714G>A uc002eso.3 + 12 4326 c.1791G>A c.(1789-1791)AGG>AGA p.R597R PLEKHG4_uc002esp.3_Silent_p.R404R|PLEKHG4_uc002esq.3_Silent_p.R597R|PLEKHG4_uc010cef.2_Silent_p.R597R|PLEKHG4_uc002ess.3_Silent_p.R597R|PLEKHG4_uc010ceg.2_Silent_p.R516R NM_015432 NP_056247 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G 597 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) ACTGGACCAGGCACCCTGACT 0.682000 MARVELD3 91862 broad.mit.edu 37 16 71674810 71674810 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:71674810C>T uc002fau.2 + 3 1176 c.1113C>T c.(1111-1113)TAC>TAT p.Y371Y PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) TGATCATGTACGGCGCCAGCG 0.597000 ZFHX3 463 broad.mit.edu 37 16 72845891 72845891 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:72845891G>A uc002fck.2 - 6 4249 c.3576C>T c.(3574-3576)ACC>ACT p.T1192T ZFHX3_uc002fcl.2_Silent_p.T278T NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1192 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 ovary(2)|skin(2) 4 Ovarian(137;0.13) TGCGTTTGGAGGTTGCAGGAG 0.537000 CHST6 4166 broad.mit.edu 37 16 75512732 75512732 + Missense_Mutation SNP G G T rs144301922 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:75512732G>T uc002fef.2 - 3 1175 c.995C>A c.(994-996)GCC>GAC p.A332D CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A332D NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 332 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 ATGGCGCCAGGCCTGGGAGAC 0.642000 CHST5 23563 broad.mit.edu 37 16 75563452 75563452 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:75563452G>A uc002fei.2 - 3 2226 c.831C>T c.(829-831)GCC>GCT p.A277A CHST5_uc002fej.1_Silent_p.A283A NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 277 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TGAGTGTGGCGGCCTCGGCGA 0.711000 MAF 4094 broad.mit.edu 37 16 79633683 79633683 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:79633683G>A uc002ffn.2 - 1 940 c.117C>T c.(115-117)ACC>ACT p.T39T MAF_uc002ffm.2_Silent_p.T39T NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 39 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) TGATGCGGTCGGTCTCCACCG 0.602000 T IGH@ MM FBXO31 79791 broad.mit.edu 37 16 87367566 87367566 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:87367566C>T uc002fjw.2 - 8 1367 c.1323G>A c.(1321-1323)GGG>GGA p.G441G FBXO31_uc010vot.1_Silent_p.G269G|FBXO31_uc002fjv.2_Silent_p.G333G NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 441 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) GCTGCCCCTGCCCACACTGGG 0.692000 ACSF3 197322 broad.mit.edu 37 16 89169086 89169086 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:89169086C>T uc002fmp.2 + 4 1081 c.741C>T c.(739-741)GTC>GTT p.V247V ACSF3_uc010cig.1_Silent_p.V247V|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 247 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) TGCACCACGTCCATGGTGTGG 0.627000 SCARF1 8578 broad.mit.edu 37 17 1538416 1538416 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:1538416C>T uc002fsz.1 - 11 2179 c.2129G>A c.(2128-2130)CGC>CAC p.R710H SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R624H NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 710 Gly-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCAAAATGGCGGAAGACAGA 0.627000 SCARF1 8578 broad.mit.edu 37 17 1538421 1538421 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:1538421G>A uc002fsz.1 - 11 2174 c.2124C>T c.(2122-2124)GTC>GTT p.V708V SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.V622V NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 708 Gly-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AATGGCGGAAGACAGAGCGGA 0.622000 SERPINF2 5345 broad.mit.edu 37 17 1649113 1649113 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:1649113C>A uc002ftk.1 + 5 354 c.277C>A c.(277-279)CTG>ATG p.L93M SERPINF2_uc010vqr.1_Intron NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 93 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CACTGCCGACCTGTTCTCCCT 0.652000 RTN4RL1 146760 broad.mit.edu 37 17 1840945 1840945 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:1840945C>T uc002ftp.2 - 2 190 c.171G>A c.(169-171)GAG>GAA p.E57E NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 precursor 57 LRR 1. axon regeneration anchored to plasma membrane receptor activity 0 GGAAGACGCGCTCGCTGTCCA 0.647000 ATP2A3 489 broad.mit.edu 37 17 3833644 3833644 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:3833644T>C uc002fxb.1 - 18 2846 c.2695A>G c.(2695-2697)ATG>GTG p.M899V ATP2A3_uc010ckn.1_Missense_Mutation_p.M1V|ATP2A3_uc002fwx.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwy.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwz.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxa.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxc.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxd.1_Missense_Mutation_p.M899V NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 899 Helical; Name=8; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GACAAGGCCATGGTGGTGGGG 0.443000 SPNS3 201305 broad.mit.edu 37 17 4337322 4337322 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:4337322G>T uc002fxt.2 + 1 104 c.60G>T c.(58-60)CAG>CAT p.Q20H SPNS3_uc002fxu.2_5'UTR NM_182538 NP_872344 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 20 lipid transport|transmembrane transport integral to membrane large_intestine(1) 1 TGCAGGGCCAGTCCCCAGGGC 0.701000 ARRB2 409 broad.mit.edu 37 17 4620985 4620985 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:4620985C>T uc002fyj.2 + 7 651 c.423C>T c.(421-423)TGC>TGT p.C141C ARRB2_uc002fyk.2_Silent_p.C126C|ARRB2_uc002fyl.2_Silent_p.C141C|ARRB2_uc010vsg.1_Silent_p.C162C|ARRB2_uc002fym.2_Silent_p.C126C|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR NM_004313 NP_004304 P32121 ARRB2_HUMAN arrestin, beta 2 isoform 1 141 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding 0 CCGAGGCCTGCGGCGTAGACT 0.567000 CAMTA2 23125 broad.mit.edu 37 17 4883536 4883536 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:4883536C>T uc002gah.1 - 9 1189 c.1081G>A c.(1081-1083)GGC>AGC p.G361S CAMTA2_uc010cku.1_Missense_Mutation_p.G384S|CAMTA2_uc002gag.1_Missense_Mutation_p.G360S|CAMTA2_uc002gai.1_Missense_Mutation_p.G363S|CAMTA2_uc010ckv.1_Missense_Mutation_p.G8S|CAMTA2_uc010vsu.1_Missense_Mutation_p.G174S NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 361 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGCTCAGTGCCTACAACCACT 0.617000 NUP88 4927 broad.mit.edu 37 17 5292206 5292206 + Missense_Mutation SNP C C T rs149123666 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:5292206C>T uc002gbo.1 - 11 1585 c.1559G>A c.(1558-1560)CGT>CAT p.R520H NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R520H|NUP88_uc010cle.1_Missense_Mutation_p.R519H|NUP88_uc010vsy.1_Missense_Mutation_p.R520H NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 520 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 AGCCAGAACACGGAGGGGAGA 0.443000 NLGN2 57555 broad.mit.edu 37 17 7319413 7319413 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:7319413T>G uc002ggt.1 + 6 1694 c.1621T>G c.(1621-1623)TTC>GTC p.F541V NM_020795 NP_065846 Q8NFZ4 NLGN2_HUMAN neuroligin 2 precursor 541 Extracellular (Potential). cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1) 1 Prostate(122;0.157) CTGGACCAACTTCGCCAAGAC 0.512000 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) GCACAAACACGCACCTCAAAG 0.542000 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) ARHGEF15 22899 broad.mit.edu 37 17 8219453 8219453 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:8219453G>A uc002glc.2 + 9 1812 c.1691G>A c.(1690-1692)CGC>CAC p.R564H ARHGEF15_uc002gld.2_Missense_Mutation_p.R564H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R453H NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 564 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ACCCGGCTGCGCATGCTGCTG 0.662000 MYH1 4619 broad.mit.edu 37 17 10401084 10401084 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:10401084G>A uc002gmo.2 - 31 4426 c.4332C>T c.(4330-4332)GCC>GCT p.A1444A uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1444 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGTCCAGGGCGGCACAGGCAG 0.443000 TNFRSF13B 23495 broad.mit.edu 37 17 16843050 16843050 + Missense_Mutation SNP G G T rs145711865 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:16843050G>T uc002gqs.1 - 5 706 c.693C>A c.(691-693)AGC>AGA p.S231R TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S185R NM_012452 NP_036584 O14836 TR13B_HUMAN tumor necrosis factor receptor 13B 231 Cytoplasmic (Potential). cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity kidney(2) 2 GGAAGCAGAAGCTGCAGGTCT 0.687000 IgA_Deficiency_Selective RAI1 10743 broad.mit.edu 37 17 17700556 17700556 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:17700556C>A uc002grm.2 + 3 4763 c.4294C>A c.(4294-4296)CCG>ACG p.P1432T RAI1_uc002grn.1_Missense_Mutation_p.P1432T NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1432 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CTTCACATCCCCGGAGGCCCT 0.557000 LRRC48 83450 broad.mit.edu 37 17 17896209 17896209 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:17896209G>A uc010vxd.1 + 7 954 c.575G>A c.(574-576)CGC>CAC p.R192H LRRC48_uc002gsa.2_Missense_Mutation_p.R192H|LRRC48_uc010vxc.1_Missense_Mutation_p.R192H|LRRC48_uc002gsb.2_Missense_Mutation_p.R192H NM_001130090 NP_001123562 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 isoform a 192 LRRCT. cytoplasm pancreas(1) 1 all_neural(463;0.228) GACTACCGGCGCATTGATGAC 0.537000 MYO15A 51168 broad.mit.edu 37 17 18022183 18022183 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:18022183G>A uc010vxh.1 + 2 407 c.69G>A c.(67-69)CCG>CCA p.P23P NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 23 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) caccggagccggagaagCCCA 0.413000 MAPK7 5598 broad.mit.edu 37 17 19284193 19284193 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:19284193C>T uc002gvn.2 + 4 1057 c.671C>T c.(670-672)ACG>ATG p.T224M B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.T85M|MAPK7_uc002gvq.2_Missense_Mutation_p.T224M|MAPK7_uc002gvp.2_Missense_Mutation_p.T224M NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 224 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|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 cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TATGTGGCCACGCGCTGGTAC 0.542000 LGALS9 3965 broad.mit.edu 37 17 25967679 25967679 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:25967679C>T uc002gzp.2 + 3 331 c.213C>T c.(211-213)TAC>TAT p.Y71Y LGALS9_uc002gzq.2_Silent_p.Y71Y|LGALS9_uc002gzr.2_Silent_p.Y14Y|LGALS9_uc010waa.1_Silent_p.Y14Y|LGALS9_uc002gzs.2_Silent_p.Y71Y NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 71 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) ATGGAGGGTACGTGGTGTGCA 0.547000 SLC13A2 9058 broad.mit.edu 37 17 26816239 26816239 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:26816239A>G uc002hbh.2 + 2 177 c.110A>G c.(109-111)TAC>TGC p.Y37C SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.Y37C|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 37 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CAGGAGGCCTACTGCGCGTAT 0.597000 ALDOC 230 broad.mit.edu 37 17 26900833 26900833 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:26900833G>T uc002hbp.2 - 8 1064 c.919C>A c.(919-921)CAA>AAA p.Q307K PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.Q279K NM_005165 NP_005156 P09972 ALDOC_HUMAN fructose-bisphosphate aldolase C 307 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity ovary(1) 1 Lung NSC(42;0.00431) GCAGAGGCTTGCAGGGCACGC 0.612000 SUPT6H 6830 broad.mit.edu 37 17 27008285 27008285 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:27008285T>A uc002hby.2 + 12 1451 c.1361T>A c.(1360-1362)GTC>GAC p.V454D SUPT6H_uc010crt.2_Missense_Mutation_p.V454D NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 454 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CTCAAGGATGTCCAATCAATG 0.443000 GIT1 28964 broad.mit.edu 37 17 27905345 27905345 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:27905345G>A uc002hef.2 - 9 1069 c.855C>T c.(853-855)GAC>GAT p.D285D GIT1_uc002heg.2_Silent_p.D294D|GIT1_uc010wbg.1_Silent_p.D294D|GIT1_uc010csb.1_Silent_p.D285D NM_014030 NP_054749 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interactor 1 285 ARHGEF6-binding (By similarity).|PTK2-binding (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding 0 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GATCCACCTCGTCATACACGT 0.582000 CCDC55 84081 broad.mit.edu 37 17 28511844 28511844 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:28511844G>A uc002heu.2 + 7 857 c.829G>A c.(829-831)GAG>AAG p.E277K CCDC55_uc002hev.2_Missense_Mutation_p.E223K|CCDC55_uc010wbl.1_Missense_Mutation_p.E223K|CCDC55_uc010wbm.1_Missense_Mutation_p.E223K|CCDC55_uc002hex.2_Missense_Mutation_p.E223K NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 277 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 AGAGACCCCTGAGAATGACTT 0.493000 CDK5R1 8851 broad.mit.edu 37 17 30814811 30814811 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:30814811T>C uc002hhn.2 + 2 394 c.173T>C c.(172-174)GTG>GCG p.V58A CDK5R1_uc010wca.1_Missense_Mutation_p.V58A|CDK5R1_uc010ctc.2_5'Flank NM_003885 NP_003876 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 58 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) ATCGTGGCCGTGTCGGCCAAG 0.542000 UNC45B 146862 broad.mit.edu 37 17 33497136 33497136 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:33497136G>A uc002hja.2 + 12 1648 c.1551G>A c.(1549-1551)TGG>TGA p.W517* UNC45B_uc002hjb.2_Nonsense_Mutation_p.W517*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.W517*|UNC45B_uc010cto.2_Intron NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 517 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CTTCCAGGTGGCTGTGCAATA 0.602000 TBC1D3B 414059 broad.mit.edu 37 17 34493416 34493416 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:34493416C>T uc002hky.2 - 14 1759 c.1609G>A c.(1609-1611)GGC>AGC p.G537S NM_001001417 NP_001001417 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3B 537 intracellular Rab GTPase activator activity 0 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) aagtggaggccgcagaggcaa 0.393000 SYNRG 11276 broad.mit.edu 37 17 35937667 35937667 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:35937667T>C uc002hoa.2 - 7 717 c.634A>G c.(634-636)ACA>GCA p.T212A SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.T212A|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.T346A|SYNRG_uc010wdh.1_Missense_Mutation_p.T313A NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 212 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TGCCCAGATGTACTTATATCA 0.378000 PLXDC1 57125 broad.mit.edu 37 17 37226124 37226124 + Silent SNP C C T rs61742536 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:37226124C>T uc002hrg.2 - 13 1580 c.1368G>A c.(1366-1368)GCG>GCA p.A456A uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.A152A|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 456 Cytoplasmic (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 TGAAGAAGAGCGCAGCATTGG 0.612000 OREG0024368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PLXDC1 57125 broad.mit.edu 37 17 37243922 37243922 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:37243922C>T uc002hrg.2 - 8 1057 c.845G>A c.(844-846)CGC>CAC p.R282H uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 282 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 CAGCTCTATGCGGTGATATTC 0.542000 ERBB2 2064 broad.mit.edu 37 17 37866359 37866359 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:37866359G>T uc002hso.2 + 6 902 c.664G>T c.(664-666)GGT>TGT p.G222C ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 222 Extracellular (Potential). 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 lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 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) TGTCTGTGCCGGTGGCTGTGC 0.647000 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) GRB7 2886 broad.mit.edu 37 17 37902012 37902012 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:37902012T>C uc002hsr.2 + 12 1491 c.1241T>C c.(1240-1242)ATG>ACG p.M414T GRB7_uc002hss.2_Missense_Mutation_p.M414T|GRB7_uc010cwc.2_Missense_Mutation_p.M414T|GRB7_uc002hst.2_Missense_Mutation_p.M414T NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 414 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 lung(2)|ovary(1)|breast(1)|skin(1) 5 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) AGCCTGCCCATGCCAGCCTCC 0.637000 GSDMA 284110 broad.mit.edu 37 17 38126776 38126776 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:38126776A>C uc002htl.1 + 4 552 c.434A>C c.(433-435)GAT>GCT p.D145A GSDMA_uc002htm.1_Missense_Mutation_p.D145A NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 145 apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 GAGATGCAAGATCAAGGGGAG 0.587000 NR1D1 9572 broad.mit.edu 37 17 38252191 38252191 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:38252191G>T uc002htz.1 - 5 1380 c.754C>A c.(754-756)CCC>ACC p.P252T NR1D1_uc010cwq.1_Intron|NR1D1_uc010cwr.1_Intron NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 252 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) GGTGGCGAGGGGCCCATGGGG 0.657000 KRT24 192666 broad.mit.edu 37 17 38859493 38859493 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:38859493C>A uc002hvd.2 - 1 510 c.453G>T c.(451-453)TTG>TTT p.L151F NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 151 Rod.|Coil 1A. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) GGTAATTGGCCAAGCGGTCAT 0.522000 KRT13 3860 broad.mit.edu 37 17 39661394 39661394 + Missense_Mutation SNP G G A rs142183272 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:39661394G>A uc002hwu.1 - 1 472 c.409C>T c.(409-411)CGT>TGT p.R137C KRT13_uc002hwv.1_Missense_Mutation_p.R137C|KRT13_uc002hww.2_Missense_Mutation_p.R30C|KRT13_uc010wfr.1_Missense_Mutation_p.R30C|KRT13_uc010cxo.2_Missense_Mutation_p.R137C|KRT13_uc002hwx.1_Missense_Mutation_p.R125C NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 137 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) TGCCAGTCACGGATCTTCACC 0.597000 JUP 3728 broad.mit.edu 37 17 39925887 39925887 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:39925887C>T uc002hxq.2 - 3 528 c.251G>A c.(250-252)CGG>CAG p.R84Q JUP_uc010wfs.1_Missense_Mutation_p.R84Q|JUP_uc002hxr.2_Missense_Mutation_p.R84Q|JUP_uc002hxs.2_Missense_Mutation_p.R84Q NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 84 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CTCCCGCACCCGTTTGGCCCT 0.667000 STAT5B 6777 broad.mit.edu 37 17 40362289 40362289 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:40362289C>A uc002hzh.2 - 15 1975 c.1806G>T c.(1804-1806)CAG>CAT p.Q602H NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 602 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GGTCATGGGCCTGTTGCTTGT 0.483000 TUBG2 27175 broad.mit.edu 37 17 40815443 40815443 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:40815443C>T uc010wgr.1 + 6 784 c.528C>T c.(526-528)GAC>GAT p.D176D TUBG2_uc002iaq.2_Silent_p.D18D|TUBG2_uc002iar.2_Silent_p.D23D|TUBG2_uc002ias.2_Silent_p.D18D|TUBG2_uc002iap.2_Silent_p.D23D NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 176 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CCTACCAGGACGAGATGAGCG 0.512000 GRN 2896 broad.mit.edu 37 17 42430105 42430105 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:42430105G>A uc002igp.1 + 13 1940 c.1721G>A c.(1720-1722)CGC>CAC p.R574H GRN_uc002igr.1_3'UTR NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 574 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) AAGTGTTTGCGCAGGGAGGCC 0.662000 DBF4B 80174 broad.mit.edu 37 17 42824762 42824762 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:42824762C>T uc002ihf.2 + 12 1156 c.943C>T c.(943-945)CTT>TTT p.L315F DBF4B_uc002ihe.2_Missense_Mutation_p.L129F|DBF4B_uc010wjc.1_Missense_Mutation_p.L299F NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 315 DBF4-type. cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) CCGGCAGCATCTTCAGAGTGC 0.617000 STH 246744 broad.mit.edu 37 17 44076862 44076862 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:44076862A>G uc002ijy.2 + 1 247 c.217A>G c.(217-219)ATT>GTT p.I73V MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_001007532 NP_001007533 Q8IWL8 STH_HUMAN saitohin 73 cytoplasm|nucleus 0 TGTGGGCACCATTTGGCCCAG 0.537000 B4GALNT2 124872 broad.mit.edu 37 17 47233956 47233956 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:47233956C>T uc002ion.2 + 5 728 c.669C>T c.(667-669)CCC>CCT p.P223P B4GALNT2_uc010wlt.1_Silent_p.P137P|B4GALNT2_uc010wlu.1_Silent_p.P163P NM_153446 NP_703147 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 223 Lumenal (Potential). lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity large_intestine(1)|ovary(1) 2 all cancers(6;0.000316) CCGATGCCCCCGTCTATGAGG 0.572000 CACNA1G 8913 broad.mit.edu 37 17 48704077 48704077 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:48704077G>A uc002irk.1 + 38 7471 c.7099G>A c.(7099-7101)GGT>AGT p.G2367S CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 2367 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 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) GAGTCTCTCCGGTTTATCCTC 0.622000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CA10 56934 broad.mit.edu 37 17 49825029 49825029 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:49825029C>T uc002itw.3 - 4 1415 c.429G>A c.(427-429)TCG>TCA p.S143S CA10_uc002itu.3_Silent_p.S72S|CA10_uc002itv.3_Silent_p.S149S|CA10_uc002itx.3_Silent_p.S143S|CA10_uc002ity.3_Silent_p.S143S|CA10_uc002itz.2_Silent_p.S143S NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 143 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGAGGTGCTCCGACCCTTGGC 0.507000 RPS6KB1 6198 broad.mit.edu 37 17 58013600 58013600 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:58013600C>T uc002ixy.2 + 11 1106 c.1003C>T c.(1003-1005)CGT>TGT p.R335C RPS6KB1_uc010ddj.1_Missense_Mutation_p.R335C|RPS6KB1_uc010wom.1_Missense_Mutation_p.R282C|RPS6KB1_uc010won.1_Missense_Mutation_p.R312C|RPS6KB1_uc010woo.1_Missense_Mutation_p.R270C NM_003161 NP_003152 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 335 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity large_intestine(1) 1 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) TGCTGCTTCTCGTCTGGGAGC 0.398000 FTSJ3 117246 broad.mit.edu 37 17 61902275 61902275 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:61902275A>G uc002jbz.2 - 8 804 c.726T>C c.(724-726)GCT>GCC p.A242A FTSJ3_uc002jca.2_Silent_p.A242A|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 242 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 GGTCACCCTCAGCATAGCCTT 0.557000 SCN4A 6329 broad.mit.edu 37 17 62022940 62022940 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:62022940C>T uc002jds.1 - 19 3577 c.3500G>A c.(3499-3501)TGC>TAC p.C1167Y NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1167 III.|Helical; Name=S5 of repeat III; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GAAGATGAGGCAGACAAGCAG 0.577000 SCN4A 6329 broad.mit.edu 37 17 62050177 62050177 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:62050177G>T uc002jds.1 - 1 102 c.25C>A c.(25-27)CTG>ATG p.L9M NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 9 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGAGGCACCAGGGTGCACAGA 0.687000 SMURF2 64750 broad.mit.edu 37 17 62594568 62594568 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:62594568A>G uc002jep.1 - 3 520 c.132T>C c.(130-132)TCT>TCC p.S44S SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 44 C2. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) GGCATTGCCCAGATCCATCAA 0.338000 CCDC46 201134 broad.mit.edu 37 17 63923699 63923699 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:63923699C>T uc002jfl.2 - 19 2199 c.1980_splice c.e19+1 p.Q660_splice CCDC46_uc010deo.2_Splice_Site_p.Q402_splice|CCDC46_uc002jfm.2_Splice_Site_p.Q660_splice|CCDC46_uc010dep.2_Splice_Site_p.Q618_splice NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) GAAAGACCAACCTGTTGTTCA 0.308000 KPNA2 3838 broad.mit.edu 37 17 66040600 66040600 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:66040600C>T uc002jgk.2 + 9 1460 c.1328C>T c.(1327-1329)GCC>GTC p.A443V KPNA2_uc002jgl.2_Missense_Mutation_p.A443V NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 443 ARM 9. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ATCCTGGATGCCATTTCAAAT 0.383000 TMEM104 54868 broad.mit.edu 37 17 72832176 72832176 + Missense_Mutation SNP G G A rs142754433 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:72832176G>A uc002jls.3 + 10 1003 c.841G>A c.(841-843)GTC>ATC p.V281I TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V281I NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 281 Helical; (Potential). integral to membrane 0 all_lung(278;0.23) TGGGGTGTGCGTCTACTCCTT 0.622000 GRIN2C 2905 broad.mit.edu 37 17 72846360 72846360 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:72846360G>A uc002jlt.1 - 6 1632 c.1476C>T c.(1474-1476)AAC>AAT p.N492N GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.N492N NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 492 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CAATCATGCCGTTCCATACGC 0.622000 OTOP3 347741 broad.mit.edu 37 17 72942899 72942899 + Missense_Mutation SNP C C T rs147825590 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:72942899C>T uc010wrr.1 + 6 949 c.949C>T c.(949-951)CGC>TGC p.R317C OTOP3_uc010wrq.1_Missense_Mutation_p.R299C NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 317 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) GAACGTGGGCCGCCACGTGGC 0.637000 CASKIN2 57513 broad.mit.edu 37 17 73500034 73500034 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:73500034C>T uc002joc.2 - 15 2027 c.1477G>A c.(1477-1479)GCC>ACC p.A493T CASKIN2_uc010wsc.1_Missense_Mutation_p.A411T NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 493 SAM 1. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTATGAATGGCCTGCGCGTCC 0.632000 ACOX1 51 broad.mit.edu 37 17 73947567 73947567 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:73947567C>T uc002jqf.2 - 8 1326 c.1036G>A c.(1036-1038)GCA>ACA p.A346T ACOX1_uc010wsq.1_Missense_Mutation_p.A308T|ACOX1_uc002jqe.2_Missense_Mutation_p.A346T|ACOX1_uc010wsr.1_Missense_Mutation_p.A278T NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 346 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 TTCATGTATGCGCCCACAAAC 0.488000 EVPL 2125 broad.mit.edu 37 17 74005246 74005246 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:74005246G>A uc002jqi.2 - 22 4268 c.4040C>T c.(4039-4041)GCG>GTG p.A1347V EVPL_uc010wss.1_Missense_Mutation_p.A1369V|EVPL_uc010wst.1_Missense_Mutation_p.A817V NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1347 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 CGCGTCCTCCGCGGCCCGCCT 0.677000 MGAT5B 146664 broad.mit.edu 37 17 74921064 74921064 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:74921064C>T uc002jti.2 + 8 1178 c.1075C>T c.(1075-1077)CCA>TCA p.P359S MGAT5B_uc002jth.2_Missense_Mutation_p.P348S NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 348 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 AGGGGTACCGCCAGGCCGGGG 0.612000 BIRC5 332 broad.mit.edu 37 17 76219627 76219627 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:76219627A>G uc002jvg.2 + 4 542 c.421A>G c.(421-423)ATG>GTG p.M141V BIRC5_uc002jvf.2_Missense_Mutation_p.M164V|BIRC5_uc002jvh.2_Silent_p.P101P|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA NM_001168 NP_001159 O15392 BIRC5_HUMAN baculoviral IAP repeat-containing protein 5 141 anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) GCTGGCTGCCATGGATTGAGG 0.547000 PGS1 9489 broad.mit.edu 37 17 76400143 76400143 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:76400143C>T uc002jvm.2 + 7 1387 c.1375C>T c.(1375-1377)CGG>TGG p.R459W PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R172W|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R172W NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 459 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) GGAGTACTGGCGGAGGGGCTG 0.657000 RNF213 57674 broad.mit.edu 37 17 78320622 78320622 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:78320622G>A uc002jyh.1 + 4 2929 c.2706G>A c.(2704-2706)CAG>CAA p.Q902Q NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCCGCTTTCAGCAGGGGAAGG 0.627000 BAIAP2 10458 broad.mit.edu 37 17 79060288 79060288 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:79060288G>A uc002jzg.2 + 6 505 c.397G>A c.(397-399)GCC>ACC p.A133T BAIAP2_uc002jyz.3_Missense_Mutation_p.A133T|BAIAP2_uc002jza.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzc.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzf.2_Missense_Mutation_p.A133T|BAIAP2_uc002jze.2_Missense_Mutation_p.A166T|BAIAP2_uc010wuh.1_Missense_Mutation_p.A55T|BAIAP2_uc002jzh.2_Missense_Mutation_p.A134T NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 133 IMD.|Potential. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CAAAGGCGACGCCCTGGACAA 0.537000 BAIAP2 10458 broad.mit.edu 37 17 79078359 79078359 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:79078359T>C uc002jzg.2 + 10 1220 c.1112T>C c.(1111-1113)CTG>CCG p.L371P BAIAP2_uc002jyz.3_Missense_Mutation_p.L371P|BAIAP2_uc002jza.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzc.2_Missense_Mutation_p.L372P|BAIAP2_uc002jzb.2_Missense_Mutation_p.L128P|BAIAP2_uc002jzd.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzf.2_Missense_Mutation_p.L371P|BAIAP2_uc002jze.2_Missense_Mutation_p.L404P|BAIAP2_uc010wuh.1_Missense_Mutation_p.L293P|BAIAP2_uc002jzh.2_Missense_Mutation_p.L372P|BAIAP2_uc010wui.1_Missense_Mutation_p.L234P NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 371 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCAGCCGGCCTGGAGCGCAAT 0.637000 DUS1L 64118 broad.mit.edu 37 17 80017900 80017900 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:80017900G>A uc002kdq.2 - 10 1511 c.1092C>T c.(1090-1092)GGC>GGT p.G364G DUS1L_uc002kdp.2_Silent_p.G233G|DUS1L_uc002kdr.2_Silent_p.G364G|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 364 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGACCTCCGTGCCACCCTCCT 0.642000 TBCD 6904 broad.mit.edu 37 17 80828180 80828180 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:80828180G>A uc002kfz.2 + 14 1529 c.1399G>A c.(1399-1401)GCC>ACC p.A467T TBCD_uc002kfx.1_Missense_Mutation_p.A450T|TBCD_uc002kfy.1_Missense_Mutation_p.A467T NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 467 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CAGGGACGCCGCCTGCTACGT 0.612000 LAMA1 284217 broad.mit.edu 37 18 6942108 6942108 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:6942108G>A uc002knm.2 - 63 9292 c.9198C>T c.(9196-9198)TTC>TTT p.F3066F LAMA1_uc002knk.2_Silent_p.F396F|LAMA1_uc002knl.2_Silent_p.F519F|LAMA1_uc010wzj.1_Silent_p.F2542F NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 3066 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAATGAAGGAAAACTCCGT 0.478000 LAMA1 284217 broad.mit.edu 37 18 6949117 6949117 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:6949117C>T uc002knm.2 - 59 8633 c.8539G>A c.(8539-8541)GCC>ACC p.A2847T LAMA1_uc002knk.2_Missense_Mutation_p.A177T|LAMA1_uc002knl.2_Missense_Mutation_p.A300T|LAMA1_uc010wzj.1_Missense_Mutation_p.A2323T NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2847 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTTTCCTGGCCTGGTACTGG 0.493000 LAMA1 284217 broad.mit.edu 37 18 6985243 6985243 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:6985243G>T uc002knm.2 - 39 5747 c.5653C>A c.(5653-5655)CTG>ATG p.L1885M LAMA1_uc010wzj.1_Missense_Mutation_p.L1361M NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1885 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACCTGTACAGAACATCTGCT 0.488000 LAMA1 284217 broad.mit.edu 37 18 7014008 7014008 + Missense_Mutation SNP C C T rs141907708 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:7014008C>T uc002knm.2 - 23 3263 c.3169G>A c.(3169-3171)GAT>AAT p.D1057N LAMA1_uc010wzj.1_Missense_Mutation_p.D533N NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1057 Laminin EGF-like 12. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGACCACATCGCACCGATGA 0.517000 LAMA1 284217 broad.mit.edu 37 18 7049221 7049221 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:7049221A>G uc002knm.2 - 5 718 c.624T>C c.(622-624)GCT>GCC p.A208A LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 208 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAGATCGTCAGCGCTTGGTC 0.368000 KIAA0802 23255 broad.mit.edu 37 18 8718506 8718506 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:8718506C>T uc002knr.2 + 3 200 c.58C>T c.(58-60)CGG>TGG p.R20W KIAA0802_uc002knq.2_Missense_Mutation_p.R20W NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 371 Potential. 0 GCAGGAACTTCGGCGAGAACT 0.488000 ANKRD12 23253 broad.mit.edu 37 18 9258243 9258243 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:9258243C>T uc002knv.2 + 9 5235 c.4978C>T c.(4978-4980)CCA>TCA p.P1660S ANKRD12_uc002knw.2_Missense_Mutation_p.P1637S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1637S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1367S NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1660 nucleus ovary(2)|central_nervous_system(1) 3 TGCAGGGATGCCAAAAGGAAA 0.348000 RALBP1 10928 broad.mit.edu 37 18 9517240 9517240 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:9517240T>C uc002kob.2 + 3 865 c.642T>C c.(640-642)CGT>CGC p.R214R RALBP1_uc002koc.2_Silent_p.R214R NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 214 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 CCGTTTTCCGTGAATGTATAG 0.418000 FAM38B 63895 broad.mit.edu 37 18 10677801 10677801 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:10677801C>T uc002kor.3 - 11 1696 c.1556G>A c.(1555-1557)CGA>CAA p.R519Q FAM38B_uc002koq.2_Missense_Mutation_p.R354Q NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2562 integral to membrane ion channel activity ovary(1) 1 GATATTCTTTCGAGTAATATT 0.323000 TUBB6 84617 broad.mit.edu 37 18 12325183 12325183 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:12325183G>A uc002kqw.2 + 4 440 c.395G>A c.(394-396)GGC>GAC p.G132D TUBB6_uc002kqv.2_Missense_Mutation_p.G60D|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.G95D|TUBB6_uc002kqy.2_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 132 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) TGCCTGCAGGGCTTCCAGCTC 0.657000 C18orf19 125228 broad.mit.edu 37 18 13682063 13682063 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:13682063A>G uc010dlh.2 - 3 446 c.14T>C c.(13-15)GTA>GCA p.V5A C18orf19_uc010dlg.2_Missense_Mutation_p.V5A|C18orf19_uc010dli.2_Missense_Mutation_p.V5A|C18orf19_uc002ksj.3_Missense_Mutation_p.V5A|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 5 integral to membrane breast(2) 2 AGTCCGTGGTACATTCCATTG 0.368000 ZNF521 25925 broad.mit.edu 37 18 22669475 22669475 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:22669475T>A uc002kvk.2 - 7 4107 c.3860A>T c.(3859-3861)GAC>GTC p.D1287V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D1287V|ZNF521_uc002kvl.2_Missense_Mutation_p.D1067V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1287 C2H2-type 30. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTGTACAGTCATAGATCTT 0.398000 T PAX5 ALL ZNF521 25925 broad.mit.edu 37 18 22806621 22806621 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:22806621G>T uc002kvk.2 - 4 1508 c.1261C>A c.(1261-1263)CTG>ATG p.L421M ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L421M|ZNF521_uc002kvl.2_Missense_Mutation_p.L201M NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 421 C2H2-type 9; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGAATCTGCAGAACTGCAAGA 0.413000 T PAX5 ALL SLC39A6 25800 broad.mit.edu 37 18 33704629 33704629 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:33704629C>T uc010dmy.2 - 3 1114 c.824G>A c.(823-825)GGC>GAC p.G275D SLC39A6_uc002kzj.2_5'UTR NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 275 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 GATGCCCATGCCATGAGATGT 0.418000 MOCOS 55034 broad.mit.edu 37 18 33795561 33795561 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:33795561C>T uc002kzq.3 + 8 1441 c.1418C>T c.(1417-1419)TCG>TTG p.S473L NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 473 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GGATACATGTCGACGCTGGAT 0.537000 FHOD3 80206 broad.mit.edu 37 18 34156416 34156416 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:34156416T>C uc002kzt.1 + 6 611 c.514T>C c.(514-516)TTG>CTG p.L172L FHOD3_uc002kzr.1_Silent_p.L172L|FHOD3_uc002kzs.1_Silent_p.L172L|FHOD3_uc002kzu.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 172 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TTCTGTAGCTTTGGGCCAGAT 0.358000 FHOD3 80206 broad.mit.edu 37 18 34340622 34340622 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:34340622C>T uc002kzt.1 + 22 3998 c.3901C>T c.(3901-3903)CTG>TTG p.L1301L FHOD3_uc002kzs.1_Silent_p.L1318L|FHOD3_uc010dmz.1_Silent_p.L1033L|FHOD3_uc010dnb.1_Intron NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1301 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GCCGCAGGGTCTGAGCTATGC 0.637000 CELF4 56853 broad.mit.edu 37 18 34833784 34833784 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:34833784C>T uc002lae.2 - 12 1847 c.1451G>A c.(1450-1452)CGC>CAC p.R484H CELF4_uc010dnd.1_Missense_Mutation_p.R482H|CELF4_uc002lag.2_Missense_Mutation_p.R446H|CELF4_uc002laf.2_Missense_Mutation_p.R478H NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 484 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TCAGTACGGGCGATTGGCGTC 0.592000 KIAA1632 57724 broad.mit.edu 37 18 43481065 43481065 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:43481065C>T uc002lbm.2 - 26 4642 c.4542G>A c.(4540-4542)CCG>CCA p.P1514P KIAA1632_uc010xcq.1_Silent_p.P68P|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.P389P NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1514 autophagy 0 GAGGCTTCGTCGGGTGCAGAG 0.498000 MRO 83876 broad.mit.edu 37 18 48333094 48333094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:48333094C>T uc002lew.3 - 4 520 c.226G>A c.(226-228)GCC>ACC p.A76T MRO_uc010xdn.1_Missense_Mutation_p.A76T|MRO_uc010dpa.2_Missense_Mutation_p.A90T|MRO_uc010dpb.2_Missense_Mutation_p.A90T|MRO_uc010dpc.2_Missense_Mutation_p.A76T|MRO_uc002lex.3_Missense_Mutation_p.A76T NM_031939 NP_114145 Q9BYG7 MSTRO_HUMAN maestro isoform a 76 nucleolus binding 0 Colorectal(6;0.0596) Colorectal(21;0.082) GCTTCATAGGCCATGGTTCCC 0.557000 DCC 1630 broad.mit.edu 37 18 51013231 51013231 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:51013231T>A uc002lfe.1 + 26 4388 c.3801T>A c.(3799-3801)TCT>TCA p.S1267S DCC_uc010dpf.1_Silent_p.S902S NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1267 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCCTCCCGTCTCCCACCTGTG 0.547000 CDH20 28316 broad.mit.edu 37 18 59206270 59206270 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:59206270G>T uc010dps.1 + 8 1434 c.1422G>T c.(1420-1422)CAG>CAT p.Q474H CDH20_uc002lif.2_Missense_Mutation_p.Q468H NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 474 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) ATCCCTCCCAGGTTGGAAGTG 0.408000 RTTN 25914 broad.mit.edu 37 18 67817279 67817279 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:67817279T>C uc002lkp.2 - 16 2168 c.2100A>G c.(2098-2100)GGA>GGG p.G700G RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 700 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TCATCAATCGTCCCTGAAGCA 0.438000 ZNF407 55628 broad.mit.edu 37 18 72589255 72589255 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:72589255G>A uc002llw.2 + 4 5037 c.4980G>A c.(4978-4980)TGG>TGA p.W1660* ZNF407_uc010dqu.1_Nonsense_Mutation_p.W1660* NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 1660 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AATGTACCTGGCCCACGTGCC 0.522000 NFATC1 4772 broad.mit.edu 37 18 77170867 77170867 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:77170867G>A uc010xfg.1 + 2 1045 c.592G>A c.(592-594)GCG>ACG p.A198T NFATC1_uc002lnc.1_Missense_Mutation_p.A198T|NFATC1_uc010xff.1_Missense_Mutation_p.A198T|NFATC1_uc002lnd.2_Missense_Mutation_p.A198T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198T|NFATC1_uc010xfi.1_Missense_Mutation_p.A185T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185T|NFATC1_uc002lng.2_Missense_Mutation_p.A185T|NFATC1_uc010xfk.1_Missense_Mutation_p.A185T NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 198 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GTACCCGTACGCGTCCCCCCA 0.677000 PTBP1 5725 broad.mit.edu 37 19 805056 805056 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:805056G>A uc002lpr.2 + 8 867 c.761G>A c.(760-762)CGC>CAC p.R254H PTBP1_uc002lpp.2_Missense_Mutation_p.R254H|PTBP1_uc002lpq.2_Missense_Mutation_p.R254H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R224H NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 254 RRM 2. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 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) TGCACGCTGCGCATCGACTTT 0.647000 PTBP1 5725 broad.mit.edu 37 19 808629 808629 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:808629C>T uc002lpr.2 + 12 1358 c.1252C>T c.(1252-1254)CGC>TGC p.R418C PTBP1_uc002lpp.2_Missense_Mutation_p.R444C|PTBP1_uc002lpq.2_Missense_Mutation_p.R437C|PTBP1_uc002lps.2_Missense_Mutation_p.R84C|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R414C NM_031991 NP_114368 P26599 PTBP1_HUMAN polypyrimidine tract-binding protein 1 isoform 418 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding kidney(1)|skin(1) 2 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) GCAGCTGCCCCGCGAGGGCCA 0.637000 SBNO2 22904 broad.mit.edu 37 19 1109760 1109760 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:1109760G>A uc002lrk.3 - 27 3283 c.3045C>T c.(3043-3045)ATC>ATT p.I1015I SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.I958I|SBNO2_uc010dse.2_Silent_p.I998I|SBNO2_uc010xgj.1_Intron NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 isoform 1 1015 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) AGATCTCCTCGATACCGGGAG 0.677000 MIDN 90007 broad.mit.edu 37 19 1257102 1257102 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:1257102G>A uc002lrp.2 + 8 1753 c.1238G>A c.(1237-1239)CGG>CAG p.R413Q NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 413 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CGGGACGCGCGGGGTCCGTAC 0.711000 MUM1 84939 broad.mit.edu 37 19 1362336 1362336 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:1362336T>C uc010xgm.1 + 5 1268 c.1199T>C c.(1198-1200)GTC>GCC p.V400A MUM1_uc010dsi.2_Missense_Mutation_p.V332A|MUM1_uc002lrz.2_Missense_Mutation_p.V401A|MUM1_uc002lsb.2_Missense_Mutation_p.V332A Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 400 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 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;0.000172)|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) CCACCAAGAGTCCTTTTATAC 0.582000 DAZAP1 26528 broad.mit.edu 37 19 1432615 1432615 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:1432615C>T uc002lsn.2 + 11 1163 c.974C>T c.(973-975)CCG>CTG p.P325L DAZAP1_uc002lsm.2_Missense_Mutation_p.P325L|DAZAP1_uc002lso.2_Missense_Mutation_p.P324L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P325L NM_018959 NP_061832 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 isoform b 325 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(1) 1 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)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTTCCCACCGCCTCCGTCT 0.652000 DOT1L 84444 broad.mit.edu 37 19 2222099 2222099 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:2222099C>T uc002lvb.3 + 24 2967 c.2931C>T c.(2929-2931)ACC>ACT p.T977T DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 977 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TTTTTGCCACCGTGGGGTCCC 0.701000 PIP5K1C 23396 broad.mit.edu 37 19 3653503 3653503 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:3653503C>T uc002lyj.1 - 7 763 c.706G>A c.(706-708)GTG>ATG p.V236M PIP5K1C_uc010xhq.1_Missense_Mutation_p.V236M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V236M NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 236 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 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) TTCATGACCACGACGCGGATG 0.612000 MATK 4145 broad.mit.edu 37 19 3779120 3779120 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:3779120C>T uc002lyt.2 - 12 1467 c.1067G>A c.(1066-1068)CGC>CAC p.R356H MATK_uc002lyv.2_Missense_Mutation_p.R357H|MATK_uc002lyu.2_Missense_Mutation_p.R315H|MATK_uc010dtq.2_Missense_Mutation_p.R356H NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 356 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 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) CAGGATGTTGCGGGCGGCCAG 0.662000 ITGB1BP3 27231 broad.mit.edu 37 19 3941175 3941175 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:3941175G>T uc002lyz.3 + 7 792 c.502G>T c.(502-504)GTC>TTC p.V168F ITGB1BP3_uc010xia.1_Missense_Mutation_p.V173F NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN integrin beta 1 binding protein 3 168 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGGAAGTGGGTAAGCCCCT 0.562000 C3 718 broad.mit.edu 37 19 6694500 6694500 + Missense_Mutation SNP C C A rs148698696 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:6694500C>A uc002mfm.2 - 24 3158 c.3096G>T c.(3094-3096)GAG>GAT p.E1032D C3_uc002mfl.2_5'Flank NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1032 E->A: Impaired binding of C3d to CR2. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCTCCCACTGCTCCGTTTCAT 0.617000 SH2D3A 10045 broad.mit.edu 37 19 6754122 6754122 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:6754122G>A uc002mft.2 - 8 1519 c.1325C>T c.(1324-1326)GCT>GTT p.A442V SH2D3A_uc010xjg.1_Missense_Mutation_p.A349V NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 442 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 GGCCAGCGCAGCCTCCGTGTG 0.647000 ZNF358 140467 broad.mit.edu 37 19 7585732 7585732 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:7585732A>G uc002mgn.2 + 2 1774 c.1604A>G c.(1603-1605)GAC>GGC p.D535G MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 535 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TCCTGCCCTGACCCCTGTTCT 0.662000 PNPLA6 10908 broad.mit.edu 37 19 7626170 7626170 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:7626170C>T uc010xjq.1 + 33 4215 c.4020C>T c.(4018-4020)CCC>CCT p.P1340P PNPLA6_uc002mgq.1_Silent_p.P1292P|PNPLA6_uc010xjp.1_Silent_p.P1265P|PNPLA6_uc002mgr.1_Silent_p.P1292P|PNPLA6_uc002mgs.2_Silent_p.P1330P|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1331 Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 GGGGGTCCCCCGAGGGCGCAA 0.647000 KIAA1543 57662 broad.mit.edu 37 19 7676000 7676000 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:7676000C>T uc002mgv.3 + 9 1170 c.1069C>T c.(1069-1071)CGC>TGC p.R357C KIAA1543_uc002mgu.3_Missense_Mutation_p.R384C NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 357 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CTTCACCTTCCGCCACCCGCT 0.652000 STXBP2 6813 broad.mit.edu 37 19 7709559 7709559 + Silent SNP C C T rs139160342 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:7709559C>T uc002mha.3 + 14 1212 c.1167C>T c.(1165-1167)ATC>ATT p.I389I STXBP2_uc002mhb.3_Silent_p.I386I|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.I400I|STXBP2_uc010dvk.2_Silent_p.I357I|STXBP2_uc002mhc.3_Silent_p.I157I|STXBP2_uc002mhe.1_Silent_p.I17I NM_006949 NP_008880 Q15833 STXB2_HUMAN syntaxin binding protein 2 isoform a 389 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding central_nervous_system(1) 1 TGAAGCTGATCGTTCCGGTGC 0.657000 MUC16 94025 broad.mit.edu 37 19 9063005 9063005 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:9063005A>C uc002mkp.2 - 3 24645 c.24441T>G c.(24439-24441)ACT>ACG p.T8147T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8149 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGTGGCACCAGTGGGCACTC 0.547000 EIF3G 8666 broad.mit.edu 37 19 10226702 10226702 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:10226702G>A uc002mnd.2 - 8 708 c.644C>T c.(643-645)CCG>CTG p.P215L NM_003755 NP_003746 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, 215 cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) CAGGCTCGGCGGCACATACTT 0.682000 DNMT1 1786 broad.mit.edu 37 19 10260288 10260288 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:10260288G>A uc002mng.2 - 25 2559 c.2379C>T c.(2377-2379)CAC>CAT p.H793H DNMT1_uc010xlc.1_Silent_p.H809H|DNMT1_uc002mnh.2_Silent_p.H688H|DNMT1_uc010xld.1_Silent_p.H793H NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 793 BAH 1. 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 ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 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) ACCAGTGGGCGTGAAACATCT 0.577000 RAVER1 125950 broad.mit.edu 37 19 10432222 10432222 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:10432222C>T uc002moa.2 - 7 1377 c.1297G>A c.(1297-1299)GGG>AGG p.G433R NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 416 Pro-rich. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGCAGCTCCCCGAGGAGGGGG 0.552000 QTRT1 81890 broad.mit.edu 37 19 10823277 10823277 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:10823277C>T uc002mpr.2 + 7 859 c.834C>T c.(832-834)TTC>TTT p.F278F DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 278 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GTGACATGTTCGACTGCGTCT 0.637000 LDLR 3949 broad.mit.edu 37 19 11224051 11224051 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:11224051C>T uc002mqk.3 + 9 1452 c.1284C>T c.(1282-1284)AAC>AAT p.N428N LDLR_uc010xlk.1_Silent_p.N428N|LDLR_uc010xll.1_Silent_p.N387N|LDLR_uc010xlm.1_Silent_p.N281N|LDLR_uc010xln.1_Silent_p.N301N|LDLR_uc010xlo.1_Silent_p.N260N NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 428 LDL-receptor class B 1.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) ACCTGAGGAACGTGGTCGCTC 0.602000 ZNF563 147837 broad.mit.edu 37 19 12429861 12429861 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:12429861T>C uc002mtp.2 - 4 1216 c.978A>G c.(976-978)ATA>ATG p.I326M NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 326 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTTTCATGTGTATCTGAAAGC 0.423000 TNPO2 30000 broad.mit.edu 37 19 12826219 12826219 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:12826219C>T uc002muo.2 - 6 751 c.566G>A c.(565-567)CGG>CAG p.R189Q TNPO2_uc002mup.2_Missense_Mutation_p.R281Q|TNPO2_uc002muq.2_Missense_Mutation_p.R189Q|TNPO2_uc002mur.2_Missense_Mutation_p.R189Q NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 189 HEAT 2. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 CTGCACCCACCGGATCTTGGG 0.632000 MAST1 22983 broad.mit.edu 37 19 12985178 12985178 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:12985178A>T uc002mvm.2 + 26 4335 c.4207A>T c.(4207-4209)ATG>TTG p.M1403L NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1403 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 CACTGGCGGGATGGCCAGGGC 0.736000 NWD1 284434 broad.mit.edu 37 19 16860328 16860328 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:16860328C>T uc002neu.3 + 6 1297 c.875C>T c.(874-876)GCG>GTG p.A292V NWD1_uc002net.3_Missense_Mutation_p.A157V|NWD1_uc002nev.3_Missense_Mutation_p.A86V Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 292 WD 1. ATP binding skin(3)|ovary(2)|pancreas(2) 7 CAGGAGTTGGCGTGGCTCTAC 0.627000 MYO9B 4650 broad.mit.edu 37 19 17213125 17213125 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17213125G>A uc010eak.2 + 2 750 c.598G>A c.(598-600)GTG>ATG p.V200M MYO9B_uc002nfi.2_Missense_Mutation_p.V200M|MYO9B_uc002nfj.1_Missense_Mutation_p.V200M NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 200 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(1) 1 CCCCAAGTACGTGAAGATGTA 0.567000 GTPBP3 84705 broad.mit.edu 37 19 17449796 17449796 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17449796G>A uc010eas.2 + 5 690 c.625G>A c.(625-627)GGC>AGC p.G209S GTPBP3_uc010xpo.1_Missense_Mutation_p.G231S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngi.3_5'UTR NM_032620 NP_116009 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) isoform V 209 tRNA modification mitochondrion GTP binding|GTPase activity skin(1) 1 TATCGATTTCGGCGAGGATGA 0.612000 SLC27A1 376497 broad.mit.edu 37 19 17611367 17611367 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17611367A>G uc002ngu.1 + 9 1447 c.1397A>G c.(1396-1398)TAT>TGT p.Y466C SLC27A1_uc010xpp.1_Missense_Mutation_p.Y287C|SLC27A1_uc002ngv.1_Missense_Mutation_p.Y68C NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 466 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 TTCGATGGCTATGTCAGCGAG 0.642000 GLT25D1 79709 broad.mit.edu 37 19 17692195 17692195 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17692195C>G uc002nhc.1 + 12 1823 c.1811C>G c.(1810-1812)GCC>GGC p.A604G GLT25D1_uc010eay.1_Intron NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 604 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 AGCCGTGAGGCCAAGAACTCG 0.617000 FCHO1 23149 broad.mit.edu 37 19 17886908 17886908 + Missense_Mutation SNP G G A rs148410831 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17886908G>A uc010ebb.2 + 15 1309 c.1120G>A c.(1120-1122)GAG>AAG p.E374K FCHO1_uc002nhg.3_Missense_Mutation_p.E374K|FCHO1_uc002nhh.2_Missense_Mutation_p.E374K|FCHO1_uc010xpw.1_Missense_Mutation_p.E324K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 374 breast(1) 1 CTGCAGCCCCGAGGCAGCAGC 0.677000 B3GNT3 10331 broad.mit.edu 37 19 17919127 17919127 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17919127G>A uc002nhk.1 + 2 596 c.511G>A c.(511-513)GGA>AGA p.G171R B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 171 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 ACAGACTCACGGAGACATCCT 0.637000 ATP13A1 57130 broad.mit.edu 37 19 19758041 19758041 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:19758041C>T uc002nnh.3 - 22 3030 c.3002G>A c.(3001-3003)AGC>AAC p.S1001N ATP13A1_uc002nne.2_Missense_Mutation_p.S141N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S369N|ATP13A1_uc002nng.2_Missense_Mutation_p.S883N NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 1001 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GACGCTCTGGCTGTAGGCCAG 0.612000 ZNF43 7594 broad.mit.edu 37 19 21991137 21991137 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:21991137A>C uc002nqj.2 - 4 1832 c.1702T>G c.(1702-1704)TGT>GGT p.C568G ZNF43_uc010ecv.2_Missense_Mutation_p.C562G|ZNF43_uc002nql.2_Missense_Mutation_p.C562G|ZNF43_uc002nqm.2_Missense_Mutation_p.C562G|ZNF43_uc002nqk.2_Missense_Mutation_p.C498G NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 568 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CATTCTTCACACTTGTAGGGT 0.368000 C19orf12 83636 broad.mit.edu 37 19 30193763 30193763 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:30193763G>A uc002nsk.2 - 3 713 c.282C>T c.(280-282)GCC>GCT p.A94A C19orf12_uc002nsj.2_Silent_p.A105A|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA NM_031448 NP_113636 Q9NSK7 CS012_HUMAN hypothetical protein LOC83636 isoform 2 94 integral to membrane 0 Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) GCCTGATGATGGCTGCGGCTT 0.612000 ZNF536 9745 broad.mit.edu 37 19 30934972 30934972 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:30934972C>T uc002nsu.1 + 2 641 c.503C>T c.(502-504)GCG>GTG p.A168V ZNF536_uc010edd.1_Missense_Mutation_p.A168V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 168 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CACAGGGCGGCGCAGAAGGGG 0.657000 LSM14A 26065 broad.mit.edu 37 19 34712518 34712518 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:34712518C>A uc002nvb.3 + 9 1439 c.1243C>A c.(1243-1245)CTT>ATT p.L415I LSM14A_uc002nva.3_Missense_Mutation_p.L415I|LSM14A_uc010xru.1_Missense_Mutation_p.L374I|LSM14A_uc002nvc.3_Missense_Mutation_p.L221I NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 415 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) CAGAGGAGGTCTTGGTTTCCG 0.577000 LSR 51599 broad.mit.edu 37 19 35752847 35752847 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:35752847T>C uc002nyl.2 + 4 961 c.738T>C c.(736-738)GCT>GCC p.A246A LSR_uc002nym.2_Intron|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.A209A NM_205834 NP_991403 Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 246 Extracellular (Potential). embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity 0 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CAGGGGTGGCTGAGCTCTTAC 0.602000 MAG 4099 broad.mit.edu 37 19 35800926 35800926 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:35800926G>A uc002nyy.1 + 8 1530 c.1381G>A c.(1381-1383)GTG>ATG p.V461M MAG_uc002nyx.1_Missense_Mutation_p.V461M|MAG_uc010eds.1_Missense_Mutation_p.V436M|MAG_uc002nyz.1_Missense_Mutation_p.V461M NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 461 Ig-like C2-type 4.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCGGGAGTTCGTGTACTCGGA 0.677000 FFAR3 2865 broad.mit.edu 37 19 35850476 35850476 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:35850476G>A uc002nzd.2 + 2 759 c.684G>A c.(682-684)GCG>GCA p.A228A FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 228 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GGCTGTTGGCGGCCACGCTGC 0.637000 MLL4 9757 broad.mit.edu 37 19 36211852 36211852 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:36211852C>T uc010eei.2 + 3 1603 c.1603C>T c.(1603-1605)CGC>TGC p.R535C NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 535 Pro-rich. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 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) GGTGAGTGCCCGCTCCTCCCG 0.597000 ZNF565 147929 broad.mit.edu 37 19 36686014 36686014 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:36686014T>A uc002odn.2 - 3 162 c.54A>T c.(52-54)GAA>GAT p.E18D ZNF565_uc010ees.2_Translation_Start_Site|ZNF565_uc002odo.2_Missense_Mutation_p.E18D|ZNF565_uc002odp.1_Missense_Mutation_p.E18D NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) ACTTCCATTCTTCCAGAGAGA 0.443000 HKR1 284459 broad.mit.edu 37 19 37854405 37854405 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:37854405A>C uc002ogb.2 + 6 1977 c.1708A>C c.(1708-1710)AGG>CGG p.R570R HKR1_uc002ofx.2_Silent_p.R286R|HKR1_uc002ofy.2_Silent_p.R286R|HKR1_uc002oga.2_Silent_p.R552R|HKR1_uc010xto.1_Silent_p.R552R|HKR1_uc002ogc.2_Silent_p.R551R|HKR1_uc010xtp.1_Silent_p.R509R|HKR1_uc002ogd.2_Silent_p.R509R NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 570 C2H2-type 10. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAACCTGTTTAGGCACAAGAG 0.507000 PPP1R14A 94274 broad.mit.edu 37 19 38742064 38742064 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:38742064G>A uc002ohq.2 - 4 531 c.338C>T c.(337-339)GCA>GTA p.A113V PPP1R14A_uc010efv.2_Missense_Mutation_p.A86V NM_033256 NP_150281 Q96A00 PP14A_HUMAN protein phosphatase 1, regulatory (inhibitor) 113 Inhibitory. regulation of phosphorylation cytoplasm protein binding|protein phosphatase inhibitor activity 0 all_cancers(60;9.57e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TTGAAGCTTTGCCAGCAGCTC 0.687000 HNRNPL 3191 broad.mit.edu 37 19 39329634 39329634 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:39329634G>A uc010xul.1 - 9 1266 c.1255C>T c.(1255-1257)CCG>TCG p.P419S HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.P75S|HNRNPL_uc002ojo.1_5'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.P75S|HNRNPL_uc002ojl.2_Missense_Mutation_p.P75S|HNRNPL_uc010xum.1_Missense_Mutation_p.P286S|HNRNPL_uc002ojp.1_Missense_Mutation_p.P75S NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 419 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GCGGCCCCCGGCTTGCTTTTC 0.557000 MAP3K10 4294 broad.mit.edu 37 19 40704384 40704384 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:40704384G>A uc002ona.2 + 2 1073 c.785G>A c.(784-786)AGC>AAC p.S262N MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 262 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 ACCAAGATGAGCGCTGCGGGG 0.622000 HIPK4 147746 broad.mit.edu 37 19 40886552 40886552 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:40886552G>A uc002onp.2 - 3 1631 c.1346C>T c.(1345-1347)GCG>GTG p.A449V NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 449 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GTCGGAGACCGCATTGGTGCA 0.632000 C19orf54 284325 broad.mit.edu 37 19 41248565 41248565 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:41248565G>A uc002oou.1 - 6 949 c.829C>T c.(829-831)CCA>TCA p.P277S C19orf54_uc002oow.1_Missense_Mutation_p.P105S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 277 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCCTCCTCTGGCAGGGATGGT 0.652000 B9D2 80776 broad.mit.edu 37 19 41860739 41860739 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:41860739G>A uc002oqj.2 - 4 614 c.394C>T c.(394-396)CCG>TCG p.P132S CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron NM_030578 NP_085055 Q9BPU9 B9D2_HUMAN B9 protein domain 2 132 cilium assembly|mitotic prometaphase centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus gamma-tubulin binding ovary(1) 1 AGCAGCTGCGGCCCACCACCC 0.687000 ZNF526 116115 broad.mit.edu 37 19 42729561 42729561 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:42729561A>G uc002osz.1 + 3 1162 c.1006A>G c.(1006-1008)ACC>GCC p.T336A NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 336 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) TGAGTGTACAACCTGCTCCAA 0.617000 ZNF526 116115 broad.mit.edu 37 19 42730480 42730480 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:42730480C>T uc002osz.1 + 3 2081 c.1925C>T c.(1924-1926)GCG>GTG p.A642V NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 642 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) CAGCCACTGGCGCTTGAGGAC 0.617000 MEGF8 1954 broad.mit.edu 37 19 42848624 42848624 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:42848624G>A uc002otl.3 + 11 2455 c.1820G>A c.(1819-1821)CGC>CAC p.R607H MEGF8_uc002otm.3_Missense_Mutation_p.R148H NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 607 Extracellular (Potential).|PSI 1. integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCCTGGGCCGCCTCCTGGGT 0.672000 PSG1 5669 broad.mit.edu 37 19 43382143 43382143 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:43382143C>T uc002ovb.2 - 2 490 c.352G>A c.(352-354)GGA>AGA p.G118R PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G118R|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G118R|PSG1_uc010eio.1_Missense_Mutation_p.G118R|PSG1_uc002oux.1_Missense_Mutation_p.G47R|PSG1_uc002ouy.1_Missense_Mutation_p.G118R|PSG1_uc002ouz.1_Missense_Mutation_p.G118R|PSG1_uc002ova.1_Missense_Mutation_p.G118R|PSG1_uc002ovc.2_Missense_Mutation_p.G118R|PSG1_uc002ovd.1_Missense_Mutation_p.G118R NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 118 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GTGTAGGATCCTGCGTCCTCC 0.468000 ZNF225 7768 broad.mit.edu 37 19 44622395 44622395 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:44622395C>G uc002oyj.1 + 3 313 c.70C>G c.(70-72)CTG>GTG p.L24V ZNF225_uc010eje.1_5'UTR|ZNF225_uc010ejf.1_Missense_Mutation_p.L24V NM_013362 NP_037494 Q9UK10 ZN225_HUMAN zinc finger protein 225 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGAGCTGAGGCTGCTGGACCT 0.527000 ZNF235 9310 broad.mit.edu 37 19 44792076 44792076 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:44792076G>A uc002oza.3 - 5 1615 c.1512C>T c.(1510-1512)AGC>AGT p.S504S ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.S500S|ZNF235_uc010xwx.1_Silent_p.S418S NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 504 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) CCCTCTGATGGCTCTGGAAAC 0.438000 PVRL2 5819 broad.mit.edu 37 19 45385524 45385524 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:45385524G>A uc002ozw.1 + 6 1489 c.1099G>A c.(1099-1101)GCC>ACC p.A367T NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 367 Helical; (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GGGCATCATCGCCGCCATCAT 0.652000 MARK4 57787 broad.mit.edu 37 19 45783878 45783878 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:45783878C>T uc002pbb.1 + 12 1167 c.1162C>T c.(1162-1164)CGG>TGG p.R388W MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.R388W|MARK4_uc002pbc.1_Missense_Mutation_p.R254W Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 388 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GGCACGGGTGCGGGCGCCCAG 0.677000 GRLF1 2909 broad.mit.edu 37 19 47423674 47423674 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:47423674C>T uc010ekv.2 + 1 1742 c.1742C>T c.(1741-1743)CCG>CTG p.P581L NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 581 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TTTATCCGGCCGTCTGACCGG 0.473000 FAM83E 54854 broad.mit.edu 37 19 49107020 49107020 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:49107020C>T uc002pjn.2 - 4 972 c.907G>A c.(907-909)GGT>AGT p.G303S SPACA4_uc002pjo.2_5'Flank NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 303 ovary(1) 1 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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TGCAGGCCACCTATGACCGAG 0.736000 RPL13A 23521 broad.mit.edu 37 19 49993758 49993758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:49993758C>T uc002pny.2 + 4 203 c.181C>T c.(181-183)CGG>TGG p.R61W RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R51W|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank NM_012423 NP_036555 P40429 RL13A_HUMAN ribosomal protein L13a 61 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CCTCCGCAAGCGGATGAACAC 0.642000 SCAF1 58506 broad.mit.edu 37 19 50154616 50154616 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:50154616G>A uc002poq.2 + 7 1094 c.970G>A c.(970-972)GCG>ACG p.A324T NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 324 mRNA processing|RNA splicing nucleus RNA binding 0 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) CCGCCCGGACGCGCAGCCCAC 0.701000 LRRC4B 94030 broad.mit.edu 37 19 51022666 51022666 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:51022666G>A uc002pss.2 - 3 441 c.304C>T c.(304-306)CGG>TGG p.R102W NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 102 LRR 1.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GTGTCCGTCCGGATCACCTGG 0.652000 KLK8 11202 broad.mit.edu 37 19 51503767 51503767 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:51503767G>A uc002pur.1 - 3 322 c.143C>T c.(142-144)GCG>GTG p.A48V KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 48 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GAACAAGGCCGCCTGCCAAGG 0.597000 ZNF347 84671 broad.mit.edu 37 19 53644036 53644036 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:53644036T>C uc002qbb.1 - 5 2114 c.2045A>G c.(2044-2046)CAG>CGG p.Q682R ZNF347_uc010eql.1_Missense_Mutation_p.Q683R|ZNF347_uc002qbc.1_Missense_Mutation_p.Q683R NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 682 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TTCATTACACTGGTAAGGTTT 0.423000 ZNF677 342926 broad.mit.edu 37 19 53741121 53741121 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:53741121C>T uc002qbf.1 - 5 1044 c.859G>A c.(859-861)GGA>AGA p.G287R ZNF677_uc002qbg.1_Missense_Mutation_p.G287R NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) GGTCTCTGTCCAGAGTGAATT 0.413000 NLRP12 91662 broad.mit.edu 37 19 54297338 54297338 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54297338G>A uc002qch.3 - 10 3371 c.3151C>T c.(3151-3153)CGA>TGA p.R1051* NLRP12_uc010eqw.2_Nonsense_Mutation_p.R277*|NLRP12_uc002qci.3_Nonsense_Mutation_p.R994*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.R1052*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 1051 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 ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTTGTTACTCGAAGCGCTGCC 0.478000 MYADM 91663 broad.mit.edu 37 19 54376803 54376803 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54376803G>A uc002qcl.2 + 3 168 c.20G>A c.(19-21)CGC>CAC p.R7H MYADM_uc002qcm.2_Missense_Mutation_p.R7H|MYADM_uc002qcn.2_Missense_Mutation_p.R7H|MYADM_uc002qco.2_Missense_Mutation_p.R7H|MYADM_uc002qcp.2_Missense_Mutation_p.R7H NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 7 integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) ACGGTAACCCGCACCACCATC 0.587000 OREG0003650 type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay PRKCG 5582 broad.mit.edu 37 19 54401306 54401306 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54401306C>T uc002qcq.1 + 10 1315 c.1033C>T c.(1033-1035)CGC>TGC p.R345C PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 345 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 lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 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) GAGTCCAGGACGCCTGCACAT 0.493000 PRKCG 5582 broad.mit.edu 37 19 54403976 54403976 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54403976C>T uc002qcq.1 + 14 1830 c.1548C>T c.(1546-1548)TGC>TGT p.C516C PRKCG_uc010yeg.1_Silent_p.C516C|PRKCG_uc010yeh.1_Silent_p.C403C NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 516 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 lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 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) GCACCTTCTGCGGGACCCCGG 0.557000 LENG1 79165 broad.mit.edu 37 19 54662025 54662025 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54662025C>T uc002qdm.2 - 2 320 c.307G>A c.(307-309)GAG>AAG p.E103K NM_024316 NP_077292 Q96BZ8 LENG1_HUMAN leukocyte receptor cluster (LRC) member 1 103 Potential. ovary(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTTACTTTCTCCTGTCGCTTT 0.537000 LILRB3 11025 broad.mit.edu 37 19 54720971 54720971 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:54720971G>A uc002qef.1 - 13 1998 c.1887C>T c.(1885-1887)GCC>GCT p.A629A LILRB3_uc002qee.1_Silent_p.A630A|LILRB3_uc002qeh.1_Silent_p.A629A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.A629A|LILRA6_uc002qek.1_Silent_p.A630A|LILRB3_uc010erh.1_Silent_p.A646A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.A629A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A630A|LILRB3_uc002qep.1_Silent_p.A630A|LILRB3_uc002qeq.1_Silent_p.A629A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.A630A NM_006864 NP_006855 O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, 629 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity skin(2)|ovary(1) 3 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCTAGTGGATGGCCAGAGTGG 0.632000 PEG3 5178 broad.mit.edu 37 19 57328239 57328239 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:57328239C>T uc002qnu.2 - 7 1922 c.1571G>A c.(1570-1572)CGG>CAG p.R524Q ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R495Q|PEG3_uc002qnv.2_Missense_Mutation_p.R524Q|PEG3_uc002qnw.2_Missense_Mutation_p.R400Q|PEG3_uc002qnx.2_Missense_Mutation_p.R398Q|PEG3_uc010etr.2_Missense_Mutation_p.R524Q NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 524 C2H2-type 2. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATGAATCTTCCGATGTTCAGC 0.443000 ZNF416 55659 broad.mit.edu 37 19 58084147 58084147 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:58084147A>C uc002qpf.2 - 4 1296 c.1125T>G c.(1123-1125)ACT>ACG p.T375T ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 375 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCCTGTGTGAGTTCTCTGGT 0.438000 ZNF417 147687 broad.mit.edu 37 19 58420174 58420174 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:58420174G>A uc002qqq.2 - 3 1671 c.1472C>T c.(1471-1473)CCG>CTG p.P491L ZNF417_uc010yhm.1_Missense_Mutation_p.P448L|ZNF417_uc002qqr.2_Missense_Mutation_p.P490L NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) GCATTCATACGGCCTTTCTCC 0.413000 ZSCAN18 65982 broad.mit.edu 37 19 58600162 58600162 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:58600162C>A uc002qri.2 - 3 755 c.446G>T c.(445-447)AGC>ATC p.S149I ZSCAN18_uc002qrj.3_Missense_Mutation_p.S149I|ZSCAN18_uc010yhs.1_Missense_Mutation_p.S14I|ZSCAN18_uc002qrh.2_Missense_Mutation_p.S149I|ZSCAN18_uc010yht.1_Missense_Mutation_p.S205I|ZSCAN18_uc002qrk.1_Missense_Mutation_p.S149I|ZSCAN18_uc002qrl.2_Missense_Mutation_p.S149I NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 149 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CACTCCATCGCTAAGAATTGA 0.617000 ZNF497 162968 broad.mit.edu 37 19 58868484 58868484 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:58868484G>A uc002qsh.1 - 3 707 c.518C>T c.(517-519)GCG>GTG p.A173V A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A173V|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 173 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278) CTGCGAGTGCGCGCGGAAGGC 0.677000 ZBTB45 84878 broad.mit.edu 37 19 59028581 59028581 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:59028581G>A uc002qtd.2 - 2 752 c.460C>T c.(460-462)CGC>TGC p.R154C ZBTB45_uc002qte.2_Missense_Mutation_p.R154C|ZBTB45_uc002qtf.2_Missense_Mutation_p.R154C NM_032792 NP_116181 Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 154 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AGCAGGTGGCGCAGGCGGTGA 0.751000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ALLC 55821 broad.mit.edu 37 2 3743890 3743890 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:3743890G>A uc010ewt.2 + 9 854 c.693G>A c.(691-693)GCG>GCA p.A231A ALLC_uc002qyf.2_Silent_p.A2A NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 250 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) AGTCTATGGCGGATGGTTGGG 0.348000 HNSCC(21;0.051) ASAP2 8853 broad.mit.edu 37 2 9515014 9515014 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:9515014C>T uc002qzh.2 + 17 2027 c.1687C>T c.(1687-1689)CTC>TTC p.L563F ASAP2_uc002qzi.2_Missense_Mutation_p.L563F NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 563 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 TTTTGGATTGCTCCAAGCTTA 0.448000 TAF1B 9014 broad.mit.edu 37 2 10022916 10022916 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:10022916A>G uc002qzz.2 + 8 889 c.789A>G c.(787-789)AGA>AGG p.R263R TAF1B_uc010exc.2_Silent_p.R263R|TAF1B_uc002qzy.3_Silent_p.R263R|TAF1B_uc010yja.1_Silent_p.R8R|TAF1B_uc010exd.2_Silent_p.R8R NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 263 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GACGTGACAGAGGAATCTTTG 0.313000 DNMT3A 1788 broad.mit.edu 37 2 25505567 25505567 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:25505567T>G uc002rgc.2 - 4 448 c.191A>C c.(190-192)GAC>GCC p.D64A DNMT3A_uc002rgd.2_Missense_Mutation_p.D64A|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rge.2_Missense_Mutation_p.D61A|DNMT3A_uc002rgf.2_Missense_Mutation_p.D64A NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 64 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTGGCGTGTCACCGCTTTC 0.413000 Mis|F|N|S AML ASXL2 55252 broad.mit.edu 37 2 25965810 25965810 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:25965810G>A uc002rgs.2 - 12 3617 c.3396C>T c.(3394-3396)GGC>GGT p.G1132G ASXL2_uc002rgt.1_Silent_p.G615G NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGAGCCCCGGCCGTAGGTAG 0.488000 GALNT14 79623 broad.mit.edu 37 2 31360851 31360851 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:31360851C>T uc002rnr.2 - 1 721 c.102G>A c.(100-102)CCG>CCA p.P34P GALNT14_uc002rns.2_Silent_p.P34P|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Silent_p.P34P|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 34 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) CAGGTCCCGTCGGCACCTCCA 0.672000 TMEM178 130733 broad.mit.edu 37 2 39893185 39893185 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:39893185C>T uc002rrt.2 + 1 96 c.71C>T c.(70-72)ACG>ATG p.T24M TMEM178_uc010fam.1_Missense_Mutation_p.T24M NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 24 integral to membrane 0 all_hematologic(82;0.248) CTGCTCGTCACGGCCATCTTC 0.632000 SLC8A1 6546 broad.mit.edu 37 2 40657279 40657279 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:40657279C>A uc002rrx.2 - 1 166 c.142G>T c.(142-144)GAA>TAA p.E48* SLC8A1_uc002rry.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E48*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E48* NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 48 Extracellular (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCAGTACATTCACCAGTTTCA 0.408000 ABCG5 64240 broad.mit.edu 37 2 44051074 44051074 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:44051074G>A uc002rtn.2 - 9 1442 c.1302C>T c.(1300-1302)GGC>GGT p.G434G ABCG5_uc002rtm.2_Silent_p.G39G|ABCG5_uc002rto.2_Silent_p.G263G|ABCG5_uc002rtp.2_Silent_p.G39G NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 434 Helical; Name=2; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGTTCAGCATGCCTGTGTACG 0.527000 SIX2 10736 broad.mit.edu 37 2 45235980 45235980 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:45235980T>C uc002ruo.2 - 1 563 c.270A>G c.(268-270)GCA>GCG p.A90A SIX2_uc002rup.2_Silent_p.A90A NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 90 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CGATGTAGTGTGCCTTGAGCC 0.662000 EPAS1 2034 broad.mit.edu 37 2 46583304 46583304 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:46583304G>A uc002ruv.2 + 3 720 c.232G>A c.(232-234)GAG>AAG p.E78K NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 78 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CTCTGAAAACGAGTCCGAAGC 0.527000 FBXO11 80204 broad.mit.edu 37 2 48066832 48066832 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:48066832T>C uc010fbl.2 - 2 171 c.57A>G c.(55-57)AGA>AGG p.R19R FBXO11_uc002rwe.2_Silent_p.R19R|FBXO11_uc002rwf.2_Silent_p.R19R|FBXO11_uc002rwg.1_Silent_p.R19R NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 103 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGAGTTTTTCTACGAAGTT 0.368000 MTIF2 4528 broad.mit.edu 37 2 55490842 55490842 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:55490842C>T uc002ryn.2 - 5 890 c.153G>A c.(151-153)TGG>TGA p.W51* MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Nonsense_Mutation_p.W51*|MTIF2_uc002ryp.1_RNA NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 51 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TTGGCCAGGGCCAGGCACACA 0.423000 BCL11A 53335 broad.mit.edu 37 2 60688703 60688703 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:60688703C>T uc002sae.1 - 4 1572 c.1344G>A c.(1342-1344)CCG>CCA p.P448P BCL11A_uc002sab.2_Silent_p.P448P|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.P117P|BCL11A_uc010ypj.1_Silent_p.P414P|BCL11A_uc002sad.1_Silent_p.P296P|BCL11A_uc002saf.1_Silent_p.P414P NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 448 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|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCCGGGTTCCGGGGAGCTGG 0.627000 T IGH@ B-CLL SPRED2 200734 broad.mit.edu 37 2 65571937 65571937 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:65571937G>A uc002sdr.3 - 2 655 c.120C>T c.(118-120)CGC>CGT p.R40R SPRED2_uc010fcw.2_Silent_p.R37R|SPRED2_uc010fcx.1_RNA NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 40 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 AGACCCCGACGCGACTGATCC 0.532000 AAK1 22848 broad.mit.edu 37 2 69748037 69748037 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:69748037C>A uc002sfp.2 - 11 1644 c.1139G>T c.(1138-1140)GGA>GTA p.G380V AAK1_uc010fdk.2_Missense_Mutation_p.G380V|AAK1_uc010yqm.1_Missense_Mutation_p.G380V|SNORA36C_uc010fdl.2_5'Flank NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 380 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 GGGAAGGATTCCTGGGTTCGG 0.552000 MPHOSPH10 10199 broad.mit.edu 37 2 71365669 71365669 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:71365669C>T uc002sht.1 + 5 1500 c.1148C>T c.(1147-1149)CCG>CTG p.P383L MPHOSPH10_uc010feb.1_Missense_Mutation_p.P383L NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 383 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 GAAAAAAAGCCGTGGCAGCTT 0.398000 DQX1 165545 broad.mit.edu 37 2 74749707 74749707 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:74749707C>A uc010yrw.1 - 8 1660 c.1495G>T c.(1495-1497)GCT>TCT p.A499S DQX1_uc002smc.2_Missense_Mutation_p.A60S NM_133637 NP_598376 Q8TE96 DQX1_HUMAN DEAQ box polypeptide 1 (RNA-dependent ATPase) 499 nucleus ATP binding|helicase activity|nucleic acid binding ovary(2) 2 CGATTTATACCTGTGAGCATG 0.438000 LRRTM4 80059 broad.mit.edu 37 2 77746748 77746748 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:77746748C>T uc002snr.2 - 3 662 c.247G>A c.(247-249)GGC>AGC p.G83S LRRTM4_uc002snq.2_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 83 LRR 1.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGGTTAAGGCCGGCAAACTGA 0.403000 RETSAT 54884 broad.mit.edu 37 2 85581587 85581587 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:85581587G>T uc002spd.2 - 1 235 c.44C>A c.(43-45)GCC>GAC p.A15D ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.A15D|RETSAT_uc010fgf.2_Missense_Mutation_p.A15D NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 15 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) GCAGAGGACGGCCAGCAGCAG 0.607000 ELMOD3 84173 broad.mit.edu 37 2 85604483 85604483 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:85604483A>G uc002spf.3 + 12 1289 c.624A>G c.(622-624)ACA>ACG p.T208T ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.T208T|ELMOD3_uc002sph.3_Silent_p.T208T|ELMOD3_uc010ysn.1_Silent_p.T208T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 208 ELMO. phagocytosis cytoskeleton ovary(2) 2 ATCCAGCCACAGACCTGAGAG 0.587000 KDM3A 55818 broad.mit.edu 37 2 86712114 86712114 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:86712114G>A uc002sri.3 + 20 3471 c.3144G>A c.(3142-3144)TGG>TGA p.W1048* KDM3A_uc010ytj.1_Nonsense_Mutation_p.W1048*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.W996* NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1048 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 breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TTAAGGACTGGCCACCAGGAG 0.358000 ACTR1B 10120 broad.mit.edu 37 2 98274469 98274469 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:98274469T>C uc002syb.2 - 8 1070 c.862A>G c.(862-864)ATG>GTG p.M288V NM_005735 NP_005726 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, 288 centrosome|dynactin complex ATP binding|protein binding skin(1) 1 CGCAGGTCCATGTCGGACTTG 0.607000 IL1R2 7850 broad.mit.edu 37 2 102625045 102625045 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:102625045G>A uc002tbm.2 + 2 237 c.8G>A c.(7-9)CGC>CAC p.R3H IL1R2_uc002tbn.2_Missense_Mutation_p.R3H|IL1R2_uc002tbo.1_Missense_Mutation_p.R3H NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 3 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GCAATGTTGCGCTTGTACGTG 0.532000 SLC9A4 389015 broad.mit.edu 37 2 103130652 103130652 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:103130652G>T uc002tbz.3 + 8 2120 c.1663G>T c.(1663-1665)GCC>TCC p.A555S NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 555 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 AATGAAGCAAGCCATCGAGAT 0.234000 ACOXL 55289 broad.mit.edu 37 2 111562961 111562961 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:111562961G>A uc002tgr.3 + 9 966 c.742G>A c.(742-744)GGT>AGT p.G248S ACOXL_uc010fkc.2_Missense_Mutation_p.G248S|ACOXL_uc010yxk.1_Missense_Mutation_p.G248S NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 248 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 CCAAGCTATGGGTGCCATGAA 0.453000 ZC3H6 376940 broad.mit.edu 37 2 113069467 113069467 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:113069467A>C uc002thq.1 + 5 1094 c.700A>C c.(700-702)ACC>CCC p.T234P NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 234 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 TGGGGGAAGAACCAATAAAGG 0.368000 RGPD5 84220 broad.mit.edu 37 2 113146043 113146043 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:113146043T>C uc002ths.1 - 20 4556 c.4479A>G c.(4477-4479)GTA>GTG p.V1493V RGPD8_uc010fkk.1_Silent_p.V1353V|RGPD5_uc002tht.1_Silent_p.V744V NM_005054 NP_005045 Q99666 RGPD5_HUMAN RANBP2-like and GRIP domain containing 5 isoform 1493 intracellular transport cytoplasm binding 0 CTAATACAGCTACAGCAATTT 0.418000 INHBB 3625 broad.mit.edu 37 2 121106806 121106806 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:121106806C>T uc002tmn.2 + 2 626 c.580C>T c.(580-582)CGG>TGG p.R194W NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 194 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) GAAGGGCAGCCGGCGGAAGGT 0.597000 GLI2 2736 broad.mit.edu 37 2 121746625 121746625 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:121746625C>T uc010flp.2 + 13 3165 c.3135C>T c.(3133-3135)GAC>GAT p.D1045D GLI2_uc002tmq.1_Silent_p.D717D|GLI2_uc002tmr.1_Silent_p.D700D|GLI2_uc002tmt.3_Silent_p.D717D|GLI2_uc002tmu.3_Silent_p.D700D NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1045 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|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CAGGAGTGGACGGCGCGGGGC 0.736000 HS6ST1 9394 broad.mit.edu 37 2 129025949 129025949 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:129025949G>A uc002tpt.3 - 2 1057 c.1023C>T c.(1021-1023)AAC>AAT p.N341N NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 341 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) TGTCCAGGTCGTTGAGCTCCT 0.622000 ARHGEF4 50649 broad.mit.edu 37 2 131688588 131688588 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:131688588T>C uc002tsa.1 + 3 578 c.58T>C c.(58-60)TTC>CTC p.F20L ARHGEF4_uc010fmw.1_Missense_Mutation_p.F666L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F20L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F20L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F666L NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 20 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TCAGAAGGCGTTCCACATGGA 0.597000 ACMSD 130013 broad.mit.edu 37 2 135628620 135628620 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:135628620C>T uc002ttz.2 + 7 733 c.666C>T c.(664-666)TTC>TTT p.F222F ACMSD_uc002tua.2_Silent_p.F164F|uc010zbe.1_Intron NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 222 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) AAGTGTGTTTCGCACATGGTG 0.279000 ACMSD 130013 broad.mit.edu 37 2 135630090 135630090 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:135630090G>A uc002ttz.2 + 8 795 c.728G>A c.(727-729)CGC>CAC p.R243H ACMSD_uc002tua.2_Missense_Mutation_p.R185H|uc010zbe.1_Intron NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 243 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) TTCAGCATGCGCCCAGATCTG 0.493000 RAB3GAP1 22930 broad.mit.edu 37 2 135848570 135848570 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:135848570T>C uc002tuj.2 + 4 178 c.153T>C c.(151-153)GGT>GGC p.G51G RAB3GAP1_uc010fnf.2_Silent_p.G51G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 51 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) ACATATAGGGTATATTTACTT 0.343000 KYNU 8942 broad.mit.edu 37 2 143718341 143718341 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:143718341T>C uc002tvl.2 + 8 859 c.729_splice c.e8+2 p.K243_splice KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CAAGCGAAGGTATGCACGCCA 0.428000 NEB 4703 broad.mit.edu 37 2 152374867 152374867 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:152374867G>T uc010fnx.2 - 128 17853 c.17662C>A c.(17662-17664)CTT>ATT p.L5888I NEB_uc002txr.2_Missense_Mutation_p.L2311I|NEB_uc002txt.3_Missense_Mutation_p.L393I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5888 Nebulin 161. 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 ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTTAGGTGAAGCTGCTCCAGA 0.438000 NEB 4703 broad.mit.edu 37 2 152427010 152427010 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:152427010C>T uc010fnx.2 - 80 12206 c.12015_splice c.e80+1 p.D4005_splice NEB_uc002txr.2_Splice_Site_p.D428_splice NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 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 ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGGCCACTCACGTCACTGGCA 0.517000 RPRM 56475 broad.mit.edu 37 2 154334943 154334943 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:154334943G>A uc002tyq.1 - 1 380 c.137C>T c.(136-138)CCG>CTG p.P46L NM_019845 NP_062819 Q9NS64 RPRM_HUMAN reprimo, TP53 dependant G2 arrest mediator 46 cell cycle arrest cytoplasm|integral to membrane protein binding 0 ACGCTCGTCCGGGCCTCCCTC 0.657000 KCNJ3 3760 broad.mit.edu 37 2 155555820 155555820 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:155555820G>A uc002tyv.1 + 1 728 c.533G>A c.(532-534)GGC>GAC p.G178D KCNJ3_uc010zce.1_Missense_Mutation_p.G178D NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 178 Helical; Name=M2; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TTCCTCATCGGCTGCATGTTC 0.577000 ITGB6 3694 broad.mit.edu 37 2 161029225 161029225 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:161029225C>T uc002ubh.2 - 6 792 c.776G>A c.(775-777)CGG>CAG p.R259Q ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.R259Q|ITGB6_uc010zcq.1_Missense_Mutation_p.R217Q|ITGB6_uc010fov.1_Missense_Mutation_p.R259Q NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 259 Extracellular (Potential).|VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 GGAGTCATTCCGCCAGCCAAT 0.448000 SCN2A 6326 broad.mit.edu 37 2 166243339 166243339 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:166243339G>T uc002udc.2 + 26 4925 c.4635G>T c.(4633-4635)ATG>ATT p.M1545I SCN2A_uc002udd.2_Missense_Mutation_p.M1545I|SCN2A_uc002ude.2_Missense_Mutation_p.M1545I NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1545 IV.|Helical; Name=S1 of repeat IV; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) GCCTTAACATGGTCACCATGA 0.378000 WIPF1 7456 broad.mit.edu 37 2 175436475 175436475 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:175436475C>T uc002uiy.2 - 6 1390 c.1058G>A c.(1057-1059)CGT>CAT p.R353H uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R353H|WIPF1_uc010fqt.1_Missense_Mutation_p.R353H|WIPF1_uc002ujc.1_Missense_Mutation_p.R353H|WIPF1_uc002uiz.2_Missense_Mutation_p.R353H|WIPF1_uc002ujb.1_Missense_Mutation_p.R353H|WIPF1_uc010zep.1_Missense_Mutation_p.R353H NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 353 XRSGPXPPXP motif 1.|Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 AGGACCTGAACGTCCTGGCGA 0.617000 CHN1 1123 broad.mit.edu 37 2 175666460 175666460 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:175666460G>A uc002uji.2 - 12 1713 c.1183C>T c.(1183-1185)CGG>TGG p.R395W CHN1_uc010zeq.1_Missense_Mutation_p.R369W|CHN1_uc002ujj.2_Missense_Mutation_p.R170W|CHN1_uc002ujg.2_Missense_Mutation_p.R270W NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 395 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.R395Q(1) ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) ATGAGGTACCGGAGGGTTTCG 0.413000 T TAF15 extraskeletal myxoid chondrosarcoma CHN1 1123 broad.mit.edu 37 2 175677082 175677082 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:175677082G>A uc002uji.2 - 9 1371 c.841C>T c.(841-843)CGG>TGG p.R281W CHN1_uc010zeq.1_Missense_Mutation_p.R255W|CHN1_uc002ujj.2_Missense_Mutation_p.R56W|CHN1_uc002ujg.2_Missense_Mutation_p.R156W NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 281 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) ACCATTGGCCGCTTAGTGGTA 0.498000 T TAF15 extraskeletal myxoid chondrosarcoma HOXD1 3231 broad.mit.edu 37 2 177054043 177054043 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:177054043G>A uc002ukv.3 + 1 737 c.514G>A c.(514-516)GAC>AAC p.D172N HOXD1_uc010fqy.2_Missense_Mutation_p.D172N|HOXD1_uc010zez.1_Missense_Mutation_p.D172N NM_024501 NP_078777 Q9GZZ0 HXD1_HUMAN homeobox D1 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) AGCGTCAGCCGACGGCCACCC 0.682000 PLEKHA3 65977 broad.mit.edu 37 2 179350390 179350390 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179350390T>G uc002umn.2 + 2 461 c.63T>G c.(61-63)GTT>GTG p.V21V NM_019091 NP_061964 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A 21 PH. cytoplasm|membrane ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) GTTGGTTTGTTTTAGATAATG 0.353000 TTN 7273 broad.mit.edu 37 2 179479312 179479312 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179479312A>T uc010zfg.1 - 210 41449 c.41225T>A c.(41224-41226)GTC>GAC p.V13742D uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V7437D|TTN_uc010zfi.1_Missense_Mutation_p.V7370D|TTN_uc010zfj.1_Missense_Mutation_p.V7245D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14669 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTTAGGGACATTTTCAAT 0.433000 TTN 7273 broad.mit.edu 37 2 179501146 179501146 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179501146T>C uc010zfg.1 - 174 33828 c.33604A>G c.(33604-33606)ACG>GCG p.T11202A TTN_uc010zfh.1_Missense_Mutation_p.T4897A|TTN_uc010zfi.1_Missense_Mutation_p.T4830A|TTN_uc010zfj.1_Missense_Mutation_p.T4705A|TTN_uc010fre.1_Missense_Mutation_p.T1063A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12129 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTAGCCGTGGAGGTCTTT 0.353000 TTN 7273 broad.mit.edu 37 2 179594876 179594876 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179594876C>T uc010zfg.1 - 59 14743 c.14519G>A c.(14518-14520)TGC>TAC p.C4840Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C1501Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5767 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTAGTTGGCAAATGTAGGT 0.468000 TTN 7273 broad.mit.edu 37 2 179605699 179605699 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179605699T>G uc010zfh.1 - 46 11972 c.11748A>C c.(11746-11748)GAA>GAC p.E3916D TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849D|TTN_uc010zfj.1_Missense_Mutation_p.E3724D|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3853 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGGTTTTCTTCTGTAATTA 0.418000 TTN 7273 broad.mit.edu 37 2 179641123 179641123 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:179641123G>T uc010zfg.1 - 28 5692 c.5468C>A c.(5467-5469)GCT>GAT p.A1823D TTN_uc010zfh.1_Missense_Mutation_p.A1777D|TTN_uc010zfi.1_Missense_Mutation_p.A1777D|TTN_uc010zfj.1_Missense_Mutation_p.A1777D|TTN_uc002unb.2_Missense_Mutation_p.A1823D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1823 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCTTCATGAGCCATTCTCTC 0.428000 STAT1 6772 broad.mit.edu 37 2 191874714 191874714 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:191874714C>T uc002usj.2 - 3 404 c.16G>A c.(16-18)GAA>AAA p.E6K STAT1_uc010fse.1_Missense_Mutation_p.E6K|STAT1_uc002usk.2_Missense_Mutation_p.E6K|STAT1_uc002usl.2_Missense_Mutation_p.E8K|STAT1_uc010fsf.1_5'UTR NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 6 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TGCTGAAGTTCGTACCACTGA 0.418000 DNAH7 56171 broad.mit.edu 37 2 196749503 196749503 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:196749503C>A uc002utj.3 - 35 5670 c.5569G>T c.(5569-5571)GTT>TTT p.V1857F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1857 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GAAGCACCAACGGACCAGATC 0.333000 ANKRD44 91526 broad.mit.edu 37 2 197986170 197986170 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:197986170G>A uc002uuc.2 - 8 959 c.792C>T c.(790-792)AAC>AAT p.N264N ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N239N|ANKRD44_uc002uub.2_Silent_p.N264N|ANKRD44_uc010zgw.1_Silent_p.N192N NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 264 ANK 8. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCTGGTTCACGTTAGCACCGT 0.453000 AOX1 316 broad.mit.edu 37 2 201477345 201477345 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:201477345C>T uc002uvx.2 + 14 1378 c.1277C>T c.(1276-1278)TCA>TTA p.S426L AOX1_uc010zhf.1_5'UTR|AOX1_uc010fsu.2_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 426 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAATTTGTGTCAGCCTTCCGA 0.458000 AOX1 316 broad.mit.edu 37 2 201501758 201501758 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:201501758C>T uc002uvx.2 + 22 2572 c.2471C>T c.(2470-2472)GCC>GTC p.A824V AOX1_uc010zhf.1_Missense_Mutation_p.A380V|AOX1_uc010fsu.2_Missense_Mutation_p.A190V NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 824 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) ACTGCATTTGCCGCAAACAAG 0.453000 CASP8 841 broad.mit.edu 37 2 202136270 202136270 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:202136270A>C uc002uxr.1 + 4 546 c.337A>C c.(337-339)AGC>CGC p.S113R CASP8_uc010ftc.1_Missense_Mutation_p.S113R|CASP8_uc002uxo.1_Missense_Mutation_p.S113R|CASP8_uc002uxp.1_Missense_Mutation_p.S145R|CASP8_uc002uxq.1_Missense_Mutation_p.S113R|CASP8_uc002uxs.1_Missense_Mutation_p.S113R|CASP8_uc002uxt.1_Missense_Mutation_p.S172R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.S10R|CASP8_uc002uxv.1_Missense_Mutation_p.S113R|CASP8_uc002uxw.1_Missense_Mutation_p.S113R|CASP8_uc002uxy.1_Missense_Mutation_p.S113R|CASP8_uc002uxx.1_Missense_Mutation_p.S113R|CASP8_uc010ftf.2_Missense_Mutation_p.S113R|CASP8_uc010fte.1_Missense_Mutation_p.S10R NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 113 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AGAAGAAGTGAGCAGATCAGA 0.378000 HNSCC(4;0.00038) ALS2CR11 151254 broad.mit.edu 37 2 202483778 202483778 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:202483778C>T uc002uye.2 - 1 124 c.76G>A c.(76-78)GCC>ACC p.A26T ALS2CR11_uc002uyf.2_Missense_Mutation_p.A26T|ALS2CR11_uc010fti.2_Missense_Mutation_p.A26T NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 26 large_intestine(1)|ovary(1)|skin(1) 3 AGCGGGGTGGCGGACAGGACT 0.577000 BMPR2 659 broad.mit.edu 37 2 203329571 203329571 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:203329571C>T uc002uzf.3 + 2 1264 c.116C>T c.(115-117)CCG>CTG p.P39L BMPR2_uc010ftr.2_Missense_Mutation_p.P39L|BMPR2_uc002uze.2_Missense_Mutation_p.P39L NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 39 Extracellular (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 TTTAAAGATCCGTATCAGCAA 0.343000 RAPH1 65059 broad.mit.edu 37 2 204354393 204354393 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:204354393C>A uc002vad.2 - 4 871 c.646G>T c.(646-648)GCC>TCC p.A216S RAPH1_uc002vae.2_Missense_Mutation_p.A216S|RAPH1_uc002vaf.2_Missense_Mutation_p.A216S NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 216 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 ATGCTGGAGGCTGCGGAAGTG 0.453000 ZDBF2 57683 broad.mit.edu 37 2 207172264 207172264 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:207172264T>C uc002vbp.2 + 5 3262 c.3012T>C c.(3010-3012)TCT>TCC p.S1004S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1004 nucleic acid binding|zinc ion binding ovary(3) 3 GTTTAGATTCTGGTGTCCCTC 0.343000 ABCA12 26154 broad.mit.edu 37 2 215884381 215884381 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:215884381G>A uc002vew.2 - 12 1647 c.1427C>T c.(1426-1428)GCG>GTG p.A476V ABCA12_uc002vev.2_Missense_Mutation_p.A158V|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 476 A -> V (in a pancreatic ductal adenocarcinoma sample; somatic mutation). cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.A476V(1) ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 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) CAGCTCTGCCGCTTCGAGGAG 0.443000 BCS1L 617 broad.mit.edu 37 2 219527931 219527931 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:219527931T>C uc002vio.2 + 8 1500 c.1082T>C c.(1081-1083)CTG>CCG p.L361P BCS1L_uc002vip.2_Missense_Mutation_p.L361P|BCS1L_uc002viq.2_Missense_Mutation_p.L361P|BCS1L_uc010fvu.2_Missense_Mutation_p.L361P|BCS1L_uc010fvv.2_Missense_Mutation_p.L361P|BCS1L_uc002vir.2_Missense_Mutation_p.L361P|BCS1L_uc002vis.2_Missense_Mutation_p.L361P NM_004328 NP_004319 Q9Y276 BCS1_HUMAN BCS1-like 361 Mitochondrial matrix (Potential). mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding 0 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACTGGCAGCTGACCCAGATG 0.572000 CDK5R2 8941 broad.mit.edu 37 2 219825256 219825256 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:219825256C>T uc002vjf.2 + 1 859 c.714C>T c.(712-714)TTC>TTT p.F238F NM_003936 NP_003927 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 238 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGGTGTTCGTGTACCTGC 0.687000 CHPF 79586 broad.mit.edu 37 2 220404687 220404687 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:220404687C>T uc002vmc.3 - 4 1973 c.1746G>A c.(1744-1746)GTG>GTA p.V582V CHPF_uc010zlh.1_Silent_p.V420V NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 582 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGAGCCATGGCACCCGGGCAC 0.667000 KIAA1486 57624 broad.mit.edu 37 2 226446717 226446717 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:226446717C>T uc002voe.2 + 4 759 c.584C>T c.(583-585)CCG>CTG p.P195L KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 195 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) CCTCCCAAACCGAAGCGAAAT 0.483000 IRS1 3667 broad.mit.edu 37 2 227663080 227663080 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:227663080C>T uc002voh.3 - 1 427 c.375G>A c.(373-375)GCG>GCA p.A125A NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 125 Mediates interaction with PHIP (By similarity). fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CCCCGAGGGCCGCAGCTCCGT 0.692000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COL4A4 1286 broad.mit.edu 37 2 227919390 227919390 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:227919390C>T uc010zlt.1 - 31 3434 c.2780G>A c.(2779-2781)GGA>GAA p.G927E NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 927 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 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) GCCAGGACATCCCTCTGCACC 0.532000 TRIP12 9320 broad.mit.edu 37 2 230650558 230650558 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:230650558C>T uc002vpw.1 - 33 4893 c.4784G>A c.(4783-4785)CGA>CAA p.R1595Q TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1595 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CAGCTCCTCTCGGTTCACAGT 0.453000 SP110 3431 broad.mit.edu 37 2 231042289 231042289 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:231042289G>A uc002vqh.3 - 14 1795 c.1555C>T c.(1555-1557)CGT>TGT p.R519C SP110_uc002vqg.3_Missense_Mutation_p.R519C|SP110_uc002vqi.3_Missense_Mutation_p.R519C|SP110_uc010fxk.2_Missense_Mutation_p.R517C|SP110_uc010fxj.2_Missense_Mutation_p.R162C NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 519 SAND. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CCTTCACAACGTATATTCCGT 0.423000 SP140 11262 broad.mit.edu 37 2 231134619 231134619 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:231134619A>G uc002vql.2 + 14 1510 c.1395A>G c.(1393-1395)CCA>CCG p.P465P SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.P351P|SP140_uc002vqm.2_Silent_p.P405P|SP140_uc010fxl.2_Silent_p.P438P NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 465 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAGAGGTGCCAGGAAGCCCAG 0.527000 CHRND 1144 broad.mit.edu 37 2 233398812 233398812 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:233398812C>T uc002vsw.2 + 10 1223 c.1219C>T c.(1219-1221)CGG>TGG p.R407W CHRND_uc010zmg.1_Missense_Mutation_p.R392W|CHRND_uc010fyc.2_Missense_Mutation_p.R280W|CHRND_uc010zmh.1_Missense_Mutation_p.R213W NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 407 Cytoplasmic (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GCAGTCAGAGCGGCATGGGCT 0.637000 GIGYF2 26058 broad.mit.edu 37 2 233684582 233684582 + Nonsense_Mutation SNP C C T rs13002284 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:233684582C>T uc002vti.3 + 23 2753 c.2416C>T c.(2416-2418)CGA>TGA p.R806* GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R800*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R827*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R806*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R800*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R637*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R139* NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 806 Gln-rich.|Glu-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGCATTAAGGCGACAGCGAGA 0.512000 COL6A3 1293 broad.mit.edu 37 2 238285718 238285718 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:238285718C>T uc002vwl.2 - 7 3052 c.2767G>A c.(2767-2769)GCA>ACA p.A923T COL6A3_uc002vwo.2_Missense_Mutation_p.A717T|COL6A3_uc010znj.1_Missense_Mutation_p.A316T|COL6A3_uc002vwq.2_Missense_Mutation_p.A717T|COL6A3_uc002vwr.2_Missense_Mutation_p.A516T|COL6A3_uc010znk.1_Missense_Mutation_p.A723T NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 923 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 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) TACCTCTGTGCATAGTCCAGC 0.522000 COL6A3 1293 broad.mit.edu 37 2 238287277 238287277 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:238287277A>G uc002vwl.2 - 6 2782 c.2497_splice c.e6+1 p.E833_splice COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 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) GGGGAGGTTTACCTGGCTGAG 0.542000 TRAF3IP1 26146 broad.mit.edu 37 2 239306240 239306240 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:239306240C>T uc002vye.2 + 16 1949 c.1830C>T c.(1828-1830)GAC>GAT p.D610D TRAF3IP1_uc002vyf.2_Silent_p.D544D NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 610 Potential.|DISC1-interaction domain. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) TCCAGGAAGACGTGGATGCCA 0.582000 PASK 23178 broad.mit.edu 37 2 242076594 242076594 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:242076594C>T uc002wao.1 - 7 1054 c.962G>A c.(961-963)AGC>AAC p.S321N PASK_uc010zol.1_Missense_Mutation_p.S135N|PASK_uc010zom.1_Missense_Mutation_p.S286N|PASK_uc010fzl.1_Missense_Mutation_p.S321N|PASK_uc010zon.1_Missense_Mutation_p.S102N|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.S321N NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 321 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CGCCTCCTCGCTGCTGGGTTG 0.582000 ANO7 50636 broad.mit.edu 37 2 242163549 242163549 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:242163549C>T uc002wax.2 + 25 2886 c.2783C>T c.(2782-2784)GCC>GTC p.A928V NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 928 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GTTCCCAAGGCCAGCCAGCTG 0.642000 HDLBP 3069 broad.mit.edu 37 2 242170236 242170236 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:242170236C>T uc002waz.2 - 25 3640 c.3412G>A c.(3412-3414)GTT>ATT p.V1138I HDLBP_uc002wba.2_Missense_Mutation_p.V1138I|HDLBP_uc002wbb.2_Missense_Mutation_p.V1090I NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1138 KH 14. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 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) CGGGCGTGAACGCGGTGGTCC 0.547000 FARP2 9855 broad.mit.edu 37 2 242432348 242432348 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:242432348A>G uc002wbi.1 + 25 2909 c.2792A>G c.(2791-2793)CAG>CGG p.Q931R NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 931 PH 2. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) TGACAGAACCAGCTTTCAGGA 0.458000 SIGLEC1 6614 broad.mit.edu 37 20 3683917 3683917 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:3683917A>G uc002wja.2 - 5 1155 c.1155T>C c.(1153-1155)ACT>ACC p.T385T SIGLEC1_uc002wiz.3_Silent_p.T385T|SIGLEC1_uc002wjc.2_Silent_p.T296T NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 385 Extracellular (Potential).|Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 AGTAGAAGCCAGTATCAGCCC 0.607000 C20orf196 149840 broad.mit.edu 37 20 5843700 5843700 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:5843700A>C uc002wmf.2 + 3 296 c.209A>C c.(208-210)AAC>ACC p.N70T NM_152504 NP_689717 Q8IYI0 CT196_HUMAN hypothetical protein LOC149840 70 0 GAACAAAATAACTCCTGGACC 0.423000 BMP2 650 broad.mit.edu 37 20 6759223 6759223 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:6759223C>T uc002wmu.1 + 3 1463 c.678C>T c.(676-678)TTC>TTT p.F226F NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 226 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 ovary(1)|breast(1) 2 Simvastatin(DB00641) ACCATGGATTCGTGGTGGAAG 0.522000 SLC24A3 57419 broad.mit.edu 37 20 19662610 19662610 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:19662610C>T uc002wrl.2 + 10 1073 c.876C>T c.(874-876)GAC>GAT p.D292D NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 292 Cytoplasmic (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 GCAACTGCGACGCAACTGTGG 0.333000 C20orf26 26074 broad.mit.edu 37 20 20258008 20258008 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:20258008C>T uc002wru.2 + 22 2778 c.2702C>T c.(2701-2703)GCG>GTG p.A901V C20orf26_uc010zse.1_Missense_Mutation_p.A881V|C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 901 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TACCGGGATGCGATCCTGGCC 0.632000 ZNF337 26152 broad.mit.edu 37 20 25656021 25656021 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:25656021G>A uc002wva.2 - 4 2425 c.1903C>T c.(1903-1905)CGA>TGA p.R635* uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.R603*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.R635*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.R635* NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 635 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGAAGCCTCGCCCACACTCC 0.502000 ZNF337 26152 broad.mit.edu 37 20 25657112 25657112 + Missense_Mutation SNP C C T rs147339647 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:25657112C>T uc002wva.2 - 4 1334 c.812G>A c.(811-813)CGA>CAA p.R271Q uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R239Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R271Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R271Q NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 271 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTATAGCCTCGTCCACACAC 0.522000 E2F1 1869 broad.mit.edu 37 20 32264963 32264963 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:32264963G>T uc002wzu.3 - 6 1154 c.1014C>A c.(1012-1014)CCC>CCA p.P338P NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank NM_005225 NP_005216 Q01094 E2F1_HUMAN E2F transcription factor 1 338 Required for interaction with TRIM28. 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 0 GGGATGAGGGGGGAGATGATG 0.622000 RALY 22913 broad.mit.edu 37 20 32664892 32664892 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:32664892C>A uc002xab.2 + 8 1015 c.717C>A c.(715-717)AGC>AGA p.S239R RALY_uc002xac.2_Missense_Mutation_p.S223R|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S239R NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 239 Epitope (recognized by BKRF1 antibodies).|Poly-Gly. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 gtggtggcagcggtggcggtg 0.368000 PPP1R16B 26051 broad.mit.edu 37 20 37464809 37464809 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:37464809G>A uc002xje.2 + 2 430 c.241G>A c.(241-243)GCC>ACC p.A81T PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 81 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GAGGAACGACGCCGAGGAAGG 0.647000 PTPRT 11122 broad.mit.edu 37 20 40864897 40864897 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:40864897T>G uc002xkg.2 - 15 2498 c.2314A>C c.(2314-2316)AGA>CGA p.R772R PTPRT_uc010ggj.2_Silent_p.R791R NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 772 Cytoplasmic (Potential). 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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TAAGCATTTCTTCTATATATT 0.373000 PTPRT 11122 broad.mit.edu 37 20 40980816 40980816 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:40980816T>C uc002xkg.2 - 10 1854 c.1670A>G c.(1669-1671)TAC>TGC p.Y557C PTPRT_uc010ggj.2_Missense_Mutation_p.Y557C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 557 Extracellular (Potential).|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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGTCCCTGGGTACAGACCCAC 0.562000 NEURL2 140825 broad.mit.edu 37 20 44519036 44519036 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:44519036C>T uc002xqg.1 - 1 866 c.595G>A c.(595-597)GAT>AAT p.D199N C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank NM_080749 NP_542787 Q9BR09 NEUL2_HUMAN neuralized-like protein 2 199 NHR. intracellular signal transduction 0 Myeloproliferative disorder(115;0.0122) GCCGTGCCATCGGGGCGCGGG 0.672000 OREG0025985 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF334 55713 broad.mit.edu 37 20 45131154 45131154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:45131154C>T uc002xsc.2 - 5 1008 c.824G>A c.(823-825)CGT>CAT p.R275H ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 275 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TGTCTTCACACGAAAAGTTTT 0.413000 NCOA3 8202 broad.mit.edu 37 20 46267789 46267789 + Silent SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:46267789T>A uc002xtk.2 + 14 2755 c.2550T>A c.(2548-2550)CCT>CCA p.P850P NCOA3_uc010ght.1_Silent_p.P860P|NCOA3_uc002xtl.2_Silent_p.P850P|NCOA3_uc002xtm.2_Silent_p.P850P|NCOA3_uc002xtn.2_Silent_p.P850P|NCOA3_uc010zyc.1_Silent_p.P645P NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 850 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CTATTCGTCCTCCATATAACC 0.378000 ARFGEF2 10564 broad.mit.edu 37 20 47591403 47591403 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:47591403C>T uc002xtx.3 + 13 1918 c.1766C>T c.(1765-1767)ACC>ATC p.T589I NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 589 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AACCACCAGACCAGCCTCGGT 0.507000 MOCS3 27304 broad.mit.edu 37 20 49575694 49575694 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:49575694C>T uc002xvy.1 + 1 332 c.315C>T c.(313-315)GGC>GGT p.G105G DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 105 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 CAGCGGCCGGCGTGGGCCGCC 0.682000 ZFP64 55734 broad.mit.edu 37 20 50705100 50705100 + Silent SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:50705100G>T uc002xwk.2 - 8 1408 c.1059C>A c.(1057-1059)ACC>ACA p.T353T ZFP64_uc002xwj.2_Silent_p.T134T NM_199427 NP_955459 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform d Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GCTTCACACTGGTGTGGCACC 0.547000 TSHZ2 128553 broad.mit.edu 37 20 51873029 51873029 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:51873029T>G uc002xwo.2 + 2 3988 c.3032T>G c.(3031-3033)CTC>CGC p.L1011R NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 1011 C2H2-type 5. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) GCGGTAAAACTCCACCTAAGC 0.468000 CASS4 57091 broad.mit.edu 37 20 55012497 55012497 + Missense_Mutation SNP G G A rs142769327 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:55012497G>A uc002xxp.2 + 3 539 c.314G>A c.(313-315)CGC>CAC p.R105H CASS4_uc002xxq.3_Missense_Mutation_p.R105H|CASS4_uc002xxr.2_Missense_Mutation_p.R105H|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Missense_Mutation_p.R105H NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 105 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 ACTCTACCCCGCCCTCCCACT 0.647000 C20orf43 51507 broad.mit.edu 37 20 55059247 55059247 + Splice_Site SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:55059247T>C uc002xxt.2 + 5 584 c.477_splice c.e5+2 p.T159_splice C20orf43_uc010zzf.1_Splice_Site_p.T189_splice|C20orf43_uc002xxu.2_Splice_Site_p.T159_splice|C20orf43_uc002xxv.2_Splice_Site_p.T159_splice NM_016407 NP_057491 Q9BY42 CT043_HUMAN hypothetical protein LOC51507 ovary(1) 1 Colorectal(105;0.202) TGCCACACGGTGAGTTCCTGA 0.473000 PMEPA1 56937 broad.mit.edu 37 20 56234599 56234599 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:56234599T>C uc002xyq.2 - 2 657 c.264A>G c.(262-264)TCA>TCG p.S88S PMEPA1_uc002xyr.2_Silent_p.S38S|PMEPA1_uc002xys.2_Silent_p.S53S|PMEPA1_uc002xyt.2_Silent_p.S38S NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 88 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 GGGCACTTACTGAGGACAGGG 0.577000 CDH26 60437 broad.mit.edu 37 20 58562650 58562651 + Missense_Mutation DNP CG CG TA TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:58562650_58562651CG>TA uc002ybe.2 + 8 1280_1281 c.980_981CG>TA c.(979-981)TCG>TTA p.S327L CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 327 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TTTGACATTTCGACTGACCCTG 0.450000 CDH4 1002 broad.mit.edu 37 20 60448911 60448911 + Silent SNP C C T rs148871297 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:60448911C>T uc002ybn.1 + 7 1019 c.1005C>T c.(1003-1005)AGC>AGT p.S335S CDH4_uc002ybp.1_Silent_p.S261S NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 335 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCATCAACAGCGAGACTGGAG 0.647000 LAMA5 3911 broad.mit.edu 37 20 60893940 60893940 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:60893940G>A uc002ycq.2 - 52 7068 c.7001C>T c.(7000-7002)CCG>CTG p.P2334L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2334 Domain II and I. 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 ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCTGCCTGCGGGGCCCCCAG 0.687000 DIDO1 11083 broad.mit.edu 37 20 61512757 61512757 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:61512757C>A uc002ydr.1 - 16 4815 c.4551G>T c.(4549-4551)TCG>TCT p.S1517S DIDO1_uc002yds.1_Silent_p.S1517S NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1517 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCAAGGCGTCCGACACCGAGA 0.617000 YTHDF1 54915 broad.mit.edu 37 20 61834968 61834968 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:61834968A>G uc002yeh.2 - 4 618 c.324T>C c.(322-324)CCT>CCC p.P108P YTHDF1_uc011aaq.1_Silent_p.P58P NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 108 ovary(2) 2 CCAGGCCCCCAGGCTGCCCAA 0.532000 SLC2A4RG 56731 broad.mit.edu 37 20 62373369 62373369 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:62373369C>T uc002ygq.2 + 4 594 c.539C>T c.(538-540)GCC>GTC p.A180V SLC2A4RG_uc002ygr.2_Missense_Mutation_p.A75V|SLC2A4RG_uc011abj.1_Missense_Mutation_p.A75V|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR NM_020062 NP_064446 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 180 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCCGAGGCAGCCCACTTTCTG 0.677000 ZBTB46 140685 broad.mit.edu 37 20 62384092 62384092 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:62384092C>T uc002ygv.1 - 4 1546 c.1345G>A c.(1345-1347)GAG>AAG p.E449K ZBTB46_uc002ygu.2_RNA NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 449 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1)|ovary(1) 2 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CCGCAGATCTCGCAGGGGTAG 0.657000 C20orf135 140701 broad.mit.edu 37 20 62493849 62493849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:62493849G>A uc002ygx.1 + 1 1284 c.956G>A c.(955-957)CGC>CAC p.R319H TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 319 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) CTGCTCCGACGCACGCAGGAT 0.687000 ZNF512B 57473 broad.mit.edu 37 20 62592694 62592694 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:62592694C>T uc002yhl.1 - 16 2449 c.2395G>A c.(2395-2397)GTC>ATC p.V799I NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 799 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) TGGTATTTGACGCCACTCTCA 0.647000 ZNF512B 57473 broad.mit.edu 37 20 62595228 62595228 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:62595228G>A uc002yhl.1 - 9 1573 c.1519C>T c.(1519-1521)CGC>TGC p.R507C NM_020713 NP_065764 Q96KM6 Z512B_HUMAN zinc finger protein 512B 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) GCTTCCCCGCGCTCATGGATG 0.652000 LIPI 149998 broad.mit.edu 37 21 15579144 15579144 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:15579144A>G uc002yjm.2 - 1 111 c.101T>C c.(100-102)CTG>CCG p.L34P NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) acctgatctcaggcacacaac 0.239000 CHODL 140578 broad.mit.edu 37 21 19628904 19628904 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:19628904G>T uc002ykv.2 + 2 549 c.158G>T c.(157-159)AGC>ATC p.S53I CHODL_uc002ykr.2_Missense_Mutation_p.S12I|CHODL_uc002yks.2_Missense_Mutation_p.S12I|CHODL_uc002ykt.2_Missense_Mutation_p.S12I|CHODL_uc002yku.2_Missense_Mutation_p.S12I NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 53 Extracellular (Potential).|C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AGCCGAGTGAGCTTTCAGGAG 0.473000 KRTAP6-1 337966 broad.mit.edu 37 21 31986107 31986107 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:31986107G>A uc002yop.2 - 1 117 c.117C>T c.(115-117)GGC>GGT p.G39G KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 39 cytosol|intermediate filament 0 GGAAGCCACAGCCACAGCAGG 0.592000 TIAM1 7074 broad.mit.edu 37 21 32492823 32492823 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:32492823C>T uc002yow.1 - 29 5111 c.4639G>A c.(4639-4641)GCG>ACG p.A1547T TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1487T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1547 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATGCGGGACGCGTGACTATCC 0.602000 TIAM1 7074 broad.mit.edu 37 21 32590005 32590005 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:32590005C>T uc002yow.1 - 10 2478 c.2006G>A c.(2005-2007)CGC>CAC p.R669H TIAM1_uc011adk.1_Missense_Mutation_p.R669H|TIAM1_uc011adl.1_Missense_Mutation_p.R669H|TIAM1_uc002yox.1_Missense_Mutation_p.R277H NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 669 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 TTCACCAGTGCGTGCTGCCAC 0.562000 OLIG2 10215 broad.mit.edu 37 21 34399407 34399407 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:34399407G>A uc002yqx.1 + 2 395 c.237G>A c.(235-237)TCG>TCA p.S79S NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 79 Poly-Ser. cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 AGTCATCCTCGTCCAGCACCT 0.647000 T TRA@ T-ALL MX1 4599 broad.mit.edu 37 21 42811630 42811630 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:42811630C>T uc002yzh.2 + 10 1393 c.446C>T c.(445-447)GCC>GTC p.A149V MX1_uc002yzi.2_Missense_Mutation_p.A149V|MX1_uc010goq.2_Missense_Mutation_p.A149V NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 149 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) GCCCAGAATGCCATCGCCGGG 0.478000 PRDM15 63977 broad.mit.edu 37 21 43274836 43274836 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:43274836G>A uc002yzq.1 - 12 1586 c.1475C>T c.(1474-1476)GCC>GTC p.A492V PRDM15_uc002yzo.2_Missense_Mutation_p.A163V|PRDM15_uc002yzp.2_Missense_Mutation_p.A163V|PRDM15_uc002yzr.1_Missense_Mutation_p.A163V NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 492 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGGTGCTCGGCCTCCGCCGC 0.642000 RSPH1 89765 broad.mit.edu 37 21 43906550 43906550 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:43906550C>T uc002zbg.2 - 4 401 c.296G>A c.(295-297)CGG>CAG p.R99Q NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 99 MORN 4. meiosis cytosol|nucleus ovary(1) 1 ATGGCCGTGCCGCAGGTCATT 0.478000 TRAPPC10 7109 broad.mit.edu 37 21 45494326 45494326 + Missense_Mutation SNP G G T rs148635981 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:45494326G>T uc002zea.2 + 8 1329 c.1160G>T c.(1159-1161)GGG>GTG p.G387V TRAPPC10_uc010gpo.2_Missense_Mutation_p.G98V NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 387 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CACACTGTGGGGCTATGGAGC 0.572000 ITGB2 3689 broad.mit.edu 37 21 46320303 46320303 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:46320303C>T uc002zgd.2 - 6 873 c.829G>A c.(829-831)GCC>ACC p.A277T ITGB2_uc002zge.2_Missense_Mutation_p.A277T|ITGB2_uc002zgf.3_Missense_Mutation_p.A277T|ITGB2_uc011afl.1_Missense_Mutation_p.A199T|ITGB2_uc010gpw.2_Missense_Mutation_p.A220T|ITGB2_uc002zgg.2_Missense_Mutation_p.A277T NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 277 Extracellular (Potential).|VWFA. 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 ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GTCAGGATGGCGCCCAGCTTC 0.627000 PCNT 5116 broad.mit.edu 37 21 47832899 47832899 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:47832899G>A uc002zji.3 + 29 6250 c.6143G>A c.(6142-6144)GGC>GAC p.G2048D PCNT_uc002zjj.2_Missense_Mutation_p.G1930D NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2048 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CTGGAGGACGGCGGCAAGGTG 0.657000 ARVCF 421 broad.mit.edu 37 22 19967605 19967605 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:19967605G>A uc002zqz.2 - 6 1328 c.1057C>T c.(1057-1059)CCG>TCG p.P353S ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 353 ARM 1. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CGCCAGCGCGGCTCCTTGCGG 0.716000 MED15 51586 broad.mit.edu 37 22 20918760 20918760 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:20918760G>T uc002zsp.2 + 6 555 c.475G>T c.(475-477)GCG>TCG p.A159S MED15_uc002zsn.1_Missense_Mutation_p.A78S|MED15_uc002zso.2_Missense_Mutation_p.A88S|MED15_uc002zsq.2_Missense_Mutation_p.A159S|MED15_uc010gso.2_Missense_Mutation_p.A159S|MED15_uc002zsr.2_Missense_Mutation_p.A133S|MED15_uc011ahs.1_Missense_Mutation_p.A133S|MED15_uc011aht.1_Missense_Mutation_p.A133S|MED15_uc002zss.2_Missense_Mutation_p.A78S|MED15_uc011ahu.1_5'Flank NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 159 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 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) CCAGCAGGTGGCGCTgcagca 0.323000 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AIFM3 150209 broad.mit.edu 37 22 21329105 21329105 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:21329105G>T uc002ztj.2 + 8 938 c.720G>T c.(718-720)AAG>AAT p.K240N AIFM3_uc002ztk.2_Missense_Mutation_p.K240N|AIFM3_uc002ztl.2_Missense_Mutation_p.K246N|AIFM3_uc011ahx.1_Missense_Mutation_p.K228N|AIFM3_uc002ztm.1_Missense_Mutation_p.K52N NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 240 FAD (Potential). activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGCTCAGCAAGGTACAGGGGG 0.632000 TOP3B 8940 broad.mit.edu 37 22 22313552 22313552 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:22313552C>T uc002zvs.2 - 16 2292 c.1857G>A c.(1855-1857)AAG>AAA p.K619K TOP3B_uc010gtm.1_Silent_p.K164K|TOP3B_uc002zvr.2_Silent_p.K344K|TOP3B_uc010gtl.2_Silent_p.K619K|TOP3B_uc002zvt.3_Silent_p.K619K NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 619 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GTGAGAGGGGCTTGCCTGTGG 0.507000 LRP5L 91355 broad.mit.edu 37 22 25756037 25756037 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:25756037G>A uc003abs.2 - 1 2488 c.23C>T c.(22-24)ACG>ATG p.T8M LRP5L_uc011ajz.1_Missense_Mutation_p.T8M|LRP5L_uc010guw.1_Missense_Mutation_p.T8M NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 8 LDL-receptor class B 1. 0 CTCGTCATCCGTCCAGTAGAC 0.597000 MYO18B 84700 broad.mit.edu 37 22 26423135 26423135 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:26423135C>A uc003abz.1 + 43 7445 c.7195C>A c.(7195-7197)CTT>ATT p.L2399I MYO18B_uc003aca.1_Missense_Mutation_p.L2280I|MYO18B_uc010guy.1_Missense_Mutation_p.L2281I|MYO18B_uc010guz.1_Missense_Mutation_p.L2279I|MYO18B_uc011aka.1_Missense_Mutation_p.L1553I|MYO18B_uc011akb.1_Missense_Mutation_p.L1912I|MYO18B_uc010gva.1_Missense_Mutation_p.L382I|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2399 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CTGTCCAGACCTTGGAAAGGA 0.602000 CRYBB1 1414 broad.mit.edu 37 22 27012154 27012154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:27012154C>T uc003acy.1 - 2 200 c.130G>A c.(130-132)GTG>ATG p.V44M NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 44 N-terminal arm. visual perception structural constituent of eye lens ovary(1) 1 GTAATAGGCACGGTTGTTGGG 0.647000 ZNRF3 84133 broad.mit.edu 37 22 29444461 29444461 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:29444461T>C uc003aeg.2 + 7 862 c.697T>C c.(697-699)TGT>CGT p.C233R ZNRF3_uc003aeh.1_Missense_Mutation_p.C233R NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 333 RING-type; atypical.|Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 CTGCCCCCACTGTCGGCACAA 0.592000 CCDC157 550631 broad.mit.edu 37 22 30762081 30762081 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:30762081G>A uc011aku.1 + 3 752 c.92G>A c.(91-93)CGC>CAC p.R31H CCDC157_uc011akv.1_Missense_Mutation_p.R31H NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 31 central_nervous_system(1) 1 GTCTTCTCCCGCGCCGGGCCT 0.652000 OSBP2 23762 broad.mit.edu 37 22 31285560 31285560 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:31285560C>T uc003aiy.1 + 7 1664 c.1560C>T c.(1558-1560)AGC>AGT p.S520S OSBP2_uc011ala.1_Silent_p.S354S|OSBP2_uc010gwc.1_Silent_p.S347S|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Silent_p.S519S|OSBP2_uc003aja.1_Silent_p.S153S|OSBP2_uc011alc.1_Silent_p.S262S|OSBP2_uc003ajb.2_Silent_p.S65S|OSBP2_uc011ald.1_Silent_p.S64S|OSBP2_uc010gwd.1_Silent_p.S65S NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 520 lipid transport membrane lipid binding breast(1)|skin(1) 2 CCAACTACAGCCTTAACCTCT 0.607000 OSBP2 23762 broad.mit.edu 37 22 31302253 31302253 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:31302253C>T uc003aiy.1 + 14 2782 c.2678C>T c.(2677-2679)GCC>GTC p.A893V OSBP2_uc011ala.1_Missense_Mutation_p.A727V|OSBP2_uc010gwc.1_Missense_Mutation_p.A720V|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.A892V|OSBP2_uc003aja.1_Missense_Mutation_p.A526V|OSBP2_uc011alc.1_Missense_Mutation_p.A636V|OSBP2_uc003ajb.2_Missense_Mutation_p.A438V|OSBP2_uc011ald.1_Missense_Mutation_p.A437V|OSBP2_uc010gwd.1_3'UTR NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 893 lipid transport membrane lipid binding breast(1)|skin(1) 2 GGGGAGATGGCCTGTGTGTAC 0.602000 SMTN 6525 broad.mit.edu 37 22 31495154 31495154 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:31495154C>T uc003ajl.1 + 18 2658 c.2440C>T c.(2440-2442)CGC>TGC p.R814C SMTN_uc003ajk.1_Missense_Mutation_p.R814C|SMTN_uc003ajm.1_Missense_Mutation_p.R814C|SMTN_uc011ale.1_Missense_Mutation_p.R899C|SMTN_uc011alf.1_Missense_Mutation_p.R870C|SMTN_uc003ajn.1_Missense_Mutation_p.R837C|SMTN_uc011alg.1_Missense_Mutation_p.R270C|SMTN_uc003ajo.1_Missense_Mutation_p.R337C|SMTN_uc010gwe.1_Missense_Mutation_p.R194C|SMTN_uc003ajp.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 814 CH. muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 AGCCAAGACTCGCGGCTACGA 0.652000 DEPDC5 9681 broad.mit.edu 37 22 32302315 32302315 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:32302315G>A uc003als.2 + 42 4693 c.4551G>A c.(4549-4551)TGG>TGA p.W1517* DEPDC5_uc011als.1_Nonsense_Mutation_p.W1448*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1548*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1539*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W966*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W815*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W365*|DEPDC5_uc010gwk.2_Missense_Mutation_p.G553S|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W365* NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1517 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GCTACAACTGGGCCTACAACA 0.587000 RFPL2 10739 broad.mit.edu 37 22 32587176 32587176 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:32587176G>A uc003amg.3 - 5 1656 c.720C>T c.(718-720)CGC>CGT p.R240R RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 240 B30.2/SPRY. zinc ion binding skin(1) 1 CCCAGCAGTGGCGGCCACAGG 0.592000 HMOX1 3162 broad.mit.edu 37 22 35783002 35783002 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:35783002C>T uc003ant.1 + 3 549 c.469C>T c.(469-471)CTG>TTG p.L157L NM_002133 NP_002124 P09601 HMOX1_HUMAN heme oxygenase (decyclizing) 1 157 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity ovary(1) 1 NADH(DB00157) AGCCCTGGACCTGCCCAGCTC 0.627000 LGALS2 3957 broad.mit.edu 37 22 37966699 37966699 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:37966699G>A uc003ata.2 - 3 245 c.133C>T c.(133-135)CAT>TAT p.H45Y NM_006498 NP_006489 P05162 LEG2_HUMAN lectin, galactoside-binding, soluble, 2 45 Galectin. breast(1)|skin(1) 2 Melanoma(58;0.0574) GGGTTGAAATGCAGGTTCAGC 0.542000 PDXP 57026 broad.mit.edu 37 22 38055298 38055298 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:38055298A>C uc003atm.1 + 1 562 c.509A>C c.(508-510)GAG>GCG p.E170A SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank NM_020315 NP_064711 Q96GD0 PLPP_HUMAN pyridoxal phosphatase 170 actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis cytosol heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity ovary(2) 2 Melanoma(58;0.0574) Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CGCGACCCCGAGTGCCTACTC 0.592000 TMEM184B 25829 broad.mit.edu 37 22 38620838 38620838 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:38620838G>A uc003avf.1 - 8 1160 c.936C>T c.(934-936)CAC>CAT p.H312H TMEM184B_uc003avg.1_Silent_p.H312H|TMEM184B_uc003avh.1_Silent_p.H246H NM_012264 NP_036396 Q9Y519 T184B_HUMAN transmembrane protein 184B 312 integral to membrane 0 Melanoma(58;0.045) AGGTGAAGGCGTGCCGCAGGG 0.637000 SGSM3 27352 broad.mit.edu 37 22 40801671 40801671 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:40801671C>T uc003ayu.1 + 8 846 c.637C>T c.(637-639)CTG>TTG p.L213L SGSM3_uc010gyc.1_Silent_p.L213L|SGSM3_uc011aos.1_Silent_p.L146L|SGSM3_uc011aot.1_Silent_p.L150L|SGSM3_uc010gyd.1_Silent_p.L213L NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 213 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 CTGCCTCCTGCTGTTCCTGGA 0.502000 EP300 2033 broad.mit.edu 37 22 41533773 41533773 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:41533773G>A uc003azl.3 + 8 2134 c.1739G>A c.(1738-1740)CGA>CAA p.R580Q NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 580 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.R580*(1) haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CAGGATCTTCGAAATCATCTT 0.433000 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome EP300 2033 broad.mit.edu 37 22 41545050 41545050 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:41545050C>T uc003azl.3 + 13 2645 c.2250C>T c.(2248-2250)GGC>GGT p.G750G NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 750 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGCCTATGGGCTATGGGCCTC 0.413000 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome SCUBE1 80274 broad.mit.edu 37 22 43735227 43735227 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:43735227C>T uc003bdt.1 - 2 191 c.103G>A c.(103-105)GAT>AAT p.D35N SCUBE1_uc003bdu.1_Missense_Mutation_p.D35N NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 35 EGF-like 1; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) GAGCACTCATCCACGTCGACT 0.597000 EFCAB6 64800 broad.mit.edu 37 22 43926830 43926830 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:43926830C>T uc003bdy.1 - 31 4463 c.4248G>A c.(4246-4248)GCG>GCA p.A1416A EFCAB6_uc003bdz.1_Silent_p.A1264A|EFCAB6_uc010gzi.1_Silent_p.A1264A NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1416 Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATGGCGTCTCCGCGCCGGCTT 0.468000 FBLN1 2192 broad.mit.edu 37 22 45923855 45923855 + Silent SNP C C T rs141549958 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:45923855C>T uc003bgj.1 + 4 597 c.450C>T c.(448-450)ACC>ACT p.T150T FBLN1_uc003bgg.1_Silent_p.T150T|FBLN1_uc003bgh.2_Silent_p.T150T|FBLN1_uc010gzz.2_Silent_p.T188T|FBLN1_uc003bgi.1_Silent_p.T150T NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 150 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCCAGGAGACCGGAGATTTGG 0.502000 TTC38 55020 broad.mit.edu 37 22 46679905 46679905 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:46679905C>A uc003bhi.2 + 8 847 c.771C>A c.(769-771)CAC>CAA p.H257Q TTC38_uc011aqx.1_Missense_Mutation_p.H199Q NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 257 TPR 3. binding ovary(1) 1 ACTATTGGCACTGGGCTTTAT 0.358000 LMCD1 29995 broad.mit.edu 37 3 8590329 8590329 + Missense_Mutation SNP C C T rs145385804 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:8590329C>T uc003bqq.2 + 4 577 c.463C>T c.(463-465)CGC>TGC p.R155C LMCD1_uc011atd.1_Missense_Mutation_p.R82C|LMCD1_uc011ate.1_Missense_Mutation_p.R43C|LMCD1_uc011atf.1_Missense_Mutation_p.R82C NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 155 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) TTACCGCCGCCGCCAGCTCAT 0.562000 BRPF1 7862 broad.mit.edu 37 3 9776020 9776020 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:9776020C>T uc003bse.2 + 2 595 c.196C>T c.(196-198)CGC>TGC p.R66C BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 66 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GAAAAAGGGGCGCCAGTCACG 0.572000 BRPF1 7862 broad.mit.edu 37 3 9776143 9776143 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:9776143G>A uc003bse.2 + 2 718 c.319G>A c.(319-321)GTC>ATC p.V107I BRPF1_uc003bsf.2_Missense_Mutation_p.V107I|BRPF1_uc003bsg.2_Missense_Mutation_p.V107I|BRPF1_uc011ati.1_Missense_Mutation_p.V107I NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 107 Interaction with MYST3 and MYST4. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GCATGGCCGCGTCCACCGCAT 0.602000 PPARG 5468 broad.mit.edu 37 3 12458573 12458573 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:12458573A>G uc003bwx.2 + 6 1281 c.1190A>G c.(1189-1191)GAG>GGG p.E397G PPARG_uc003bwr.2_Missense_Mutation_p.E369G|PPARG_uc003bws.2_Missense_Mutation_p.E369G|PPARG_uc003bwu.2_Missense_Mutation_p.E369G|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 397 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCCAAGTTTGAGTTTGCTGTG 0.428000 T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension NR2C2 7182 broad.mit.edu 37 3 15045441 15045441 + Missense_Mutation SNP G G A rs146761800 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:15045441G>A uc003bzj.3 + 2 237 c.20G>A c.(19-21)CGC>CAC p.R7H NR2C2_uc003bzi.2_Missense_Mutation_p.R7H NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 7 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 CCCTCCCCACGCATCCAGATA 0.562000 ANKRD28 23243 broad.mit.edu 37 3 15755084 15755084 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:15755084G>A uc003caj.1 - 10 1193 c.1050C>T c.(1048-1050)GGC>GGT p.G350G ANKRD28_uc003cai.1_Silent_p.G196G|ANKRD28_uc011avz.1_Silent_p.G196G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.G380G|ANKRD28_uc003cam.2_Silent_p.G383G NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 350 ANK 10. nucleoplasm protein binding breast(1) 1 GCAGCTCATGGCCATACCGTG 0.453000 PLCD1 5333 broad.mit.edu 37 3 38052911 38052911 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:38052911G>T uc003chn.2 - 5 708 c.584C>A c.(583-585)TCC>TAC p.S195Y PLCD1_uc003chm.2_Missense_Mutation_p.S216Y NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 195 2 (Potential).|EF-hand 2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GTCCTCCAGGGAGTCTGTCTG 0.662000 XYLB 9942 broad.mit.edu 37 3 38404473 38404473 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:38404473T>A uc003cic.2 + 4 365 c.256T>A c.(256-258)TTC>ATC p.F86I XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.F8I NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 86 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GGGCTTCGACTTCTCTCAAGT 0.527000 TTC21A 199223 broad.mit.edu 37 3 39174572 39174572 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:39174572G>A uc003cjc.2 + 20 2790 c.2613G>A c.(2611-2613)AAG>AAA p.K871K TTC21A_uc003cje.2_Silent_p.K872K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.K823K|TTC21A_uc011ayy.1_5'UTR|TTC21A_uc003cjf.2_5'UTR NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A isoform 2 871 binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGATACTGAAGCGAGTTCCAC 0.498000 TRAK1 22906 broad.mit.edu 37 3 42264629 42264629 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:42264629C>T uc003cky.2 + 16 2478 c.2262C>T c.(2260-2262)TAC>TAT p.Y754Y TRAK1_uc011azi.1_Silent_p.Y733Y NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 754 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CTGCCGTGTACGACCCCCAGA 0.637000 ZBTB47 92999 broad.mit.edu 37 3 42701286 42701286 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:42701286T>A uc003clu.1 + 1 413 c.311T>A c.(310-312)CTG>CAG p.L104Q NM_145166 NP_660149 Q9UFB7 ZBT47_HUMAN zinc finger protein 651 104 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.216) GAGCTGCTGCTGCACAGGCAG 0.632000 CCDC13 152206 broad.mit.edu 37 3 42777197 42777197 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:42777197A>G uc003cly.3 - 10 1455 c.1371_splice c.e10+1 p.H457_splice NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 ovary(1) 1 TGCCCTACTCACGTGCACATT 0.582000 ZNF167 55888 broad.mit.edu 37 3 44598765 44598765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:44598765C>T uc010hin.2 + 2 614 c.226C>T c.(226-228)CGG>TGG p.R76W ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R76W|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R76W|ZNF167_uc003cnk.2_Missense_Mutation_p.R76W NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 76 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GAGCCGGCTTCGGGAGCTCTG 0.582000 KIF15 56992 broad.mit.edu 37 3 44816853 44816853 + Missense_Mutation SNP C C T rs147576633 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:44816853C>T uc003cnx.3 + 3 319 c.170C>T c.(169-171)ACG>ATG p.T57M KIF15_uc010hiq.2_Translation_Start_Site NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 57 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTGTCCTCCACGAGTCTCCGG 0.473000 FYCO1 79443 broad.mit.edu 37 3 46008021 46008021 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:46008021G>A uc003cpb.3 - 8 3011 c.2805C>T c.(2803-2805)GAC>GAT p.D935D FYCO1_uc011bal.1_Silent_p.D935D NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 935 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CCTCTTTGGCGTCCTGGAGCT 0.622000 PTPN23 25930 broad.mit.edu 37 3 47453286 47453286 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:47453286G>A uc003crf.1 + 21 3998 c.3902G>A c.(3901-3903)CGC>CAC p.R1301H PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R1171H|uc003cri.2_5'Flank NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 1301 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAAGTGGCACGCTACTTCCCC 0.647000 SCAP 22937 broad.mit.edu 37 3 47460866 47460866 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:47460866C>T uc003crh.1 - 13 2147 c.1892G>A c.(1891-1893)CGC>CAC p.R631H SCAP_uc011baz.1_Missense_Mutation_p.R376H|SCAP_uc003crg.2_Missense_Mutation_p.R239H NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 631 Lumenal (By similarity). 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 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CGGCCAGTGGCGGAAGGACAA 0.582000 USP4 7375 broad.mit.edu 37 3 49321537 49321537 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:49321537G>A uc003cwq.2 - 19 2502 c.2423C>T c.(2422-2424)GCC>GTC p.A808V USP4_uc003cwo.2_Missense_Mutation_p.A520V|USP4_uc003cwp.2_Missense_Mutation_p.A538V|USP4_uc003cwr.2_Missense_Mutation_p.A761V NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 808 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) CTTTTTTGTGGCCTGTTGATG 0.512000 BSN 8927 broad.mit.edu 37 3 49689135 49689135 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:49689135C>T uc003cxe.3 + 5 2260 c.2146C>T c.(2146-2148)CCA>TCA p.P716S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 716 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGTGACAGGGCCACATCCACC 0.632000 UBA7 7318 broad.mit.edu 37 3 49850959 49850959 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:49850959T>C uc003cxr.2 - 2 349 c.178A>G c.(178-180)ACT>GCT p.T60A NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 60 2 approximate repeats.|1-1. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TCATGCAGAGTGAGGCTGCCC 0.662000 CAMKV 79012 broad.mit.edu 37 3 49898646 49898646 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:49898646T>C uc003cxt.1 - 6 722 c.529A>G c.(529-531)ATC>GTC p.I177V CAMKV_uc011bcy.1_Missense_Mutation_p.I102V|CAMKV_uc003cxv.1_Missense_Mutation_p.I177V|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I177V|CAMKV_uc011bcz.1_Missense_Mutation_p.I140V|CAMKV_uc011bda.1_Missense_Mutation_p.I134V|CAMKV_uc011bdb.1_RNA NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 177 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGCTCCTTGATGAGGCCATTT 0.577000 RBM6 10180 broad.mit.edu 37 3 50005642 50005642 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:50005642C>T uc003cyc.2 + 3 917 c.784C>T c.(784-786)CGA>TGA p.R262* RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 262 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGGTAGACACCGATCTAGGAC 0.448000 DOCK3 1795 broad.mit.edu 37 3 51418626 51418626 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:51418626G>A uc011bds.1 + 53 5752 c.5729G>A c.(5728-5730)CGC>CAC p.R1910H NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1910 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCCCCACCTCGCACTGACACC 0.607000 TEX264 51368 broad.mit.edu 37 3 51708379 51708379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:51708379C>T uc010hls.2 + 3 228 c.59C>T c.(58-60)ACG>ATG p.T20M TEX264_uc003dbk.3_Missense_Mutation_p.T20M|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.T20M|TEX264_uc003dbm.3_Missense_Mutation_p.T59M NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 20 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) CTGCTGCTGACGCTGCTGGCC 0.607000 GRM2 2912 broad.mit.edu 37 3 51746637 51746637 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:51746637G>A uc010hlv.2 + 3 838 c.599G>A c.(598-600)CGC>CAC p.R200H GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 200 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 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) GAGATTCTCCGCTTCTTCAAC 0.562000 GRM2 2912 broad.mit.edu 37 3 51746765 51746765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:51746765C>T uc010hlv.2 + 3 966 c.727C>T c.(727-729)CGT>TGT p.R243C GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 243 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 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) GAAAGTGGGCCGTGCCATGAG 0.647000 SFMBT1 51460 broad.mit.edu 37 3 52941085 52941085 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:52941085C>A uc003dgf.2 - 20 2900 c.2331G>T c.(2329-2331)AAG>AAT p.K777N SFMBT1_uc010hmr.2_Missense_Mutation_p.K724N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K777N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K777N NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 777 regulation of transcription, DNA-dependent nucleus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TAAATGGTACCTTTGGTGAAG 0.353000 SLMAP 7871 broad.mit.edu 37 3 57913112 57913112 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:57913112A>G uc003dje.1 + 22 2689 c.2484A>G c.(2482-2484)CCA>CCG p.P828P SLMAP_uc003djd.1_Silent_p.P811P|SLMAP_uc003djf.1_Silent_p.P790P|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.P296P|SLMAP_uc011bfa.1_Silent_p.P362P|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.P362P|SLMAP_uc011bfc.1_3'UTR NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 828 Extracellular (Potential). muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GAGCTTCTCCATGAGAGCGTT 0.542000 MAGI1 9223 broad.mit.edu 37 3 65479197 65479197 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:65479197G>A uc003dmn.2 - 3 1066 c.540C>T c.(538-540)GGC>GGT p.G180G MAGI1_uc003dmm.2_Silent_p.G180G|MAGI1_uc003dmo.2_Silent_p.G180G|MAGI1_uc003dmp.2_Silent_p.G180G|MAGI1_uc010hny.2_Silent_p.G64G|MAGI1_uc003dmr.2_Silent_p.G180G NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 180 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 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) CTTCATAGGTGCCGACTTCCA 0.493000 FRMD4B 23150 broad.mit.edu 37 3 69246143 69246143 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:69246143G>A uc003dnv.2 - 13 1290 c.1000C>T c.(1000-1002)CAA>TAA p.Q334* FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.Q178* NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 334 FERM. cytoplasm|cytoskeleton binding ovary(3)|central_nervous_system(1) 4 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TACCATGTTTGCACAAACAAG 0.408000 PDZRN3 23024 broad.mit.edu 37 3 73433872 73433872 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:73433872G>A uc003dpl.1 - 10 1941 c.1845C>T c.(1843-1845)AGC>AGT p.S615S PDZRN3_uc011bgh.1_Silent_p.S272S|PDZRN3_uc010hoe.1_Silent_p.S313S|PDZRN3_uc011bgf.1_Silent_p.S332S|PDZRN3_uc011bgg.1_Silent_p.S335S NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 615 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCAGGTCGCCGCTGCCCAAGG 0.657000 IMPG2 50939 broad.mit.edu 37 3 100986374 100986374 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:100986374A>G uc003duq.1 - 9 1092 c.889T>C c.(889-891)TCC>CCC p.S297P IMPG2_uc011bhe.1_Missense_Mutation_p.S160P NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 297 Extracellular (Potential).|SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TCCTTGGGGGACCTGAAAACA 0.363000 DPPA2 151871 broad.mit.edu 37 3 109027089 109027089 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:109027089G>A uc003dxo.2 - 6 695 c.448C>T c.(448-450)CGC>TGC p.R150C NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 150 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 ACTGCCTTGCGTTTCCTCGAA 0.448000 ATP6V1A 523 broad.mit.edu 37 3 113513964 113513964 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:113513964C>T uc003eao.2 + 10 1205 c.1139C>T c.(1138-1140)GCC>GTC p.A380V ATP6V1A_uc011bik.1_Missense_Mutation_p.A347V NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 380 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 TATCTTGGTGCCCGTCTGGCC 0.443000 DRD3 1814 broad.mit.edu 37 3 113850211 113850211 + Missense_Mutation SNP G G A rs149736958 by1000genomes TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:113850211G>A uc003ebd.2 - 7 1183 c.760C>T c.(760-762)CGT>TGT p.R254C DRD3_uc010hqn.1_Missense_Mutation_p.R254C|DRD3_uc003ebb.1_Missense_Mutation_p.R254C|DRD3_uc003ebc.1_Missense_Mutation_p.R254C NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 254 Cytoplasmic. 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 p.R254H(1) ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CTGTAGTAACGCTTCAGCTCC 0.512000 NR1I2 8856 broad.mit.edu 37 3 119534274 119534274 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:119534274C>A uc003edj.2 + 7 2881 c.1042C>A c.(1042-1044)CTC>ATC p.L348I NR1I2_uc003edi.2_Missense_Mutation_p.L311I|NR1I2_uc003edk.2_Missense_Mutation_p.L387I|NR1I2_uc003edl.2_Missense_Mutation_p.L236I NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 348 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) GGCCATCTCCCTCTTCTCCCC 0.572000 MCM2 4171 broad.mit.edu 37 3 127335932 127335932 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:127335932G>T uc003ejp.2 + 10 1801 c.1744G>T c.(1744-1746)GGA>TGA p.G582* MCM2_uc011bkm.1_Nonsense_Mutation_p.G452*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.G535* NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 582 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 GGCTGACCGAGGAGTGTGTCT 0.642000 IFT122 55764 broad.mit.edu 37 3 129221612 129221612 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:129221612G>A uc003emm.2 + 20 2640 c.2434G>A c.(2434-2436)GCT>ACT p.A812T IFT122_uc003eml.2_Missense_Mutation_p.A863T|IFT122_uc003emn.2_Missense_Mutation_p.A753T|IFT122_uc003emo.2_Missense_Mutation_p.A701T|IFT122_uc003emp.2_Missense_Mutation_p.A662T|IFT122_uc010htc.2_Missense_Mutation_p.A804T|IFT122_uc011bky.1_Missense_Mutation_p.A603T|IFT122_uc003emq.2_Missense_Mutation_p.A652T|IFT122_uc003emr.2_Missense_Mutation_p.A564T|IFT122_uc011bla.1_Missense_Mutation_p.A585T|IFT122_uc010hte.2_Missense_Mutation_p.A138T|IFT122_uc003ems.2_Missense_Mutation_p.A193T|IFT122_uc011bkx.1_Missense_Mutation_p.A652T|IFT122_uc010htd.1_Missense_Mutation_p.A291T NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 812 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 GCTGCTGTGCGCTACCTACCT 0.572000 RHO 6010 broad.mit.edu 37 3 129249797 129249797 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:129249797G>A uc003emt.2 + 2 535 c.440G>A c.(439-441)CGC>CAC p.R147H NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 147 Cytoplasmic. protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) AGCAACTTCCGCTTCGGGGAG 0.637000 COL6A6 131873 broad.mit.edu 37 3 130287372 130287372 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:130287372T>C uc010htl.2 + 5 2356 c.2325T>C c.(2323-2325)GTT>GTC p.V775V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 775 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCGAGATGGTTTTTTATGTTG 0.473000 ACAD11 84129 broad.mit.edu 37 3 132322160 132322160 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:132322160C>A uc003eov.3 - 13 1914 c.1534G>T c.(1534-1536)GCT>TCT p.A512S ACAD11_uc011blr.1_Missense_Mutation_p.A123S NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 512 FAD.|FAD. peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 TCACTTGAAGCTACATCAGGT 0.368000 DZIP1L 199221 broad.mit.edu 37 3 137790602 137790602 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:137790602G>A uc003erq.2 - 12 1861 c.1498C>T c.(1498-1500)CGG>TGG p.R500W DZIP1L_uc003err.1_Missense_Mutation_p.R500W NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 500 intracellular zinc ion binding ovary(1)|pancreas(1) 2 GAAAACTTCCGGGCCTTCTGC 0.537000 TRIM42 287015 broad.mit.edu 37 3 140401535 140401535 + Silent SNP C C T rs143917166 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:140401535C>T uc003eto.1 + 2 764 c.573C>T c.(571-573)TGC>TGT p.C191C NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 191 RING-type. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GCCCAGTGTGCGACCGCTCGC 0.617000 ATR 545 broad.mit.edu 37 3 142277486 142277486 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:142277486C>T uc003eux.3 - 8 1987 c.1865G>A c.(1864-1866)TGT>TAT p.C622Y NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 622 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TGAAATCCTACAGCTTAATGT 0.294000 Other_conserved_DNA_damage_response_genes C3orf58 205428 broad.mit.edu 37 3 143708636 143708636 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:143708636A>G uc003evo.2 + 3 1781 c.1246A>G c.(1246-1248)AAA>GAA p.K416E C3orf58_uc011bnl.1_Missense_Mutation_p.K207E NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 416 COPI vesicle coat|extracellular region ovary(1) 1 CCAGGCTGCAAAAGAACTGCG 0.448000 P2RY14 9934 broad.mit.edu 37 3 150931269 150931269 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:150931269A>G uc003eyr.1 - 3 1314 c.836T>C c.(835-837)TTC>TCC p.F279S MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F279S NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 279 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAGCAGAGTGAATTCTTTCAT 0.388000 MBNL1 4154 broad.mit.edu 37 3 152165478 152165478 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:152165478G>A uc003ezm.2 + 6 1720 c.931G>A c.(931-933)GCA>ACA p.A311T MBNL1_uc003ezh.2_Missense_Mutation_p.A293T|MBNL1_uc003ezi.2_Missense_Mutation_p.A293T|MBNL1_uc003ezj.2_Missense_Mutation_p.A254T|MBNL1_uc003ezl.2_Missense_Mutation_p.A293T|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Missense_Mutation_p.A225T|MBNL1_uc003ezo.2_Missense_Mutation_p.A225T|MBNL1_uc010hvp.2_Intron NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN muscleblind-like 1 isoform c 311 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CGGTGCCACCGCAGTCTTTAA 0.443000 DHX36 170506 broad.mit.edu 37 3 154006670 154006670 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:154006670T>C uc003ezy.3 - 17 2097 c.2016A>G c.(2014-2016)AGA>AGG p.R672R DHX36_uc010hvq.2_Silent_p.R658R|DHX36_uc003ezz.3_Silent_p.R672R NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 672 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCATCAGGTGTCTTATGGAGA 0.348000 BCHE 590 broad.mit.edu 37 3 165548072 165548072 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:165548072C>T uc003fem.3 - 2 910 c.750G>A c.(748-750)CTG>CTA p.L250L BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 250 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) ATCCACTTTGCAGAATGGCTC 0.438000 PIK3CA 5290 broad.mit.edu 37 3 178928348 178928348 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:178928348G>T uc003fjk.2 + 9 1691 c.1534G>T c.(1534-1536)GGA>TGA p.G512* NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 512 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTCCCACGCAGGACTGGTAAG 0.398000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GNB4 59345 broad.mit.edu 37 3 179131207 179131207 + Missense_Mutation SNP G G C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:179131207G>C uc003fjv.3 - 8 972 c.692C>G c.(691-693)GCT>GGT p.A231G GNB4_uc003fju.3_Missense_Mutation_p.A142G NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 231 WD 5. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) TACACTGACAGCATTGATATC 0.363000 YEATS2 55689 broad.mit.edu 37 3 183521825 183521825 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:183521825G>A uc003fly.2 + 27 3828 c.3633G>A c.(3631-3633)AAG>AAA p.K1211K uc003fma.1_3'UTR NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1211 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCTGGAGAAGAATCCGAGAT 0.453000 ABCC5 10057 broad.mit.edu 37 3 183655752 183655752 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:183655752G>A uc003fmg.2 - 26 3956 c.3791C>T c.(3790-3792)GCC>GTC p.A1264V ABCC5_uc011bqt.1_Missense_Mutation_p.A792V|ABCC5_uc010hxl.2_Missense_Mutation_p.A1221V NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1264 ABC transporter 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCGGAGGTCGGCAAGGCCAAT 0.547000 HTR3C 170572 broad.mit.edu 37 3 183778041 183778041 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:183778041G>T uc003fmk.2 + 9 1279 c.1245G>T c.(1243-1245)TGG>TGT p.W415C NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 415 Cytoplasmic (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGGAGCTGTGGGTGCAGTTCA 0.587000 CLCN2 1181 broad.mit.edu 37 3 184064539 184064539 + Missense_Mutation SNP C C T rs149460784 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:184064539C>T uc003foi.2 - 24 2676 c.2552G>A c.(2551-2553)CGG>CAG p.R851Q CLCN2_uc003foh.2_Missense_Mutation_p.R340Q|CLCN2_uc010hya.1_Missense_Mutation_p.R834Q|CLCN2_uc011brl.1_Missense_Mutation_p.R822Q|CLCN2_uc011brm.1_Missense_Mutation_p.R807Q NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 851 Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GAGGGGCGGCCGGACTTTCAC 0.637000 EPHB3 2049 broad.mit.edu 37 3 184290449 184290449 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:184290449G>A uc003foz.2 + 3 778 c.341G>A c.(340-342)CGT>CAT p.R114H NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 114 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TTCACTGTGCGTGACTGCAAC 0.597000 KNG1 3827 broad.mit.edu 37 3 186450357 186450357 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:186450357G>A uc011bsa.1 + 7 1036 c.824G>A c.(823-825)AGC>AAC p.S275N KNG1_uc003fqr.2_Missense_Mutation_p.S275N NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 275 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) CCCACCAACAGCCCAGAGCTG 0.438000 LEPREL1 55214 broad.mit.edu 37 3 189689785 189689785 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:189689785T>C uc011bsk.1 - 12 2099 c.1711A>G c.(1711-1713)AGA>GGA p.R571G LEPREL1_uc003fsg.2_Missense_Mutation_p.R390G NM_018192 NP_060662 Q8IVL5 P3H2_HUMAN leprecan-like 1 isoform a 571 Fe2OG dioxygenase. 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 breast(3)|ovary(1) 4 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) TCATTTCTTCTATCCTGCTGA 0.478000 MUC4 4585 broad.mit.edu 37 3 195515860 195515860 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:195515860G>A uc011bto.1 - 2 3051 c.2591C>T c.(2590-2592)GCG>GTG p.A864V MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A746V NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 869 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 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) GATCGAAGACGCCATTCCTGT 0.582000 PCYT1A 5130 broad.mit.edu 37 3 195974240 195974240 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:195974240G>A uc003fwg.2 - 6 657 c.484C>T c.(484-486)CGG>TGG p.R162W PCYT1A_uc003fwh.2_Missense_Mutation_p.R162W NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 162 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259) Choline(DB00122) TTTCTTACCCGGTGTTCGGCC 0.547000 LRCH3 84859 broad.mit.edu 37 3 197593070 197593070 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:197593070T>G uc011bul.1 + 17 1858 c.1853T>G c.(1852-1854)GTC>GGC p.V618G LRCH3_uc003fyj.1_Missense_Mutation_p.V618G|LRCH3_uc011bum.1_Missense_Mutation_p.V566G|LRCH3_uc011bun.1_Missense_Mutation_p.V464G|LRCH3_uc003fyk.2_Missense_Mutation_p.V213G NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 618 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CGAGCAGGTGTCAGGGCAGAA 0.468000 ZNF718 255403 broad.mit.edu 37 4 53308 53308 + Splice_Site SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:53308G>A uc003fzt.3 + 3 64 c.-69_splice c.e3+1 ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CACAGCCTCTGCCTCCCGTTG 0.607000 CTBP1 1487 broad.mit.edu 37 4 1207290 1207290 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:1207290G>A uc003gcv.1 - 7 1162 c.997C>T c.(997-999)CGG>TGG p.R333W uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.R314W|CTBP1_uc003gcu.1_Missense_Mutation_p.R322W|CTBP1_uc003gcw.2_Missense_Mutation_p.R7W NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 333 Interaction with GLIS2 2 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) CGGATCTCCCGTGCCGCCTCC 0.667000 ZFYVE28 57732 broad.mit.edu 37 4 2306637 2306637 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:2306637C>A uc003gex.1 - 8 1749 c.1430G>T c.(1429-1431)AGC>ATC p.S477I ZFYVE28_uc011bvk.1_Missense_Mutation_p.S407I|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S447I|ZFYVE28_uc003gew.1_Missense_Mutation_p.S363I NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 477 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GCTGCAGGAGCTGGTGCCCGC 0.682000 AFAP1 60312 broad.mit.edu 37 4 7802207 7802207 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:7802207G>A uc003gkg.1 - 10 1501 c.1228C>T c.(1228-1230)CGG>TGG p.R410W AFAP1_uc011bwk.1_Missense_Mutation_p.R410W NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 410 PH 2. actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 CGCAGCAGCCGGAACGTCAGA 0.552000 ACOX3 8310 broad.mit.edu 37 4 8398700 8398700 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:8398700C>A uc010idk.2 - 9 1165 c.1020G>T c.(1018-1020)GAG>GAT p.E340D ACOX3_uc003glc.3_Missense_Mutation_p.E340D|ACOX3_uc003gld.3_Missense_Mutation_p.E340D|ACOX3_uc003gle.1_Missense_Mutation_p.E245D NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 340 Poly-Glu. bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 TTTCCTCCTCCTCTGTGGGTC 0.498000 CPEB2 132864 broad.mit.edu 37 4 15063798 15063798 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:15063798C>T uc003gni.1 + 10 1543 c.1456C>T c.(1456-1458)CGA>TGA p.R486* CPEB2_uc003gnj.1_Nonsense_Mutation_p.R456*|CPEB2_uc003gnk.1_Nonsense_Mutation_p.R494*|CPEB2_uc003gnl.1_Nonsense_Mutation_p.R467*|CPEB2_uc003gnm.1_Nonsense_Mutation_p.R464*|CPEB2_uc003gnn.1_Nonsense_Mutation_p.R459* NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 486 RRM 2. regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 AGGTGCTGGGCGAGTTGCTTT 0.433000 QDPR 5860 broad.mit.edu 37 4 17493907 17493907 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:17493907C>T uc003gpd.2 - 5 673 c.493G>A c.(493-495)GCT>ACT p.A165T QDPR_uc003gpe.2_Missense_Mutation_p.A134T|QDPR_uc003gpf.2_Intron NM_000320 NP_000311 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 165 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity ovary(1) 1 NADH(DB00157) TTCTTCCCAGCCAGGCTCTGG 0.652000 KLB 152831 broad.mit.edu 37 4 39409172 39409172 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:39409172A>G uc003gua.2 + 1 700 c.603A>G c.(601-603)GCA>GCG p.A201A KLB_uc011byj.1_Silent_p.A201A NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 201 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 TGCCTTTGGCACTACAAGAAA 0.403000 RPL9 6133 broad.mit.edu 37 4 39458044 39458044 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:39458044T>C uc003gub.2 - 4 521 c.373A>G c.(373-375)AGG>GGG p.R125G RPL9_uc003guc.2_Missense_Mutation_p.R125G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R125G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank NM_001024921 NP_001020092 P32969 RL9_HUMAN ribosomal protein L9 125 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome skin(1) 1 ATCCGAACCCTGCGGATATAT 0.413000 KCTD8 386617 broad.mit.edu 37 4 44450159 44450159 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:44450159C>A uc003gwu.2 - 1 666 c.382G>T c.(382-384)GAG>TAG p.E128* NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 128 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 AGCAGCCGCTCCTTCTCGGGG 0.612000 HNSCC(17;0.042) GUF1 60558 broad.mit.edu 37 4 44683221 44683221 + Splice_Site SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:44683221G>A uc003gww.3 + 4 714 c.507_splice c.e4+1 p.E169_splice GUF1_uc010ifz.1_Splice_Site NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 TGCAAATGAGGTAGGTATTTT 0.323000 CORIN 10699 broad.mit.edu 37 4 47682178 47682178 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:47682178T>G uc003gxm.2 - 8 1205 c.1112A>C c.(1111-1113)AAG>ACG p.K371T CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 371 Extracellular (Potential).|LDL-receptor class A 3. 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 ovary(1)|central_nervous_system(1) 2 CTCGTCAGACTTATCCACACA 0.507000 TECRL 253017 broad.mit.edu 37 4 65170906 65170906 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:65170906A>G uc003hcv.2 - 7 817 c.708T>C c.(706-708)AAT>AAC p.N236N TECRL_uc003hcw.2_Silent_p.N236N NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 236 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 ATAGTGGATGATTAATGTAGT 0.299000 UBA6 55236 broad.mit.edu 37 4 68536191 68536191 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:68536191C>T uc003hdg.3 - 8 718 c.666G>A c.(664-666)ACG>ACA p.T222T UBA6_uc003hdi.2_Silent_p.T222T|UBA6_uc003hdj.2_Silent_p.T222T NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 222 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 ATCATACTTGCGTTATGTTTG 0.299000 YTHDC1 91746 broad.mit.edu 37 4 69182091 69182091 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:69182091G>A uc003hdx.2 - 16 2253 c.1900C>T c.(1900-1902)CCC>TCC p.P634S YTHDC1_uc003hdy.2_Missense_Mutation_p.P616S NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 634 Pro-rich. upper_aerodigestive_tract(1)|ovary(1) 2 GAGTAAGGGGGATGAGCTTGA 0.463000 MUC7 4589 broad.mit.edu 37 4 71346631 71346631 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:71346631C>T uc011cat.1 + 4 458 c.170C>T c.(169-171)CCG>CTG p.P57L MUC7_uc011cau.1_Missense_Mutation_p.P57L|MUC7_uc003hfj.2_Missense_Mutation_p.P57L|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 57 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CACCAGAAGCCGTTCATTAGA 0.458000 ADAMTS3 9508 broad.mit.edu 37 4 73414328 73414328 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:73414328A>G uc003hgk.1 - 3 408 c.371T>C c.(370-372)ATT>ACT p.I124T NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 124 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGGTTGTTAATGGGATCGGT 0.483000 FRAS1 80144 broad.mit.edu 37 4 79400796 79400796 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:79400796G>T uc003hlb.2 + 56 8807 c.8367G>T c.(8365-8367)AAG>AAT p.K2789N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2784 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CGACAGCCAAGGTGCTCATTA 0.522000 FAM175A 84142 broad.mit.edu 37 4 84391425 84391425 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:84391425G>A uc003hou.2 - 5 472 c.407C>T c.(406-408)ACA>ATA p.T136I FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Missense_Mutation_p.T27I NM_139076 NP_620775 Q6UWZ7 F175A_HUMAN coiled-coil domain containing 98 136 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding kidney(1) 1 TATACTTGGTGTTAATAGCAG 0.393000 FAM13A 10144 broad.mit.edu 37 4 89950632 89950632 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:89950632C>G uc003hse.1 - 2 404 c.196G>C c.(196-198)GTG>CTG p.V66L FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.V66L|FAM13A_uc003hsj.2_Missense_Mutation_p.V66L NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 66 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 AAATATTCCACTATATTCCAC 0.393000 GPRIN3 285513 broad.mit.edu 37 4 90170138 90170138 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:90170138C>T uc003hsm.1 - 2 1643 c.1124G>A c.(1123-1125)AGC>AAC p.S375N NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 375 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GGCTAGCGTGCTGTCAGAGAG 0.562000 NHEDC1 150159 broad.mit.edu 37 4 103866441 103866441 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:103866441C>T uc003hww.2 - 6 684 c.562G>A c.(562-564)GCT>ACT p.A188T NHEDC1_uc003hwu.2_Missense_Mutation_p.A188T|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 188 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) GGACCTACAGCCAATCTGAAA 0.383000 NPNT 255743 broad.mit.edu 37 4 106888380 106888380 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:106888380C>T uc003hya.2 + 11 1586 c.1381C>T c.(1381-1383)CCA>TCA p.P461S NPNT_uc011cfc.1_Missense_Mutation_p.P478S|NPNT_uc011cfd.1_Missense_Mutation_p.P491S|NPNT_uc011cfe.1_Missense_Mutation_p.P462S|NPNT_uc010ilt.1_Missense_Mutation_p.P432S|NPNT_uc011cff.1_Missense_Mutation_p.P432S|NPNT_uc010ilu.1_Intron NM_001033047 NP_001028219 Q6UXI9 NPNT_HUMAN nephronectin precursor 461 MAM. cell differentiation membrane calcium ion binding skin(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AGCCAAAGCCCCAGGGGGAAA 0.562000 ALPK1 80216 broad.mit.edu 37 4 113346862 113346862 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:113346862C>T uc003iap.3 + 7 856 c.577C>T c.(577-579)CAG>TAG p.Q193* ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Nonsense_Mutation_p.Q193*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.Q115*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_5'UTR NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 193 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GGTCCTGGTGCAGTCGGTCTG 0.403000 LARP7 51574 broad.mit.edu 37 4 113567814 113567814 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:113567814G>A uc003iay.2 + 4 652 c.374G>A c.(373-375)CGC>CAC p.R125H LARP7_uc003iaz.2_Missense_Mutation_p.R132H|LARP7_uc003iba.2_Missense_Mutation_p.R46H|LARP7_uc003ibb.2_Missense_Mutation_p.R125H NM_016648 NP_057732 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 125 RRM. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding ovary(3) 3 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GAGGATGAACGCACAGTGTAT 0.363000 NDST3 9348 broad.mit.edu 37 4 119163293 119163293 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:119163293A>C uc003ibx.2 + 12 2791 c.2388A>C c.(2386-2388)TCA>TCC p.S796S NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 796 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 ATAATTACTCAGAAGCTTTAA 0.338000 TNIP3 79931 broad.mit.edu 37 4 122062982 122062982 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:122062982G>A uc010ing.2 - 9 1070 c.874C>T c.(874-876)CGG>TGG p.R292W TNIP3_uc010inh.2_Missense_Mutation_p.R292W|TNIP3_uc011cgj.1_Missense_Mutation_p.R350W NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 292 ovary(1) 1 GGGTGCTCCCGTTGCTTCTGC 0.448000 KIAA1109 84162 broad.mit.edu 37 4 123107276 123107276 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:123107276T>C uc003ieh.2 + 5 489 c.444T>C c.(442-444)CTT>CTC p.L148L KIAA1109_uc003iei.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 148 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ATGGACGCCTTCAAGAGTTGT 0.373000 KIAA1109 84162 broad.mit.edu 37 4 123275094 123275094 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:123275094C>T uc003ieh.2 + 80 14272 c.14227C>T c.(14227-14229)CGT>TGT p.R4743C KIAA1109_uc003iem.2_Missense_Mutation_p.R1099C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4743 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GATAACAAGGCGTCGCCATGA 0.393000 SPATA5 166378 broad.mit.edu 37 4 123868515 123868515 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:123868515G>A uc003iez.3 + 9 1659 c.1586G>A c.(1585-1587)CGG>CAG p.R529Q SPATA5_uc003iey.2_Missense_Mutation_p.R528Q NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 529 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GCTCAGGACCGGCTAGATATT 0.522000 PCDH18 54510 broad.mit.edu 37 4 138451730 138451730 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:138451730A>G uc003ihe.3 - 1 1900 c.1513T>C c.(1513-1515)TTG>CTG p.L505L PCDH18_uc003ihf.3_Silent_p.L498L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.L285L|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 505 Extracellular (Potential).|Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AAACTCTCCAAGATGGTGTAT 0.393000 POU4F2 5458 broad.mit.edu 37 4 147561442 147561442 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:147561442G>A uc003ikv.2 + 2 960 c.712G>A c.(712-714)GCG>ACG p.A238T NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 238 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck 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 breast(1) 1 all_hematologic(180;0.151) CATGGCCCACGCGCACGGGCT 0.697000 EDNRA 1909 broad.mit.edu 37 4 148461084 148461084 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:148461084A>C uc003iky.2 + 6 1708 c.1016A>C c.(1015-1017)AAC>ACC p.N339T EDNRA_uc011cid.1_Missense_Mutation_p.N114T|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.N230T NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 339 Extracellular (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) ATGGACAAGAACCGATGTGAA 0.343000 FBXW7 55294 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:153249385G>A uc003ims.2 - 9 1542 c.1393C>T c.(1393-1395)CGT>TGT p.R465C FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 465 WD 3. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R465C(52)|p.R465H(36)|p.R465L(2) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 Mis|N|D|F colorectal|endometrial|T-ALL TLR2 7097 broad.mit.edu 37 4 154625775 154625775 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:154625775C>A uc003inq.2 + 3 1935 c.1716C>A c.(1714-1716)GGC>GGA p.G572G TLR2_uc003inr.2_Silent_p.G572G|TLR2_uc003ins.2_Silent_p.G572G NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 572 Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) ATGTGCGTGGCCAGCAGGTTC 0.552000 PLRG1 5356 broad.mit.edu 37 4 155458569 155458569 + Missense_Mutation SNP C C T rs144644967 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:155458569C>T uc003iny.2 - 14 1417 c.1354G>A c.(1354-1356)GCA>ACA p.A452T PLRG1_uc003inz.2_Missense_Mutation_p.A443T NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 452 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) TGCACAGCTGCGTGAACTCTC 0.438000 PLRG1 5356 broad.mit.edu 37 4 155459192 155459192 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:155459192T>A uc003iny.2 - 13 1283 c.1220A>T c.(1219-1221)CAA>CTA p.Q407L PLRG1_uc003inz.2_Missense_Mutation_p.Q398L NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 407 WD 5. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) GGAAAGATTTTGAATGAAACT 0.303000 TLL1 7092 broad.mit.edu 37 4 166964495 166964495 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:166964495G>A uc003irh.1 + 12 2095 c.1448G>A c.(1447-1449)CGC>CAC p.R483H TLL1_uc011cjn.1_Missense_Mutation_p.R483H|TLL1_uc011cjo.1_Missense_Mutation_p.R307H NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 483 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GATGACTATCGCCCGATGAAA 0.418000 CLCN3 1182 broad.mit.edu 37 4 170634343 170634343 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:170634343C>A uc003isi.2 + 12 2772 c.2263C>A c.(2263-2265)CTT>ATT p.L755I CLCN3_uc003ish.2_Missense_Mutation_p.L755I|CLCN3_uc011cjz.1_Missense_Mutation_p.L738I|CLCN3_uc011cka.1_Missense_Mutation_p.L728I|CLCN3_uc003isj.1_Missense_Mutation_p.L728I NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 755 CBS 2.|Cytoplasmic (By similarity). 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(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TCGAAGCATTCTTGACATGAG 0.493000 HELT 391723 broad.mit.edu 37 4 185941701 185941701 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:185941701G>A uc011ckq.1 + 4 759 c.759G>A c.(757-759)CCG>CCA p.P253P HELT_uc011cko.1_Silent_p.P168P|HELT_uc003ixa.3_Silent_p.P167P|HELT_uc011ckp.1_Silent_p.P111P NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 253 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CTGTGTTCCCGCAGGGCTCTG 0.746000 HELT 391723 broad.mit.edu 37 4 185941780 185941780 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:185941780C>T uc011ckq.1 + 4 838 c.838C>T c.(838-840)CCA>TCA p.P280S HELT_uc011cko.1_Missense_Mutation_p.P195S|HELT_uc003ixa.3_Missense_Mutation_p.P194S|HELT_uc011ckp.1_Missense_Mutation_p.P138S NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 280 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GCCCAGCGCGCCAGTGCCGCT 0.746000 PAPD7 11044 broad.mit.edu 37 5 6739961 6739961 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:6739961C>A uc003jdx.1 + 4 383 c.254C>A c.(253-255)GCT>GAT p.A85D PAPD7_uc011cmn.1_Missense_Mutation_p.A76D NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 85 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 CTTGACAAGGCTACGGTGAGT 0.582000 CTNND2 1501 broad.mit.edu 37 5 11364852 11364852 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:11364852T>C uc003jfa.1 - 8 1473 c.1328A>G c.(1327-1329)GAC>GGC p.D443G CTNND2_uc010itt.2_Missense_Mutation_p.D352G|CTNND2_uc011cmy.1_Missense_Mutation_p.D106G|CTNND2_uc011cmz.1_Missense_Mutation_p.D10G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D10G NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 443 D -> V (in Ref. 1; AAC63103). multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CGGCAGAGGGTCCCCCTGGCT 0.637000 DNAH5 1767 broad.mit.edu 37 5 13817727 13817727 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:13817727G>A uc003jfd.2 - 42 6960 c.6918C>T c.(6916-6918)GAC>GAT p.D2306D NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2306 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTGTGGCAACGTCCAGCCGAC 0.393000 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13923470 13923470 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:13923470G>A uc003jfd.2 - 4 399 c.357C>T c.(355-357)AAC>AAT p.N119N DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 119 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAGCCACATCGTTTCCCTCGG 0.453000 Kartagener_syndrome FBXL7 23194 broad.mit.edu 37 5 15500764 15500764 + Translation_Start_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:15500764C>T uc003jfn.1 + 1 460 c.-21C>T c.(-23--19)GACGG>GATGG NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TCCCGGGAGACGGCGGGCATG 0.687000 FBXL7 23194 broad.mit.edu 37 5 15936751 15936751 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:15936751T>C uc003jfn.1 + 4 1413 c.932T>C c.(931-933)CTG>CCG p.L311P NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 311 LRR 6. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 TGCGTCCGCCTGACCGACGAA 0.662000 MYO10 4651 broad.mit.edu 37 5 16672919 16672919 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:16672919T>C uc003jft.3 - 37 5656 c.5188A>G c.(5188-5190)ATC>GTC p.I1730V MYO10_uc011cnb.1_Missense_Mutation_p.I359V|MYO10_uc011cnc.1_Missense_Mutation_p.I609V|MYO10_uc011cnd.1_Missense_Mutation_p.I1087V|MYO10_uc011cne.1_Missense_Mutation_p.I1087V|MYO10_uc010itx.2_Missense_Mutation_p.I1352V NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1730 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 AGGCCTCGGATCAGCTTCTCC 0.557000 MYO10 4651 broad.mit.edu 37 5 16701393 16701393 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:16701393G>A uc003jft.3 - 25 3579 c.3111C>T c.(3109-3111)AAC>AAT p.N1037N MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.N394N|MYO10_uc011cne.1_Silent_p.N394N|MYO10_uc010itx.2_Silent_p.N660N NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1037 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CCACCGTGTCGTTCATGTATG 0.637000 CDH10 1008 broad.mit.edu 37 5 24509929 24509929 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:24509929C>T uc003jgr.1 - 7 1335 c.1003_splice c.e7-1 p.P335_splice CDH10_uc011cnu.1_Splice_Site NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGTCGAGTGGCTGTATAAAAA 0.368000 HNSCC(23;0.051) PDZD2 23037 broad.mit.edu 37 5 31983446 31983446 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:31983446T>C uc003jhl.2 + 3 1050 c.662T>C c.(661-663)GTC>GCC p.V221A PDZD2_uc003jhm.2_Missense_Mutation_p.V221A|PDZD2_uc011cnx.1_Missense_Mutation_p.V47A NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 221 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AAGTTTGGGGTCATCTCCAGG 0.567000 RXFP3 51289 broad.mit.edu 37 5 33937788 33937788 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:33937788G>A uc003jic.1 + 1 1300 c.943G>A c.(943-945)GGA>AGA p.G315R NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 315 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 ACGCCCGACCGGAGCCAGCGC 0.647000 NIPBL 25836 broad.mit.edu 37 5 37045628 37045628 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:37045628T>A uc003jkl.3 + 37 6926 c.6427T>A c.(6427-6429)TCC>ACC p.S2143T NIPBL_uc003jkk.3_Missense_Mutation_p.S2143T NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2143 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 ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 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) ACTTCTTAGATCCCTTTTCAC 0.348000 HEATR7B2 133558 broad.mit.edu 37 5 41004956 41004956 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:41004956T>C uc003jmj.3 - 36 4421 c.3931A>G c.(3931-3933)AGT>GGT p.S1311G HEATR7B2_uc003jmi.3_Missense_Mutation_p.S866G NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1311 binding ovary(6)|central_nervous_system(2) 8 TCCCAGGCACTTTGATCCATC 0.512000 HEATR7B2 133558 broad.mit.edu 37 5 41018858 41018858 + Nonsense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:41018858C>A uc003jmj.3 - 26 3098 c.2608G>T c.(2608-2610)GGA>TGA p.G870* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.G425* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 870 binding ovary(6)|central_nervous_system(2) 8 AGAAGTTTTCCTAGGGCGTCC 0.448000 C6 729 broad.mit.edu 37 5 41160334 41160334 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:41160334G>A uc003jmk.2 - 11 1804 c.1594C>T c.(1594-1596)CCC>TCC p.P532S C6_uc003jml.1_Missense_Mutation_p.P532S NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 532 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GAGAGGGTGGGTCGGCCATTA 0.483000 HCN1 348980 broad.mit.edu 37 5 45303873 45303873 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:45303873A>C uc003jok.2 - 6 1471 c.1446T>G c.(1444-1446)AAT>AAG p.N482K NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 482 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAGTCACAAAATTAGGATCCG 0.383000 ANKRD55 79722 broad.mit.edu 37 5 55471990 55471990 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:55471990C>T uc003jqu.2 - 4 453 c.301G>A c.(301-303)GCC>ACC p.A101T NM_024669 NP_078945 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 isoform 1 100 ANK 3. skin(1) 1 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) AGGTAGGTGGCCAGGCATAAA 0.532000 MAP3K1 4214 broad.mit.edu 37 5 56168713 56168713 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:56168713G>A uc003jqw.3 + 9 2068 c.1567G>A c.(1567-1569)GTA>ATA p.V523I NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 523 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like 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 ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GCAGCAAACCGTACAGCAGCA 0.413000 HTR1A 3350 broad.mit.edu 37 5 63256881 63256881 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:63256881C>T uc011cqt.1 - 1 666 c.666G>A c.(664-666)GCG>GCA p.A222A NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 222 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGCGGAAGCGCGCAGCTCGGA 0.562000 TMEM171 134285 broad.mit.edu 37 5 72419385 72419385 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:72419385C>T uc003kcm.2 + 2 389 c.185C>T c.(184-186)GCG>GTG p.A62V TMEM171_uc003kcn.3_Missense_Mutation_p.A62V NM_173490 NP_775761 Q8WVE6 TM171_HUMAN transmembrane protein 171 isoform 1 62 Helical; (Potential). integral to membrane 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) CTCAAGGTGGCGGGGCCTGCA 0.632000 F2RL1 2150 broad.mit.edu 37 5 76129543 76129543 + Nonsense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:76129543C>T uc003keo.2 + 2 1286 c.1111C>T c.(1111-1113)CAA>TAA p.Q371* NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 371 Cytoplasmic (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) AAAGCAGATGCAAGTATCCCT 0.453000 XRCC4 7518 broad.mit.edu 37 5 82554470 82554470 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:82554470G>T uc003kib.2 + 7 995 c.867G>T c.(865-867)CAG>CAT p.Q289H XRCC4_uc003kia.1_Missense_Mutation_p.Q289H|XRCC4_uc003kid.2_Missense_Mutation_p.Q289H|XRCC4_uc003kic.2_Missense_Mutation_p.Q289H|XRCC4_uc003kie.2_Missense_Mutation_p.Q289H|XRCC4_uc003kif.1_Missense_Mutation_p.Q289H|XRCC4_uc003kig.2_RNA NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 289 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) TGGCTCCTCAGGAGAATCAGC 0.348000 NHEJ ERAP1 51752 broad.mit.edu 37 5 96116805 96116805 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:96116805C>T uc003kmm.2 - 17 2892 c.2545G>A c.(2545-2547)GCC>ACC p.A849T ERAP1_uc003kml.2_Missense_Mutation_p.A849T|ERAP1_uc010jbm.1_Missense_Mutation_p.A661T|ERAP1_uc003kmn.2_Missense_Mutation_p.A849T NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 849 Lumenal (Potential). 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 ovary(1)|pancreas(1) 2 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) AATTGCCAGGCCAGTGGGTAT 0.333000 RGMB 285704 broad.mit.edu 37 5 98115291 98115291 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:98115291C>T uc003knc.2 + 4 669 c.267C>T c.(265-267)TGC>TGT p.C89C RGMB_uc003knb.2_Silent_p.C89C NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 48 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TAGGTGACTGCCAACAGCCAG 0.443000 SLC22A4 6583 broad.mit.edu 37 5 131671563 131671563 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:131671563C>A uc003kwq.2 + 8 1479 c.1314C>A c.(1312-1314)ACC>ACA p.T438T uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 438 Helical; Name=10; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TTGGGATCACCTCTGCTTTCT 0.488000 IRF1 3659 broad.mit.edu 37 5 131819656 131819656 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:131819656G>T uc003kxa.2 - 10 1199 c.965C>A c.(964-966)CCC>CAC p.P322H C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P322H NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 322 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CGGTGCACAGGGAATGGCCTG 0.587000 NEUROG1 4762 broad.mit.edu 37 5 134871159 134871159 + Silent SNP G G C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:134871159G>C uc003lax.2 - 1 481 c.222C>G c.(220-222)CGC>CGG p.R74R NM_006161 NP_006152 Q92886 NGN1_HUMAN neurogenin 1 74 positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter nucleus chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCGGCCGCGGCGCCGCCGCC 0.582000 REEP2 51308 broad.mit.edu 37 5 137777118 137777118 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:137777118G>A uc003lcz.2 + 3 272 c.150G>A c.(148-150)ACG>ACA p.T50T REEP2_uc003lda.2_Silent_p.T50T|REEP2_uc011cyt.1_Silent_p.T11T NM_016606 NP_057690 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 50 Helical; (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCTTCACCACGGCCGAGACGC 0.622000 PURA 5813 broad.mit.edu 37 5 139494404 139494404 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:139494404A>C uc003lfa.2 + 1 697 c.638A>C c.(637-639)GAG>GCG p.E213A NM_005859 NP_005850 Q00577 PURA_HUMAN purine-rich element binding protein A 213 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGTGGAGGAGGAGCCGGCC 0.632000 EIF4EBP3 8637 broad.mit.edu 37 5 139928824 139928824 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:139928824G>A uc003lfy.1 + 3 352 c.280G>A c.(280-282)GCA>ACA p.A94T ANKHD1-EIF4EBP3_uc003lfs.1_3'UTR|ANKHD1-EIF4EBP3_uc011czh.1_3'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_3'UTR NM_003732 NP_003723 O60516 4EBP3_HUMAN eukaryotic translation initiation factor 4E 94 negative regulation of translational initiation eukaryotic translation initiation factor 4F complex eukaryotic initiation factor 4E binding|translation repressor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGATGACGCACAATTTGA 0.542000 SLC35A4 113829 broad.mit.edu 37 5 139946971 139946971 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:139946971T>C uc003lgg.1 + 3 945 c.217T>C c.(217-219)TGG>CGG p.W73R APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.W73R NM_080670 NP_542401 Q96G79 S35A4_HUMAN solute carrier family 35, member A4 73 Helical; (Potential).|Leu-rich. Golgi membrane|integral to membrane sugar:hydrogen symporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGTAGGCTGGCAAGCATG 0.627000 PCDHA4 56144 broad.mit.edu 37 5 140188299 140188299 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140188299G>A uc003lhi.2 + 1 1628 c.1527G>A c.(1525-1527)TCG>TCA p.S509S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 509 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACGTTTCGGTGCATGCGG 0.677000 PCDHA6 56142 broad.mit.edu 37 5 140209639 140209639 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140209639G>A uc003lho.2 + 1 1990 c.1963G>A c.(1963-1965)GGT>AGT p.G655S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.G655S NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 655 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAGACCACGGTGAGCCGGC 0.687000 PCDHA13 56136 broad.mit.edu 37 5 140263299 140263299 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140263299G>A uc003lif.2 + 1 1446 c.1446G>A c.(1444-1446)GCG>GCA p.A482A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A482A|PCDHA13_uc003lid.2_Silent_p.A482A NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 482 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGACGCGGACGCACAGG 0.667000 PCDHA13 56136 broad.mit.edu 37 5 140263504 140263504 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140263504C>T uc003lif.2 + 1 1651 c.1651C>T c.(1651-1653)CTG>TTG p.L551L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L551L|PCDHA13_uc003lid.2_Silent_p.L551L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 551 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGTGACGCTGCAGGTGTT 0.692000 PCDHA13 56136 broad.mit.edu 37 5 140263536 140263536 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140263536C>T uc003lif.2 + 1 1683 c.1683C>T c.(1681-1683)AAC>AAT p.N561N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.N561N|PCDHA13_uc003lid.2_Silent_p.N561N NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 561 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGACAACGCTCCGGCGC 0.697000 PCDHAC2 56134 broad.mit.edu 37 5 140346519 140346519 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140346519G>A uc003lii.2 + 1 408 c.168G>A c.(166-168)GCG>GCA p.A56A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.A56A NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 56 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCCGGCGCGCTCGTGGGCA 0.572000 PCDHB12 56124 broad.mit.edu 37 5 140590109 140590109 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140590109G>A uc003liz.2 + 1 1819 c.1630G>A c.(1630-1632)GAG>AAG p.E544K PCDHB12_uc011dak.1_Missense_Mutation_p.E207K NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 544 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGAGCAGCGAGGCGCTGGT 0.697000 PCDHB15 56121 broad.mit.edu 37 5 140626242 140626242 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140626242G>A uc003lje.2 + 1 1096 c.1096G>A c.(1096-1098)GCC>ACC p.A366T NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 366 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAGAAGTGGCCCTGTTTAG 0.418000 PCDHGA6 56109 broad.mit.edu 37 5 140754749 140754749 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140754749G>A uc003ljy.1 + 1 1099 c.1099G>A c.(1099-1101)GCC>ACC p.A367T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.A367T NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 367 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACAGTAATCGCCCTTTTTCA 0.433000 PCDHGA11 56105 broad.mit.edu 37 5 140802774 140802774 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140802774G>A uc003lkq.1 + 1 2238 c.1980G>A c.(1978-1980)ACG>ACA p.T660T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.T660T|PCDHGA11_uc003lkp.1_Intron NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 660 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCGTCACGCTCACCGTGG 0.662000 DIAPH1 1729 broad.mit.edu 37 5 140903716 140903716 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140903716G>A uc003llb.3 - 28 3796 c.3655C>T c.(3655-3657)CGT>TGT p.R1219C DIAPH1_uc011dbd.1_Missense_Mutation_p.R113C|DIAPH1_uc003llc.3_Missense_Mutation_p.R1210C NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 1219 DAD. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCTTGACGGGGCCCTCTC 0.537000 GNPDA1 10007 broad.mit.edu 37 5 141385765 141385765 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:141385765C>T uc003lmf.3 - 3 1112 c.353G>A c.(352-354)TGT>TAT p.C118Y GNPDA1_uc003lmg.3_Missense_Mutation_p.C118Y|GNPDA1_uc010jgh.2_Missense_Mutation_p.C118Y|GNPDA1_uc003lmh.3_Missense_Mutation_p.C84Y NM_005471 NP_005462 P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 118 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity 0 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGGCATCACATTCTGCCTG 0.507000 RPS14 6208 broad.mit.edu 37 5 149826448 149826448 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:149826448C>A uc003lsh.2 - 3 501 c.228G>T c.(226-228)TTG>TTT p.L76F uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.L76F|RPS14_uc003lsj.2_Missense_Mutation_p.L76F NM_001025071 NP_001020242 P62263 RS14_HUMAN ribosomal protein S14 76 endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity central_nervous_system(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGGGCAGCCAACATAGCAG 0.567000 NDST1 3340 broad.mit.edu 37 5 149915269 149915269 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:149915269G>A uc003lsk.3 + 6 1761 c.1259G>A c.(1258-1260)GGC>GAC p.G420D NDST1_uc011dcj.1_Missense_Mutation_p.G420D|NDST1_uc003lsl.2_Missense_Mutation_p.G420D NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 420 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGGAGCATGGCATTCCCACA 0.597000 NDST1 3340 broad.mit.edu 37 5 149925026 149925026 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:149925026A>G uc003lsk.3 + 11 2625 c.2123A>G c.(2122-2124)GAC>GGC p.D708G NDST1_uc011dcj.1_Missense_Mutation_p.D708G NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 708 Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACCCCGCGGACCGGGCCTAT 0.567000 TNIP1 10318 broad.mit.edu 37 5 150411891 150411891 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:150411891G>T uc003ltf.2 - 17 2422 c.1833C>A c.(1831-1833)AGC>AGA p.S611R TNIP1_uc011dcn.1_Missense_Mutation_p.S129R|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.S547R|TNIP1_uc010jhn.2_Intron|TNIP1_uc011dco.1_Missense_Mutation_p.A617D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.S611R|TNIP1_uc003ltg.2_Missense_Mutation_p.S558R|TNIP1_uc003ltj.2_Missense_Mutation_p.S611R|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Intron|TNIP1_uc010jhp.1_Missense_Mutation_p.S494R|TNIP1_uc010jhr.1_Missense_Mutation_p.S611R|TNIP1_uc003ltk.2_Missense_Mutation_p.S611R NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 611 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCACTTGGGAGCTCTGATTTG 0.478000 G3BP1 10146 broad.mit.edu 37 5 151170610 151170610 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:151170610T>C uc003lun.2 + 4 509 c.338T>C c.(337-339)GTC>GCC p.V113A G3BP1_uc010jhy.1_Missense_Mutation_p.V113A|G3BP1_uc003lum.2_Missense_Mutation_p.V113A|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 113 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) CAAACGTTTGTCCTTGCTCCT 0.403000 GALNT10 55568 broad.mit.edu 37 5 153765901 153765901 + Missense_Mutation SNP G G A rs139262954 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:153765901G>A uc003lvh.2 + 7 1099 c.967G>A c.(967-969)GCC>ACC p.A323T GALNT10_uc003lvg.1_Missense_Mutation_p.A323T|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.A164T NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 323 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGGACTGTTCGCCGTGGATCG 0.567000 HAVCR2 84868 broad.mit.edu 37 5 156514218 156514218 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:156514218A>G uc003lwk.1 - 7 945 c.801T>C c.(799-801)ATT>ATC p.I267I NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 267 Cytoplasmic (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGTTCTCTTCAATGGTATAGA 0.468000 GABRA6 2559 broad.mit.edu 37 5 161116141 161116141 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:161116141A>G uc003lyu.2 + 4 750 c.412A>G c.(412-414)ATA>GTA p.I138V GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 138 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 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) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTCTTCAGAATAATGCAGAA 0.373000 TCGA Ovarian(5;0.080) ODZ2 57451 broad.mit.edu 37 5 167589717 167589717 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:167589717G>A uc010jjd.2 + 13 2497 c.2497G>A c.(2497-2499)GTT>ATT p.V833I ODZ2_uc003lzr.3_Missense_Mutation_p.V610I|ODZ2_uc003lzt.3_Missense_Mutation_p.V206I|ODZ2_uc010jje.2_Missense_Mutation_p.V104I|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CGGATGCAACGTTGCCATGGA 0.567000 CCDC99 54908 broad.mit.edu 37 5 169020375 169020375 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:169020375G>A uc003mae.3 + 4 633 c.354G>A c.(352-354)GTG>GTA p.V118V CCDC99_uc010jjj.2_Silent_p.V47V|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 118 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AACTGAAAGTGGAATTAGATG 0.348000 CCDC99 54908 broad.mit.edu 37 5 169021259 169021259 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:169021259G>A uc003mae.3 + 5 921 c.642G>A c.(640-642)GAG>GAA p.E214E CCDC99_uc010jjj.2_Silent_p.E143E|CCDC99_uc011deq.1_Silent_p.E31E|CCDC99_uc010jjk.2_Intron NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 214 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAAAGAGGAGCGAGAGAAAG 0.358000 SH3PXD2B 285590 broad.mit.edu 37 5 171777412 171777412 + Missense_Mutation SNP C C A rs111492578 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:171777412C>A uc003mbr.2 - 10 1138 c.967G>T c.(967-969)GGG>TGG p.G323W NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 323 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCAAACCGCCCGTCCCTCTGG 0.612000 DRD1 1812 broad.mit.edu 37 5 174870015 174870015 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:174870015G>T uc003mcz.2 - 2 1033 c.88C>A c.(88-90)CTG>ATG p.L30M NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 30 Helical; Name=1; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AGCAGCGACAGGAAACAGGCA 0.562000 HRH2 3274 broad.mit.edu 37 5 175110255 175110255 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:175110255G>T uc003mdd.2 + 1 1792 c.19G>T c.(19-21)GCC>TCC p.A7S HRH2_uc003mdc.3_Missense_Mutation_p.A7S NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 7 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CAATGGCACAGCCTCTTCCTT 0.567000 RNF44 22838 broad.mit.edu 37 5 175959004 175959004 + Splice_Site SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:175959004C>T uc003mek.1 - 3 822 c.297_splice c.e3+1 p.Q99_splice RNF44_uc011dfo.1_Splice_Site_p.Q7_splice|RNF44_uc003mel.1_5'Flank NM_014901 NP_055716 Q7L0R7 RNF44_HUMAN ring finger protein 44 zinc ion binding 0 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTTCTGCCTACCTGCTCGTGG 0.632000 RGS14 10636 broad.mit.edu 37 5 176797920 176797920 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:176797920C>T uc003mgf.2 + 11 1324 c.1142C>T c.(1141-1143)GCG>GTG p.A381V RGS14_uc003mgh.2_Missense_Mutation_p.A229V|RGS14_uc003mgi.2_Missense_Mutation_p.A152V|RGS14_uc003mgj.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 381 RBD 2.|Necessary for interaction with RABGEF1 (By similarity). chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) GAGCTGACGGCGCTGGAGCGC 0.687000 CANX 821 broad.mit.edu 37 5 179150668 179150668 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:179150668T>C uc003mkk.2 + 12 1583 c.1406T>C c.(1405-1407)GTT>GCT p.V469A CANX_uc011dgp.1_Missense_Mutation_p.V504A|CANX_uc003mkl.2_Missense_Mutation_p.V469A|CANX_uc011dgq.1_Missense_Mutation_p.V361A NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 469 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCCAGGCGTTGTGGGGCAG 0.507000 FAM50B 26240 broad.mit.edu 37 6 3850592 3850592 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:3850592G>A uc003mvu.2 + 2 659 c.547G>A c.(547-549)GAG>AAG p.E183K NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 183 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) AGTGAAGGACGAGGAGATGGA 0.667000 RREB1 6239 broad.mit.edu 37 6 7231972 7231972 + Missense_Mutation SNP G G A rs146641651 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:7231972G>A uc003mxc.2 + 10 4030 c.3640G>A c.(3640-3642)GAC>AAC p.D1214N RREB1_uc003mxb.2_Missense_Mutation_p.D1214N|RREB1_uc010jnx.2_Missense_Mutation_p.D1214N NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1214 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGCCCCTGCCGACCACCATGG 0.592000 DSP 1832 broad.mit.edu 37 6 7576615 7576615 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:7576615C>T uc003mxp.1 + 19 2998 c.2719C>T c.(2719-2721)CGC>TGC p.R907C DSP_uc003mxq.1_Missense_Mutation_p.R907C NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 907 Globular 1.|Spectrin 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGATGCTAAACGCCGCCAGGA 0.423000 HIVEP1 3096 broad.mit.edu 37 6 12125503 12125503 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:12125503T>C uc003nac.2 + 4 5654 c.5475T>C c.(5473-5475)AAT>AAC p.N1825N HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1825 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAATTAGTAATGAGGCTGTTA 0.368000 GFOD1 54438 broad.mit.edu 37 6 13365634 13365634 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:13365634C>T uc003nat.1 - 2 1179 c.514G>A c.(514-516)GGC>AGC p.G172S GFOD1_uc003nas.1_Missense_Mutation_p.G69S NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 172 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GAGTGCAGGCCGCCGCCGCCC 0.642000 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:13711709G>T uc003nbb.2 - 1 88 c.29C>A c.(28-30)CCG>CAG p.P10Q NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.517000 JARID2 3720 broad.mit.edu 37 6 15520332 15520332 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:15520332C>T uc003nbj.2 + 18 3835 c.3591C>T c.(3589-3591)TGC>TGT p.C1197C JARID2_uc011div.1_Silent_p.C1025C NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1197 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 ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) ATCAGATCTGCGGCAAAGTGT 0.498000 C6orf62 81688 broad.mit.edu 37 6 24714607 24714607 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:24714607T>C uc003nel.2 - 3 875 c.368A>G c.(367-369)AAA>AGA p.K123R NM_030939 NP_112201 Q9GZU0 CF062_HUMAN hypothetical protein LOC81688 123 intracellular 0 ACAGACGATTTTTTCAATATC 0.338000 BTN3A3 10384 broad.mit.edu 37 6 26452193 26452193 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:26452193A>G uc003nhz.2 + 11 1489 c.1309A>G c.(1309-1311)ACT>GCT p.T437A BTN3A3_uc003nia.2_Missense_Mutation_p.T395A|BTN3A3_uc011dkn.1_Missense_Mutation_p.T388A NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 437 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane 0 TATGGGCCTGACTGATGGGAA 0.493000 BTN1A1 696 broad.mit.edu 37 6 26501975 26501975 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:26501975C>T uc003nif.3 + 2 257 c.237C>T c.(235-237)GAC>GAT p.D79D NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 79 Extracellular (Potential).|Ig-like V-type 1. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TGCATAGGGACGGGCGCGAGC 0.692000 NKAPL 222698 broad.mit.edu 37 6 28227433 28227433 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:28227433G>A uc003nkt.2 + 1 336 c.284G>A c.(283-285)CGC>CAC p.R95H ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 95 upper_aerodigestive_tract(1)|ovary(1) 2 AGTGGATATCGCTACCATCGT 0.567000 OR5V1 81696 broad.mit.edu 37 6 29323689 29323689 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:29323689A>G uc011dlo.1 - 1 366 c.284T>C c.(283-285)GTG>GCG p.V95A NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 CACACACCCCACATAAGAAAT 0.428000 HLA-A 3105 broad.mit.edu 37 6 29910672 29910672 + Missense_Mutation SNP C C A rs41563719 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:29910672C>A uc003nol.2 + 2 212 c.212C>A c.(211-213)CCG>CAG p.P71Q HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.P71Q|HLA-A_uc003noo.2_Missense_Mutation_p.P71Q|HLA-A_uc010jrr.2_Missense_Mutation_p.P71Q|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.P43Q|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 71 Extracellular (Potential).|Alpha-1. 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 plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 AGGATGGAGCCGCGGGCGCCG 0.692000 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) PPP1R11 6992 broad.mit.edu 37 6 30036905 30036905 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:30036905G>A uc003npb.2 + 3 459 c.203G>A c.(202-204)CGG>CAG p.R68Q PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA NM_021959 NP_068778 O60927 PP1RB_HUMAN protein phosphatase 1, regulatory (inhibitor) 68 soluble fraction protein binding|protein phosphatase inhibitor activity ovary(1)|lung(1)|skin(1) 3 GAGAAACCTCGGGCCTTTGGC 0.512000 HLA-B 3106 broad.mit.edu 37 6 31323371 31323371 + Splice_Site SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:31323371T>G uc003nth.2 - 4 674 c.620_splice c.e4-1 p.D207_splice HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Splice_Site|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.D86_splice|HLA-B_uc003nti.1_Splice_Site|HLA-B_uc010jsn.1_Intron|HLA-B_uc010jso.2_3'UTR NM_005514 NP_005505 P01889 1B07_HUMAN major histocompatibility complex, class I, B 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 plasma membrane|MHC class I protein complex MHC class I receptor activity 0 TTGGGGGGTCTGATGGGAAGA 0.577000 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of BAT2 7916 broad.mit.edu 37 6 31597533 31597533 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:31597533G>A uc003nvb.3 + 14 2414 c.2165G>A c.(2164-2166)CGA>CAA p.R722Q BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R722Q NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 722 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 TTTGATCCCCGATGGATGATG 0.647000 MSH5 4439 broad.mit.edu 37 6 31713067 31713067 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:31713067G>A uc003nwv.1 + 9 816 c.737G>A c.(736-738)AGT>AAT p.S246N MSH5_uc003nwt.1_Missense_Mutation_p.S263N|MSH5_uc003nwu.1_Missense_Mutation_p.S246N|MSH5_uc003nww.1_Missense_Mutation_p.S246N|MSH5_uc003nwx.1_Missense_Mutation_p.S263N|MSH5_uc011dof.1_Intron NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 246 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 AAAGTGGCCAGTGGACTGAAG 0.478000 Direct_reversal_of_damage|MMR VARS 7407 broad.mit.edu 37 6 31747238 31747238 + Missense_Mutation SNP G G A rs138566905 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:31747238G>A uc003nxe.2 - 28 3787 c.3364C>T c.(3364-3366)CGG>TGG p.R1122W C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.R59W NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 1122 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) TAGTCGGCCCGCAGGGAGCGC 0.682000 VARS 7407 broad.mit.edu 37 6 31752430 31752430 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:31752430C>T uc003nxe.2 - 11 1832 c.1409G>A c.(1408-1410)CGC>CAC p.R470H VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 470 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GCGGGTACTGCGATAGATGAT 0.577000 TNXB 7148 broad.mit.edu 37 6 32035685 32035685 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:32035685C>A uc003nzl.2 - 18 6499 c.6297G>T c.(6295-6297)GGG>GGT p.G2099G NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2171 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTGTTAGCTCCCCCAGGAGCG 0.647000 COL11A2 1302 broad.mit.edu 37 6 33137233 33137233 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:33137233G>A uc003ocx.1 - 51 3953 c.3725C>T c.(3724-3726)TCG>TTG p.S1242L COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.S1156L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1135L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1242 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 ovary(3)|skin(2) 5 TGGCTGCCCCGACTCTCCTTT 0.627000 BAK1 578 broad.mit.edu 37 6 33543205 33543205 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:33543205C>T uc003oes.2 - 4 520 c.220G>A c.(220-222)GTG>ATG p.V74M BAK1_uc003oer.2_Missense_Mutation_p.V4M|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V74M|BAK1_uc003oeu.2_Missense_Mutation_p.V15M|BAK1_uc011drj.1_Missense_Mutation_p.V74M NM_001188 NP_001179 Q16611 BAK_HUMAN BCL2-antagonist/killer 1 74 BH3. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity ovary(1) 1 TGCCGTCCCACCTGCCCCATG 0.627000 PACSIN1 29993 broad.mit.edu 37 6 34497328 34497328 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:34497328A>G uc003ojo.2 + 5 817 c.611A>G c.(610-612)AAG>AGG p.K204R PACSIN1_uc003ojp.2_Missense_Mutation_p.K204R NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 204 Potential. endocytosis protein kinase activity 0 GATGTGCAGAAGGTGCTGGCG 0.607000 PPARD 5467 broad.mit.edu 37 6 35389648 35389648 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:35389648C>T uc003okm.2 + 5 646 c.337C>T c.(337-339)CGC>TGC p.R113C PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 113 Nuclear receptor.|NR C4-type. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GAAGTGTGAGCGCAGCTGCAA 0.567000 TULP1 7287 broad.mit.edu 37 6 35473838 35473838 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:35473838T>C uc003okv.3 - 10 953 c.941A>G c.(940-942)AAG>AGG p.K314R TULP1_uc003okw.3_Missense_Mutation_p.K261R NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 314 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 ATCCATGCCCTTTTTGTCCCG 0.672000 PPIL1 51645 broad.mit.edu 37 6 36842542 36842542 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:36842542C>T uc003omu.2 - 1 259 c.7G>A c.(7-9)GCA>ACA p.A3T C6orf89_uc003omv.2_Intron NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase-like 1 3 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity p.A3V(1) ovary(1) 1 GGGGGAATTGCCGCCATAGCG 0.637000 DNAH8 1769 broad.mit.edu 37 6 38747811 38747811 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:38747811C>T uc003ooe.1 + 13 2058 c.1458C>T c.(1456-1458)TAC>TAT p.Y486Y NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCTTCAGTACTATGTGGCTG 0.328000 LRFN2 57497 broad.mit.edu 37 6 40399747 40399747 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:40399747G>A uc003oph.1 - 2 1571 c.1106C>T c.(1105-1107)ACG>ATG p.T369M NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 369 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CACCATGGCCGTGGCCTCTCC 0.607000 USP49 25862 broad.mit.edu 37 6 41773935 41773935 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:41773935A>C uc003ori.2 - 4 1009 c.787T>G c.(787-789)TAC>GAC p.Y263D NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 263 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGTTCATGTAGCAGGTGTTG 0.607000 XPO5 57510 broad.mit.edu 37 6 43515414 43515414 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:43515414C>T uc003ovp.2 - 19 2302 c.2091G>A c.(2089-2091)GCG>GCA p.A697A NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 697 A -> V (in Ref. 3; BAA86605). gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TACCCACATACGCAATGAAAG 0.478000 TDRD6 221400 broad.mit.edu 37 6 46659451 46659451 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:46659451A>C uc003oyj.2 + 1 3586 c.3586A>C c.(3586-3588)AGT>CGT p.S1196R TDRD6_uc010jze.2_Missense_Mutation_p.S1190R NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1196 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AGAGTATTTAAGTAAATCAGT 0.308000 PLA2G7 7941 broad.mit.edu 37 6 46679257 46679257 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:46679257C>T uc010jzf.2 - 7 908 c.639G>A c.(637-639)GAG>GAA p.E213E PLA2G7_uc010jzg.1_Silent_p.E213E|PLA2G7_uc011dwd.1_Silent_p.E168E|PLA2G7_uc011dwe.1_Silent_p.E86E NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 213 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) TATGTGTCTCCTCCTCTTGTT 0.408000 GPR111 222611 broad.mit.edu 37 6 47649996 47649996 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:47649996C>A uc010jzj.1 + 6 1702 c.1701C>A c.(1699-1701)GGC>GGA p.G567G GPR111_uc010jzk.1_Silent_p.G499G|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 567 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TTTCAGTGGGCTATGGATGCC 0.507000 MCM3 4172 broad.mit.edu 37 6 52144285 52144285 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:52144285C>T uc003pan.1 - 5 754 c.644G>A c.(643-645)CGC>CAC p.R215H MCM3_uc011dwu.1_Missense_Mutation_p.R169H NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 215 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) GTCCACAGAGCGGGGGAGCTG 0.562000 OOEP 441161 broad.mit.edu 37 6 74078937 74078937 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:74078937C>T uc003pgu.3 - 2 362 c.362G>A c.(361-363)CGT>CAT p.R121H OOEP_uc003pgv.3_Missense_Mutation_p.R66H NM_001080507 NP_001073976 A6NGQ2 OOEP_HUMAN oocyte expressed protein homolog 121 cytoplasm 0 ACCTCGGGCACGATGTTCTCG 0.557000 IBTK 25998 broad.mit.edu 37 6 82950101 82950101 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:82950101C>T uc003pjl.1 - 2 630 c.103G>A c.(103-105)GCC>ACC p.A35T IBTK_uc011dyv.1_Missense_Mutation_p.A35T|IBTK_uc011dyw.1_Missense_Mutation_p.A35T|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.A35T NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 35 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) GAGAGAAAGGCCTTAATCTGG 0.468000 ASCC3 10973 broad.mit.edu 37 6 101053556 101053556 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:101053556G>A uc003pqk.2 - 33 5394 c.5065C>T c.(5065-5067)CGT>TGT p.R1689C NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1689 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 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) CTCCCAGCACGCCCCATCATC 0.383000 GRIK2 2898 broad.mit.edu 37 6 102266333 102266333 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:102266333G>A uc003pqp.3 + 9 1541 c.1292G>A c.(1291-1293)CGT>CAT p.R431H GRIK2_uc003pqn.2_Missense_Mutation_p.R431H|GRIK2_uc003pqo.3_Missense_Mutation_p.R431H|GRIK2_uc010kcw.2_Missense_Mutation_p.R431H NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 431 Extracellular (Potential). 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 ovary(2)|pancreas(1)|breast(1)|skin(1) 5 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) TTATCCAATCGTTCTTTGATT 0.368000 BEND3 57673 broad.mit.edu 37 6 107390838 107390838 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:107390838G>A uc003prs.2 - 5 2207 c.1557C>T c.(1555-1557)GGC>GGT p.G519G NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 519 ovary(3) 3 CCGGCCGCTCGCCCTCGAAGC 0.642000 GPR6 2830 broad.mit.edu 37 6 110300547 110300547 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:110300547C>T uc011eaw.1 + 2 412 c.232C>T c.(232-234)CTC>TTC p.L78F GPR6_uc011eav.1_Missense_Mutation_p.L93F|GPR6_uc003ptu.2_Missense_Mutation_p.L78F NM_005284 NP_005275 P46095 GPR6_HUMAN G protein-coupled receptor 6 78 Helical; Name=1; (Potential). integral to plasma membrane 0 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GTGGGACGTGCTCCTGTGCGT 0.677000 KPNA5 3841 broad.mit.edu 37 6 117010486 117010486 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:117010486C>A uc003pxh.2 + 2 139 c.8C>A c.(7-9)GCC>GAC p.A3D NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 Error:Variant_position_missing_in_O15131_after_alignment NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) CTTTAAGATGCCATGGCTAGT 0.368000 GPRC6A 222545 broad.mit.edu 37 6 117130556 117130556 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:117130556A>C uc003pxj.1 - 2 441 c.419T>G c.(418-420)GTT>GGT p.V140G GPRC6A_uc003pxk.1_Missense_Mutation_p.V140G|GPRC6A_uc003pxl.1_Missense_Mutation_p.V140G NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 140 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 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) GACAGCCTTAACTCTTGGCAT 0.448000 RFX6 222546 broad.mit.edu 37 6 117248667 117248667 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:117248667G>A uc003pxm.2 + 17 2426 c.2363G>A c.(2362-2364)TGC>TAC p.C788Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 788 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 ovary(1)|pancreas(1)|skin(1) 3 GCTGCCAGCTGCCAAGGAGCA 0.418000 CLVS2 134829 broad.mit.edu 37 6 123319047 123319047 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:123319047C>A uc003pzi.1 + 2 994 c.125C>A c.(124-126)CCG>CAG p.P42Q NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 42 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ATCACCAGGCCGGACATTGGC 0.567000 NKAIN2 154215 broad.mit.edu 37 6 124676486 124676486 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:124676486T>C uc003pzo.2 + 3 543 c.266T>C c.(265-267)CTC>CCC p.L89P NKAIN2_uc003pzn.1_Missense_Mutation_p.L89P|NKAIN2_uc003pzp.2_Missense_Mutation_p.L88P|NKAIN2_uc010keq.2_Missense_Mutation_p.L89P|NKAIN2_uc010ker.2_5'UTR NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 89 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) GCTGGGGACCTCTCAAAGGTA 0.438000 C6orf174 387104 broad.mit.edu 37 6 127796581 127796581 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:127796581G>T uc003qbd.2 - 6 3455 c.2590C>A c.(2590-2592)CGC>AGC p.R864S C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 864 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TCCCGGATGCGGCTGCCGTCG 0.642000 TMEM200A 114801 broad.mit.edu 37 6 130761596 130761596 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:130761596G>T uc003qca.2 + 3 900 c.29G>T c.(28-30)GGC>GTC p.G10V TMEM200A_uc010kfh.2_Missense_Mutation_p.G10V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G10V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G10V NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 10 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTGATAACTGGCCTGGCCGCC 0.488000 TMEM200A 114801 broad.mit.edu 37 6 130762913 130762913 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:130762913C>G uc003qca.2 + 3 2217 c.1346C>G c.(1345-1347)GCC>GGC p.A449G TMEM200A_uc010kfh.2_Missense_Mutation_p.A449G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A449G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A449G NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 449 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCCCAAGTTGCCATCAAAAAG 0.393000 ENPP1 5167 broad.mit.edu 37 6 132176075 132176075 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:132176075G>A uc011ecf.1 + 6 647 c.627G>A c.(625-627)ACG>ACA p.T209T NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 209 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GGTTTGAAACGCCTCCTACCC 0.393000 MAP7 9053 broad.mit.edu 37 6 136698972 136698972 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:136698972G>A uc003qgz.2 - 7 918 c.672C>T c.(670-672)AGC>AGT p.S224S MAP7_uc011edf.1_Silent_p.S209S|MAP7_uc011edg.1_Silent_p.S246S|MAP7_uc010kgu.2_Silent_p.S246S|MAP7_uc011edh.1_Silent_p.S209S|MAP7_uc010kgv.2_Silent_p.S246S|MAP7_uc010kgs.2_Silent_p.S78S|MAP7_uc011edi.1_Silent_p.S78S|MAP7_uc010kgq.1_Silent_p.S130S|MAP7_uc003qha.1_Silent_p.S187S|MAP7_uc010kgr.2_Silent_p.S78S|MAP7_uc010kgt.2_Silent_p.S246S NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 224 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGTTAACAACGCTGCTCTCCC 0.502000 MAP7 9053 broad.mit.edu 37 6 136742893 136742893 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:136742893G>A uc003qgz.2 - 2 358 c.112C>T c.(112-114)CGC>TGC p.R38C MAP7_uc011edf.1_Missense_Mutation_p.R23C|MAP7_uc011edg.1_Missense_Mutation_p.R60C|MAP7_uc010kgu.2_Missense_Mutation_p.R60C|MAP7_uc011edh.1_Missense_Mutation_p.R60C|MAP7_uc010kgv.2_Missense_Mutation_p.R60C|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Missense_Mutation_p.R38C|MAP7_uc003qha.1_Missense_Mutation_p.R38C|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R60C NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 38 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GAGGCAGGGCGGCTGGAGGCA 0.378000 TNFAIP3 7128 broad.mit.edu 37 6 138202374 138202374 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:138202374C>T uc003qhr.2 + 9 2357 c.2291C>T c.(2290-2292)GCC>GTC p.A764V TNFAIP3_uc003qhs.2_Missense_Mutation_p.A764V NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 764 Interaction with NAF1 (By similarity).|A20-type 7. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.A764fs*28(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CGTTGCCGGGCCCCCGCCTGT 0.607000 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma GRM1 2911 broad.mit.edu 37 6 146351044 146351044 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:146351044C>A uc010khw.1 + 2 861 c.391C>A c.(391-393)CGA>AGA p.R131R GRM1_uc010khu.1_Silent_p.R131R|GRM1_uc010khv.1_Silent_p.R131R|GRM1_uc003qll.2_Silent_p.R131R|GRM1_uc011edz.1_Silent_p.R131R|GRM1_uc011eea.1_Silent_p.R131R NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 131 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GATTTCCATTCGAGATGAGAA 0.582000 PLEKHG1 57480 broad.mit.edu 37 6 151054849 151054849 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:151054849G>A uc003qny.1 + 3 344 c.32G>A c.(31-33)AGC>AAC p.S11N PLEKHG1_uc011eel.1_Missense_Mutation_p.S51N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S70N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S11N NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 11 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CGACCCGTCAGCTTCGGTTCC 0.527000 C6orf211 79624 broad.mit.edu 37 6 151789994 151789994 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:151789994G>A uc003qok.1 + 5 1334 c.1075G>A c.(1075-1077)GCA>ACA p.A359T C6orf211_uc011ees.1_Missense_Mutation_p.A240T NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 359 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) ACTACAGAAGGCACATTTAAT 0.403000 SYNE1 23345 broad.mit.edu 37 6 152734552 152734552 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:152734552T>G uc010kiw.2 - 42 6767 c.6165A>C c.(6163-6165)GAA>GAC p.E2055D SYNE1_uc003qot.3_Missense_Mutation_p.E2062D|SYNE1_uc003qou.3_Missense_Mutation_p.E2055D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2038D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2055 Cytoplasmic (Potential). 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 central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCTGTCAACTTCAGGTGCAA 0.403000 HNSCC(10;0.0054) TULP4 56995 broad.mit.edu 37 6 158900838 158900838 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:158900838C>T uc003qrf.2 + 7 2439 c.1082C>T c.(1081-1083)TCA>TTA p.S361L TULP4_uc011efo.1_Missense_Mutation_p.S361L|TULP4_uc003qrg.2_Missense_Mutation_p.S361L NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 361 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) TTGATGGCATCAGGACCAGCC 0.602000 AGPAT4 56895 broad.mit.edu 37 6 161560486 161560486 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:161560486G>A uc003qtr.1 - 8 1237 c.1010C>T c.(1009-1011)ACG>ATG p.T337M AGPAT4_uc003qts.1_Missense_Mutation_p.T197M|AGPAT4_uc011egb.1_Missense_Mutation_p.T175M NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 337 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) GCTGGCCAGCGTCAGGGAAGA 0.622000 C6orf118 168090 broad.mit.edu 37 6 165715715 165715715 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:165715715C>T uc003qum.3 - 2 132 c.96G>A c.(94-96)ACG>ACA p.T32T C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 32 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCACTCCTGGCGTCTCGCAGT 0.522000 GPR31 2853 broad.mit.edu 37 6 167570859 167570859 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:167570859T>C uc011egq.1 - 1 461 c.461A>G c.(460-462)GAG>GGG p.E154G NM_005299 NP_005290 O00270 GPR31_HUMAN G protein-coupled receptor 31 154 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) CTGGGCGGCCTCAGAGATGAG 0.622000 MLLT4 4301 broad.mit.edu 37 6 168289993 168289993 + Nonsense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:168289993G>A uc003qwd.2 + 7 1135 c.993G>A c.(991-993)TGG>TGA p.W331* MLLT4_uc003qwb.1_Nonsense_Mutation_p.W331*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.W332*|MLLT4_uc003qwf.2_Nonsense_Mutation_p.W32* NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 332 Ras-associating 2. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 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) TCAGGGAATGGCCAAGTGACA 0.398000 T MLL AL SUN1 23353 broad.mit.edu 37 7 883121 883121 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:883121G>A uc011jvp.1 + 6 701 c.622G>A c.(622-624)GTG>ATG p.V208M SUN1_uc010ksa.1_Missense_Mutation_p.V229M|SUN1_uc003sje.1_Missense_Mutation_p.V208M|SUN1_uc003sjf.2_Missense_Mutation_p.V158M|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.V19M NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 208 Nuclear. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 CCCCGGGCCCGTGTCGAGAGT 0.542000 C7orf50 84310 broad.mit.edu 37 7 1037358 1037358 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:1037358G>A uc003sju.2 - 5 558 c.488C>T c.(487-489)GCG>GTG p.A163V C7orf50_uc003sjs.2_RNA|C7orf50_uc011jvt.1_Missense_Mutation_p.A163V|C7orf50_uc011jvu.1_Missense_Mutation_p.A163V NM_032350 NP_115726 Q9BRJ6 CG050_HUMAN hypothetical protein LOC84310 163 protein binding 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) CAGGGCTTCCGCCTTCTGCAC 0.677000 INTS1 26173 broad.mit.edu 37 7 1511207 1511207 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:1511207C>T uc003skn.2 - 45 6356 c.6255G>A c.(6253-6255)TCG>TCA p.S2085S INTS1_uc003skm.1_Silent_p.S222S NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 2085 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCCAGCTCACCGAGAAGAAGC 0.632000 CARD11 84433 broad.mit.edu 37 7 2984023 2984023 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:2984023C>T uc003smv.2 - 5 911 c.507G>A c.(505-507)ACG>ACA p.T169T NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 169 Potential. 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 haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GCTCCACGCGCGTCAGCGTCA 0.572000 Mis DLBCL MIOS 54468 broad.mit.edu 37 7 7612723 7612723 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:7612723G>A uc003srf.2 + 4 925 c.617G>A c.(616-618)CGT>CAT p.R206H MIOS_uc010ktp.1_Missense_Mutation_p.R206H NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 206 WD 3. 0 GGTATGCATCGTAACCTAGCT 0.413000 RPA3 6119 broad.mit.edu 37 7 7680018 7680018 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:7680018C>T uc003sri.2 - 5 1204 c.32G>A c.(31-33)CGC>CAC p.R11H RPA3_uc003srh.2_5'Flank NM_002947 NP_002938 P35244 RFA3_HUMAN replication protein A3, 14kDa 11 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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 cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding large_intestine(1) 1 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) GGCGTTGATGCGCGACCTGGG 0.592000 Direct_reversal_of_damage|NER TMEM106B 54664 broad.mit.edu 37 7 12263918 12263918 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:12263918T>C uc011jxk.1 + 5 748 c.348T>C c.(346-348)CTT>CTC p.L116L TMEM106B_uc003ssh.2_Silent_p.L116L NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 116 Helical; (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) TGTTTTTCCTTTTCCCTCGCT 0.378000 DNAH11 8701 broad.mit.edu 37 7 21640745 21640745 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:21640745A>G uc003svc.2 + 17 3404 c.3373A>G c.(3373-3375)AAG>GAG p.K1125E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1125 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AACCATAATTAAGAAATGGAG 0.348000 Kartagener_syndrome SKAP2 8935 broad.mit.edu 37 7 26729927 26729927 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:26729927T>C uc003syc.2 - 10 1144 c.851A>G c.(850-852)CAG>CGG p.Q284R SKAP2_uc011jzi.1_Missense_Mutation_p.Q112R|SKAP2_uc011jzj.1_Missense_Mutation_p.Q269R NM_003930 NP_003921 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 284 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity pancreas(1) 1 GACACTATCCTGACTCATCTT 0.393000 HOXA1 3198 broad.mit.edu 37 7 27134370 27134370 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:27134370G>A uc003sye.2 - 2 791 c.697C>T c.(697-699)CGC>TGC p.R233C HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 233 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 AAGTTGGTGCGCACCGCGTTG 0.537000 ELMO1 9844 broad.mit.edu 37 7 37136224 37136224 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:37136224G>A uc003tfk.1 - 15 1607 c.1300C>T c.(1300-1302)CCT>TCT p.P434S ELMO1_uc011kbc.1_Missense_Mutation_p.P338S|ELMO1_uc010kxg.1_Missense_Mutation_p.P434S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 434 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTATACTTACGCAACTCGCCC 0.498000 ADCY1 107 broad.mit.edu 37 7 45699707 45699707 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:45699707C>T uc003tne.3 + 7 1392 c.1374C>T c.(1372-1374)TAC>TAT p.Y458Y ADCY1_uc003tnd.2_Silent_p.Y233Y NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 458 Cytoplasmic (Potential). 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AACCGGGTTACGGACATGAGA 0.493000 ADCY1 107 broad.mit.edu 37 7 45725766 45725766 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:45725766C>T uc003tne.3 + 13 2297 c.2279C>T c.(2278-2280)ACC>ATC p.T760I NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 760 Helical; (Potential). 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCCGGGCTCACCACGTCCTAC 0.567000 ABCA13 154664 broad.mit.edu 37 7 48285466 48285466 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:48285466G>A uc003toq.2 + 13 1523 c.1498G>A c.(1498-1500)GCG>ACG p.A500T ABCA13_uc010kyr.2_Missense_Mutation_p.A3T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 500 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTAGATGTTGGCGAAGAATGC 0.448000 ZNF713 349075 broad.mit.edu 37 7 56007318 56007318 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:56007318T>C uc003trc.1 + 4 950 c.912T>C c.(910-912)AAT>AAC p.N304N ZNF713_uc003tra.1_Silent_p.N317N|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 304 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTATATGCAATGGATGTGGGA 0.393000 ASL 435 broad.mit.edu 37 7 65547883 65547883 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:65547883C>T uc003tuo.2 + 5 419 c.308C>T c.(307-309)ACG>ATG p.T103M ASL_uc011kdu.1_Missense_Mutation_p.T103M|ASL_uc010kzx.1_Missense_Mutation_p.T103M|ASL_uc011kdv.1_Missense_Mutation_p.T103M|ASL_uc003tup.2_Missense_Mutation_p.T103M|ASL_uc003tur.2_Missense_Mutation_p.T103M|ASL_uc003tuq.2_Missense_Mutation_p.T103M NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 103 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) ATTGGTGCAACGGCAGGGAAG 0.632000 TBL2 26608 broad.mit.edu 37 7 72984992 72984992 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:72984992G>A uc003tyh.2 - 7 1323 c.1189C>T c.(1189-1191)CGG>TGG p.R397W TBL2_uc011kex.1_Missense_Mutation_p.R361W|TBL2_uc010lbg.2_Missense_Mutation_p.R302W|TBL2_uc003tyi.2_Missense_Mutation_p.R232W|TBL2_uc011key.1_Missense_Mutation_p.R268W|TBL2_uc010lbh.2_Missense_Mutation_p.R302W NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 397 WD 7. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) TGAAACAGCCGCACCGCCCGG 0.632000 LIMK1 3984 broad.mit.edu 37 7 73513447 73513447 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:73513447G>A uc003uaa.1 + 5 652 c.487G>A c.(487-489)GTC>ATC p.V163I RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.V129I|LIMK1_uc003uac.1_5'UTR NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 163 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) GCCCCACACCGTCACCCTGGT 0.657000 POMZP3 22932 broad.mit.edu 37 7 76255377 76255377 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:76255377A>G uc003uft.2 - 2 752 c.5T>C c.(4-6)GTG>GCG p.V2A uc003ufs.1_RNA|POMZP3_uc003ufu.2_Missense_Mutation_p.V2A|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA NM_012230 NP_036362 Q6PJE2 POZP3_HUMAN POMZP3 fusion protein isoform 1 2 0 Myeloproliferative disorder(862;0.204) TGGGCTACACACCATCCTGGA 0.522000 CD36 948 broad.mit.edu 37 7 80285858 80285858 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:80285858A>C uc003uhc.2 + 7 807 c.123A>C c.(121-123)CAA>CAC p.Q41H CD36_uc003uhd.3_Missense_Mutation_p.Q41H|CD36_uc011kgv.1_5'UTR|CD36_uc003uhe.3_Missense_Mutation_p.Q41H|CD36_uc003uhf.3_Missense_Mutation_p.Q41H|CD36_uc003uhg.3_Missense_Mutation_p.Q41H|CD36_uc003uhh.3_Missense_Mutation_p.Q41H NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 41 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 TTTCATAGCAAGTTGTCCTCG 0.378000 ABCB4 5244 broad.mit.edu 37 7 87073079 87073079 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:87073079A>T uc003uiv.1 - 11 1206 c.1130T>A c.(1129-1131)ATT>AAT p.I377N ABCB4_uc003uiw.1_Missense_Mutation_p.I377N|ABCB4_uc003uix.1_Missense_Mutation_p.I377N NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 377 Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AAAACTGTCAATTTTAGGATT 0.343000 PTCD1 26024 broad.mit.edu 37 7 99022445 99022445 + Silent SNP G G A rs142516229 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:99022445G>A uc003uqh.2 - 6 1841 c.1710C>T c.(1708-1710)GAC>GAT p.D570D PTCD1_uc011kiw.1_Silent_p.D619D NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 570 PPR 8. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCTGTAGACCGTCCTTCGGCC 0.617000 PILRB 29990 broad.mit.edu 37 7 99955941 99955941 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:99955941C>T uc003uuk.2 + 15 2512 c.16C>T c.(16-18)CTG>TTG p.L6L PILRB_uc003uul.2_Silent_p.L6L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L6L NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 6 activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCGGCCCCTGCTGCTGCCCCT 0.672000 MEPCE 56257 broad.mit.edu 37 7 100028470 100028470 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:100028470G>A uc003uuw.2 + 1 942 c.829G>A c.(829-831)GGA>AGA p.G277R ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 277 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGCAGCCGGAGGGAGTGA 0.662000 C7orf51 222950 broad.mit.edu 37 7 100085812 100085812 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:100085812C>T uc003uvd.1 + 4 627 c.468C>T c.(466-468)AGC>AGT p.S156S C7orf51_uc003uve.1_5'UTR NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 156 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGAGTCCAGCCGGAAGGTTC 0.597000 MUC17 140453 broad.mit.edu 37 7 100678887 100678887 + Missense_Mutation SNP C C T rs141608296 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:100678887C>T uc003uxp.1 + 3 4243 c.4190C>T c.(4189-4191)CCG>CTG p.P1397L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1397 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GGAACCACTCCGTTAACAAGT 0.507000 TRIM56 81844 broad.mit.edu 37 7 100732016 100732016 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:100732016A>C uc003uxq.2 + 3 1654 c.1423A>C c.(1423-1425)AGC>CGC p.S475R TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 475 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) CCGGGAGCCCAGCCCAGCCCT 0.622000 VGF 7425 broad.mit.edu 37 7 100807605 100807605 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:100807605C>T uc003uxx.3 - 2 738 c.520G>A c.(520-522)GCC>ACC p.A174T NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 174 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) TGGCGCTTGGCGCTACTTGGA 0.662000 ALKBH4 54784 broad.mit.edu 37 7 102098052 102098052 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:102098052G>A uc003uzl.2 - 3 703 c.698C>T c.(697-699)GCC>GTC p.A233V ALKBH4_uc003uzm.2_Missense_Mutation_p.A160V NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 233 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TAAGGGGATGGCCACCTCCAC 0.706000 DNAJC2 27000 broad.mit.edu 37 7 102982389 102982389 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:102982389C>T uc003vbo.2 - 2 328 c.77G>A c.(76-78)TGT>TAT p.C26Y DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.C26Y|DNAJC2_uc003vbp.2_Intron|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.C26Y NM_014377 NP_055192 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 26 Epitope (recognized by CD8(+) cytotoxic T-lymphocytes). 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding kidney(1) 1 TTCAACTTGACAGAGTGTAGA 0.373000 PSMC2 5701 broad.mit.edu 37 7 103004675 103004675 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:103004675C>T uc003vbs.2 + 8 747 c.677C>T c.(676-678)GCG>GTG p.A226V SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A89V NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 226 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 ACACTCTGTGCGCGGGCAGTT 0.498000 RELN 5649 broad.mit.edu 37 7 103293021 103293021 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:103293021A>G uc003vca.2 - 14 1900 c.1740T>C c.(1738-1740)TGT>TGC p.C580C RELN_uc010liz.2_Silent_p.C580C NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 580 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 ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GATGCGTTCCACATCCCAGAT 0.403000 PUS7 54517 broad.mit.edu 37 7 105148756 105148756 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:105148756C>T uc003vcx.2 - 2 423 c.204G>A c.(202-204)GGG>GGA p.G68G PUS7_uc010lji.2_Silent_p.G68G|PUS7_uc003vcy.2_Silent_p.G68G|PUS7_uc003vcz.1_Silent_p.G68G NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 68 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 TTCCACCTTTCCCAGTACTGA 0.493000 LAMB1 3912 broad.mit.edu 37 7 107580727 107580727 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:107580727A>G uc003vew.2 - 25 3803 c.3468T>C c.(3466-3468)GGT>GGC p.G1156G LAMB1_uc003vev.2_Silent_p.G1180G NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1156 Laminin EGF-like 13. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACCCTCAACACCCTCAACGC 0.587000 LAMB4 22798 broad.mit.edu 37 7 107738955 107738955 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:107738955G>A uc010ljo.1 - 11 1337 c.1253C>T c.(1252-1254)TCT>TTT p.S418F LAMB4_uc003vey.2_Missense_Mutation_p.S418F NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 418 Laminin EGF-like 3. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GCCGGCCACAGACCCTAAGGC 0.552000 TMEM168 64418 broad.mit.edu 37 7 112423832 112423832 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:112423832C>T uc003vgn.2 - 2 1441 c.1049G>A c.(1048-1050)CGC>CAC p.R350H TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 350 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 GCAAAAATGGCGCATCCCTTT 0.408000 C7orf60 154743 broad.mit.edu 37 7 112555379 112555379 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:112555379C>T uc003vgo.1 - 2 411 c.284G>A c.(283-285)CGT>CAT p.R95H C7orf60_uc011kms.1_Missense_Mutation_p.R121H NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 95 ovary(2)|skin(1) 3 CCATTCAATACGACCTTCGCC 0.308000 PPP1R3A 5506 broad.mit.edu 37 7 113558541 113558541 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:113558541C>G uc010ljy.1 - 1 542 c.511G>C c.(511-513)GAC>CAC p.D171H NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 171 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GCTAAAATGTCATAATGTGTC 0.343000 ANKRD7 56311 broad.mit.edu 37 7 117874902 117874902 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:117874902G>A uc003vji.2 + 3 615 c.442G>A c.(442-444)GAA>AAA p.E148K NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 148 ANK 3. male gonad development 0 GCTTGAATACGAAGCTGATCT 0.333000 PTPRZ1 5803 broad.mit.edu 37 7 121679626 121679626 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:121679626A>C uc003vjy.2 + 20 6016 c.5621A>C c.(5620-5622)AAC>ACC p.N1874T PTPRZ1_uc003vjz.2_Missense_Mutation_p.N1007T|PTPRZ1_uc011knt.1_Missense_Mutation_p.N464T NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1874 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACTCTAAGAAACACAAAAATA 0.393000 SMO 6608 broad.mit.edu 37 7 128850231 128850231 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:128850231G>A uc003vor.2 + 9 1774 c.1494G>A c.(1492-1494)CTG>CTA p.L498L SMO_uc003vos.2_Silent_p.L173L NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 498 Extracellular (Potential). 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 skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CCATCGGGCTGCCCACCAAGC 0.438000 Mis skin basal cell OREG0018305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PLXNA4 91584 broad.mit.edu 37 7 131982977 131982977 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:131982977C>T uc003vra.3 - 4 1605 c.1376G>A c.(1375-1377)CGG>CAG p.R459Q NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 459 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TCCATCCACCCGGATCTGTGG 0.602000 ZC3HAV1L 92092 broad.mit.edu 37 7 138713581 138713581 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:138713581C>T uc003vum.1 - 3 639 c.627G>A c.(625-627)CGG>CGA p.R209R NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 209 0 GCTGATGGGACCGTTTGCAGG 0.428000 TBXAS1 6916 broad.mit.edu 37 7 139611034 139611034 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:139611034G>T uc011kqv.1 + 4 414 c.250G>T c.(250-252)GGT>TGT p.G84C TBXAS1_uc003vvh.2_Missense_Mutation_p.G84C|TBXAS1_uc010lne.2_Missense_Mutation_p.G16C|TBXAS1_uc011kqu.1_Missense_Mutation_p.G35C|TBXAS1_uc003vvi.2_Missense_Mutation_p.G84C|TBXAS1_uc003vvj.2_Missense_Mutation_p.G84C|TBXAS1_uc011kqw.1_Missense_Mutation_p.G64C|TBXAS1_uc011kqx.1_Missense_Mutation_p.G84C NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 83 Helical; (Potential). 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 ovary(2)|breast(1) 3 Melanoma(164;0.0142) GTACTATCTTGGTCGTCGGAT 0.383000 NDUFB2 4708 broad.mit.edu 37 7 140402766 140402766 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:140402766T>C uc003vwa.2 + 2 263 c.199T>C c.(199-201)TTC>CTC p.F67L NDUFB2_uc010lnl.2_RNA NM_004546 NP_004537 O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 67 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.00956) NADH(DB00157) ACTCATGTGGTTCTGGATTCT 0.547000 TAS2R3 50831 broad.mit.edu 37 7 141464526 141464526 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:141464526C>T uc003vwp.1 + 1 630 c.568C>T c.(568-570)CTG>TTG p.L190L NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN taste receptor T2R3 190 Helical; Name=5; (Potential). sensory perception of taste taste receptor activity central_nervous_system(1) 1 Melanoma(164;0.0171) TCTGTGGTACCTGCCTCCCTT 0.502000 TAS2R4 50832 broad.mit.edu 37 7 141478798 141478798 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:141478798C>A uc003vwq.1 + 1 510 c.510C>A c.(508-510)ATC>ATA p.I170I NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 170 Extracellular (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) CATTTAATATCAGTGAGGGCA 0.418000 TRPV5 56302 broad.mit.edu 37 7 142605706 142605706 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:142605706C>T uc003wby.1 - 15 2428 c.2164G>A c.(2164-2166)GAT>AAT p.D722N NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 722 Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TCCTCTCCATCCCCCTCACTA 0.572000 KEL 3792 broad.mit.edu 37 7 142658099 142658099 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:142658099A>C uc003wcb.2 - 4 526 c.316T>G c.(316-318)TTT>GTT p.F106V NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 106 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) CCACAGGCAAAGCTGAAGAAG 0.527000 GBX1 2636 broad.mit.edu 37 7 150846112 150846112 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:150846112A>G uc011kvg.1 - 2 888 c.656T>C c.(655-657)CTG>CCG p.L219P NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 219 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAACTGTCCAGGAAACCGTC 0.622000 GALNT11 63917 broad.mit.edu 37 7 151800311 151800311 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:151800311G>A uc010lqg.1 + 4 764 c.534G>A c.(532-534)ACG>ACA p.T178T GALNT11_uc011kvm.1_Silent_p.T97T|GALNT11_uc003wku.2_Silent_p.T178T|GALNT11_uc003wkv.1_Silent_p.T178T|GALNT11_uc011kvn.1_RNA NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 178 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TAGACCGCACGCCAGCACACC 0.488000 GALNT11 63917 broad.mit.edu 37 7 151805218 151805218 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:151805218G>A uc010lqg.1 + 6 1038 c.808G>A c.(808-810)GTG>ATG p.V270M GALNT11_uc011kvm.1_Missense_Mutation_p.V189M|GALNT11_uc003wku.2_Missense_Mutation_p.V270M|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.V18M NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 270 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) GCACACCGTGGTGTGCCCAGT 0.607000 MLL3 58508 broad.mit.edu 37 7 151845212 151845212 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:151845212G>A uc003wla.2 - 52 14019 c.13800C>T c.(13798-13800)TGC>TGT p.C4600C MLL3_uc003wkz.2_Silent_p.C3718C|MLL3_uc003wkx.2_Silent_p.C758C|MLL3_uc003wky.2_Silent_p.C2164C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4600 FYR N-terminal. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCTCAATGGAGCACAGGTAGC 0.527000 N medulloblastoma CLN8 2055 broad.mit.edu 37 8 1728566 1728566 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:1728566A>C uc003wpo.3 + 3 999 c.694A>C c.(694-696)ACA>CCA p.T232P NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 232 TLC.|Helical; (Potential). cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GCCTCATTTGACACTGTTCCT 0.502000 PPP1R3B 79660 broad.mit.edu 37 8 8998807 8998807 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:8998807C>T uc003wsn.3 - 2 520 c.355G>A c.(355-357)GCA>ACA p.A119T PPP1R3B_uc003wso.3_Missense_Mutation_p.A118T NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 119 glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AAGTAATCTGCAGAGGGCTGG 0.493000 RP1L1 94137 broad.mit.edu 37 8 10470612 10470612 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:10470612G>A uc003wtc.2 - 4 1225 c.996C>T c.(994-996)GTC>GTT p.V332V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 332 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGTCCTCGCCGACCAGGTGGA 0.652000 RP1L1 94137 broad.mit.edu 37 8 10470689 10470689 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:10470689C>T uc003wtc.2 - 4 1148 c.919G>A c.(919-921)GAT>AAT p.D307N NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 307 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCATGTCATCGCCAGCCACC 0.647000 USP17L2 377630 broad.mit.edu 37 8 11995964 11995964 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:11995964C>T uc003wvc.1 - 1 306 c.306G>A c.(304-306)CCG>CCA p.P102P FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 102 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 TGGCAAGGGGCGGTGTGTATG 0.572000 LONRF1 91694 broad.mit.edu 37 8 12594548 12594548 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:12594548C>A uc003wwd.1 - 5 1278 c.1215G>T c.(1213-1215)GAG>GAT p.E405D LONRF1_uc011kxv.1_Missense_Mutation_p.E5D|LONRF1_uc010lsp.1_Missense_Mutation_p.E5D NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 405 proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) TTAAACAGTCCTCTCTGGCAG 0.418000 PCM1 5108 broad.mit.edu 37 8 17817868 17817868 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:17817868T>C uc003wyi.3 + 15 2659 c.2237T>C c.(2236-2238)CTA>CCA p.L746P PCM1_uc011kyh.1_Missense_Mutation_p.L746P|PCM1_uc003wyj.3_Missense_Mutation_p.L747P NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 746 Potential. 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) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) CAGAGAGAGCTAAAACAATTG 0.333000 T RET|JAK2 papillary thyroid|CML|MPD NAT2 10 broad.mit.edu 37 8 18257800 18257800 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:18257800C>T uc003wyw.1 + 2 394 c.287C>T c.(286-288)CCT>CTT p.P96L NM_000015 NP_000006 P11245 ARY2_HUMAN N-acetyltransferase 2 96 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity ovary(1)|skin(1) 2 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) TTTTACATCCCTCCAGTTAAC 0.502000 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of LZTS1 11178 broad.mit.edu 37 8 20107417 20107417 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:20107417T>G uc003wzr.2 - 3 1718 c.1607A>C c.(1606-1608)AAG>ACG p.K536T LZTS1_uc010ltg.1_Missense_Mutation_p.K477T NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 536 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CACCTTCTCCTTCTCCTCCTT 0.637000 LZTS1 11178 broad.mit.edu 37 8 20110667 20110667 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:20110667C>A uc003wzr.2 - 2 886 c.775G>T c.(775-777)GAC>TAC p.D259Y LZTS1_uc010ltg.1_Missense_Mutation_p.D259Y NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 259 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CTGCACTCGTCCGTGGAGATG 0.632000 GFRA2 2675 broad.mit.edu 37 8 21608373 21608373 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:21608373C>T uc003wzu.1 - 4 1196 c.521G>A c.(520-522)TGC>TAC p.C174Y GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 174 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CAGCTTCTTGCAGTTGTCATT 0.617000 HR 55806 broad.mit.edu 37 8 21978604 21978604 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:21978604C>T uc003xas.2 - 10 3006 c.2341G>A c.(2341-2343)GCC>ACC p.A781T HR_uc003xat.2_Missense_Mutation_p.A781T NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 781 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTGACGGGGGCGAAGGCCATG 0.672000 HR 55806 broad.mit.edu 37 8 21985114 21985114 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:21985114C>T uc003xas.2 - 3 1506 c.841G>A c.(841-843)GCT>ACT p.A281T HR_uc003xat.2_Missense_Mutation_p.A281T NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 281 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGGGGACAAGCGGGCCAGGAG 0.642000 BMP1 649 broad.mit.edu 37 8 22066962 22066962 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:22066962C>T uc003xbg.2 + 19 2824 c.2580C>T c.(2578-2580)TGC>TGT p.C860C BMP1_uc011kzc.1_Silent_p.C609C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 860 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CTACAGAGTGCGGGGGCCAGG 0.637000 KIAA1967 57805 broad.mit.edu 37 8 22473348 22473348 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:22473348G>A uc003xch.2 + 13 1668 c.1531G>A c.(1531-1533)GCA>ACA p.A511T KIAA1967_uc003xci.2_Missense_Mutation_p.A511T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A180T NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 511 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGCTGTCATCGCACGCCCTGG 0.572000 LOXL2 4017 broad.mit.edu 37 8 23174526 23174526 + Silent SNP G G A rs142665521 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:23174526G>A uc003xdh.1 - 9 1911 c.1572C>T c.(1570-1572)GAC>GAT p.D524D LOXL2_uc010lty.1_Silent_p.D63D NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 524 SRCR 4. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CGTCCTCCCCGTCGTGGCGGC 0.652000 NEFM 4741 broad.mit.edu 37 8 24771399 24771399 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:24771399G>A uc003xed.3 + 1 126 c.93G>A c.(91-93)CCG>CCA p.P31P NEFM_uc011lac.1_Silent_p.P31P|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 31 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 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) GCGGCTCCCCGTCCAGTGGCT 0.682000 TRIM35 23087 broad.mit.edu 37 8 27145310 27145310 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:27145310C>T uc003xfl.1 - 6 1321 c.1239G>A c.(1237-1239)TCG>TCA p.S413S TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 413 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) TGGCTGGGTCCGAGGTCACGC 0.682000 KIF13B 23303 broad.mit.edu 37 8 29005051 29005051 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:29005051G>A uc003xhh.3 - 17 1941 c.1882C>T c.(1882-1884)CGC>TGC p.R628C KIF13B_uc003xhj.2_Missense_Mutation_p.R525C NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 628 Potential. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGCCTCTGGCGCTCCAGTGCA 0.453000 WRN 7486 broad.mit.edu 37 8 30958372 30958372 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:30958372G>A uc003xio.3 + 18 2777 c.1989G>A c.(1987-1989)ACG>ACA p.T663T WRN_uc010lvk.2_Silent_p.T130T NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 663 Helicase ATP-binding. 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 ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CAGGTATCACGCTCATTGCTG 0.393000 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome UNC5D 137970 broad.mit.edu 37 8 35579836 35579836 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:35579836A>G uc003xjr.1 + 9 1554 c.1226A>G c.(1225-1227)GAC>GGC p.D409G UNC5D_uc003xjs.1_Missense_Mutation_p.D404G|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.D167G NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 409 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGCCAGAGTGACTATGGCGTG 0.552000 RAB11FIP1 80223 broad.mit.edu 37 8 37730005 37730005 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:37730005G>A uc003xkm.1 - 4 2359 c.2315C>T c.(2314-2316)GCG>GTG p.A772V RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 772 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AAGAGGGGGCGCCACTTCTTC 0.567000 IKBKB 3551 broad.mit.edu 37 8 42175289 42175289 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:42175289C>T uc003xow.1 + 12 1417 c.1240C>T c.(1240-1242)CTT>TTT p.L414F IKBKB_uc010lxh.1_Missense_Mutation_p.L309F|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.L191F|IKBKB_uc003xox.1_Missense_Mutation_p.L135F|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.L412F|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.L355F NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 414 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CAGCTGTATCCGTAAGAATTT 0.428000 HOOK3 84376 broad.mit.edu 37 8 42837826 42837826 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:42837826A>G uc003xpr.2 + 14 1620 c.1378A>G c.(1378-1380)ACA>GCA p.T460A HOOK3_uc010lxq.1_Missense_Mutation_p.T460A NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 460 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AGAGATTGTTACACCTGAAAT 0.378000 T RET papillary thyroid PRKDC 5591 broad.mit.edu 37 8 48825009 48825009 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:48825009C>T uc003xqi.2 - 25 2952 c.2895G>A c.(2893-2895)ACG>ACA p.T965T PRKDC_uc003xqj.2_Silent_p.T965T|PRKDC_uc011ldh.1_Silent_p.T965T NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 965 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCACAGGAAACGTCCGCTTAT 0.443000 NHEJ PXDNL 137902 broad.mit.edu 37 8 52721799 52721799 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:52721799G>A uc003xqu.3 - 1 207 c.106C>T c.(106-108)CGC>TGC p.R36C NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 36 LRRNT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCATGCAGCGGACGGTGCTC 0.572000 RP1 6101 broad.mit.edu 37 8 55540178 55540178 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:55540178G>A uc003xsd.1 + 4 3884 c.3736G>A c.(3736-3738)GCC>ACC p.A1246T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1246 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 skin(7)|ovary(4)|pancreas(1) 12 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) TGAGGCATGTGCCCCTGAAGT 0.458000 RP1 6101 broad.mit.edu 37 8 55540519 55540519 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:55540519T>G uc003xsd.1 + 4 4225 c.4077T>G c.(4075-4077)ACT>ACG p.T1359T RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1359 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 skin(7)|ovary(4)|pancreas(1) 12 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) TGGATTCAACTGAAGAGTTAG 0.338000 CYP7A1 1581 broad.mit.edu 37 8 59409231 59409231 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:59409231G>A uc003xtm.3 - 3 903 c.840C>T c.(838-840)CTC>CTT p.L280L NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 280 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGAGGACCACGAGGTGTGTCT 0.443000 Neonatal_Giant_Cell_Hepatitis TOX 9760 broad.mit.edu 37 8 59728047 59728047 + Silent SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:59728047A>C uc003xtw.1 - 7 1463 c.1242T>G c.(1240-1242)GCT>GCG p.A414A NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 414 nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 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) GAGGGGACACAGCCATGTTTG 0.567000 CHD7 55636 broad.mit.edu 37 8 61765914 61765914 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:61765914G>T uc003xue.2 + 31 7107 c.6630G>T c.(6628-6630)GAG>GAT p.E2210D NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2210 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GTGAGGCAGAGGCCAGCTCTG 0.502000 PDE7A 5150 broad.mit.edu 37 8 66639191 66639191 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:66639191A>G uc003xvq.2 - 9 851 c.839T>C c.(838-840)GTA>GCA p.V280A PDE7A_uc003xvr.2_Missense_Mutation_p.V280A|PDE7A_uc003xvp.2_Missense_Mutation_p.V254A NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 280 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) ATTTTCCAGTACTGAGGTATT 0.383000 UBE2W 55284 broad.mit.edu 37 8 74722818 74722818 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:74722818C>A uc003xzv.2 - 4 310 c.257G>T c.(256-258)AGC>ATC p.S86I UBE2W_uc003xzt.2_Missense_Mutation_p.S86I|UBE2W_uc003xzu.2_Missense_Mutation_p.S97I|UBE2W_uc003xzw.2_RNA NM_018299 NP_060769 Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) 86 protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity 0 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) ATGACCATTGCTATAAACATG 0.368000 MMP16 4325 broad.mit.edu 37 8 89198805 89198805 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:89198805C>T uc003yeb.3 - 3 586 c.304G>A c.(304-306)GGT>AGT p.G102S MMP16_uc003yec.2_Missense_Mutation_p.G102S NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 102 Cysteine switch (By similarity). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCAGGTACACCGCATCGGGGC 0.378000 CALB1 793 broad.mit.edu 37 8 91078155 91078155 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:91078155T>C uc003yel.1 - 6 603 c.421A>G c.(421-423)ACA>GCA p.T141A CALB1_uc011lge.1_Missense_Mutation_p.T84A NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 141 nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) GCTAATTTTGTGTCATCAACA 0.343000 KIAA1429 25962 broad.mit.edu 37 8 95531636 95531636 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:95531636T>G uc003ygo.1 - 9 2103 c.2090A>C c.(2089-2091)CAC>CCC p.H697P KIAA1429_uc003ygp.2_Missense_Mutation_p.H697P|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 697 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CACACCAGGGTGAGCACTTGT 0.393000 GDF6 392255 broad.mit.edu 37 8 97157037 97157037 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:97157037C>T uc003yhp.2 - 2 1222 c.1122G>A c.(1120-1122)GCG>GCA p.A374A NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 374 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) ACTCCAGGGGCGCGATAATCC 0.622000 TSPYL5 85453 broad.mit.edu 37 8 98289908 98289908 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:98289908A>G uc003yhy.2 - 1 269 c.165T>C c.(163-165)GCT>GCC p.A55A NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 55 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 large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) ACCCCGCGCCAGCCTGCACCT 0.751000 POP1 10940 broad.mit.edu 37 8 99168525 99168525 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:99168525G>A uc003yij.3 + 15 2405 c.2305G>A c.(2305-2307)GCA>ACA p.A769T POP1_uc011lgv.1_Missense_Mutation_p.A769T|POP1_uc003yik.2_Missense_Mutation_p.A769T NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 769 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CCCCAGGGAGGCAGAGGAGGT 0.537000 VPS13B 157680 broad.mit.edu 37 8 100523683 100523683 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:100523683A>G uc003yiv.2 + 29 4762 c.4651A>G c.(4651-4653)ACA>GCA p.T1551A VPS13B_uc003yiw.2_Missense_Mutation_p.T1526A|VPS13B_uc003yix.1_Missense_Mutation_p.T1021A NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1551 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTATGTCAACACAAGTGTAAT 0.343000 RGS22 26166 broad.mit.edu 37 8 101076163 101076163 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:101076163A>C uc003yjb.1 - 8 1028 c.833T>G c.(832-834)GTG>GGG p.V278G RGS22_uc003yja.1_Missense_Mutation_p.V97G|RGS22_uc003yjc.1_Missense_Mutation_p.V266G|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 278 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATACAGACACCtcttcttc 0.333000 PABPC1 26986 broad.mit.edu 37 8 101733798 101733798 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:101733798G>A uc003yjs.1 - 1 518 c.14C>T c.(13-15)GCC>GTC p.A5V PABPC1_uc011lhc.1_Missense_Mutation_p.A5V|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.A5V|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 5 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GTAGCTGGGGGCACTGGGGTT 0.716000 NCALD 83988 broad.mit.edu 37 8 102731832 102731832 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:102731832C>T uc003yke.2 - 2 395 c.26G>A c.(25-27)CGC>CAC p.R9H NCALD_uc003ykf.2_Missense_Mutation_p.R9H|NCALD_uc003ykg.2_Missense_Mutation_p.R9H|NCALD_uc003ykh.2_Missense_Mutation_p.R9H|NCALD_uc003yki.2_Missense_Mutation_p.R9H|NCALD_uc003ykj.2_Missense_Mutation_p.R9H|NCALD_uc003ykk.2_Missense_Mutation_p.R9H|NCALD_uc003ykl.2_Missense_Mutation_p.R9H NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 9 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GACCTCCGGGCGCAGCTTGCT 0.478000 NUDCD1 84955 broad.mit.edu 37 8 110308619 110308619 + Missense_Mutation SNP T T A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:110308619T>A uc003ynb.3 - 3 564 c.453A>T c.(451-453)AAA>AAT p.K151N NUDCD1_uc003yna.2_Missense_Mutation_p.K122N|NUDCD1_uc010mcl.2_Missense_Mutation_p.K64N|NUDCD1_uc010mcm.1_Missense_Mutation_p.K64N NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 151 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) TCACCTCCCATTTTTCAGAAG 0.383000 CSMD3 114788 broad.mit.edu 37 8 113657441 113657441 + Silent SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:113657441T>G uc003ynu.2 - 20 3366 c.3207A>C c.(3205-3207)GGA>GGC p.G1069G CSMD3_uc003yns.2_Silent_p.G341G|CSMD3_uc003ynt.2_Silent_p.G1029G|CSMD3_uc011lhx.1_Silent_p.G965G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1069 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTCTAACATCTCCTCCACATA 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CSMD3 114788 broad.mit.edu 37 8 113966979 113966979 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:113966979T>C uc003ynu.2 - 8 1513 c.1354A>G c.(1354-1356)ATA>GTA p.I452V CSMD3_uc003ynt.2_Missense_Mutation_p.I412V|CSMD3_uc011lhx.1_Missense_Mutation_p.I348V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 452 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTAAAATCTATGGCCTTTTTC 0.284000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) COLEC10 10584 broad.mit.edu 37 8 120114599 120114599 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:120114599A>G uc003yoo.2 + 4 402 c.305A>G c.(304-306)GAA>GGA p.E102G NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 102 Collagen-like. collagen|cytoplasm mannose binding p.E102K(1) ovary(2)|skin(1) 3 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) GACAAAGGGGAAAAAGGTTTG 0.249000 ZHX2 22882 broad.mit.edu 37 8 123964734 123964734 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:123964734G>T uc003ypk.1 + 3 1551 c.984G>T c.(982-984)GAG>GAT p.E328D NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 328 Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) AGGTGGAGGAGGCCCGGAAGA 0.597000 FBXO32 114907 broad.mit.edu 37 8 124544175 124544175 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:124544175G>A uc003yqr.2 - 4 527 c.335C>T c.(334-336)GCC>GTC p.A112V FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Missense_Mutation_p.A112V NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 112 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATCCAGAATGGCAGTTGAGAA 0.478000 FAM91A1 157769 broad.mit.edu 37 8 124797903 124797903 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:124797903C>T uc003yqv.2 + 11 945 c.884C>T c.(883-885)GCC>GTC p.A295V FAM91A1_uc011lik.1_Missense_Mutation_p.A295V|FAM91A1_uc011lil.1_Missense_Mutation_p.A53V NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 295 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TTGGGCTTTGCCCATAAGAAG 0.308000 NSMCE2 286053 broad.mit.edu 37 8 126114681 126114681 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:126114681G>T uc003yrw.2 + 3 337 c.109G>T c.(109-111)GGT>TGT p.G37C NSMCE2_uc003yrv.2_Missense_Mutation_p.G37C NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 37 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TATCAACTCTGGTATGGACAC 0.418000 EFR3A 23167 broad.mit.edu 37 8 132952816 132952816 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:132952816T>C uc003yte.2 + 2 282 c.81T>C c.(79-81)GAT>GAC p.D27D NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 27 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCCCTGAAGATCCAAAAGTAA 0.423000 PHF20L1 51105 broad.mit.edu 37 8 133790097 133790097 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:133790097G>A uc003ytt.2 + 2 348 c.23G>A c.(22-24)CGC>CAC p.R8H PHF20L1_uc003ytr.2_Missense_Mutation_p.R8H|PHF20L1_uc010mdv.2_Missense_Mutation_p.R8H|PHF20L1_uc003yts.2_Missense_Mutation_p.R8H|PHF20L1_uc011lja.1_Missense_Mutation_p.R8H|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytq.2_Missense_Mutation_p.R8H NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 8 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CCCCCAAATCGCCCTGGAATC 0.363000 KHDRBS3 10656 broad.mit.edu 37 8 136569807 136569807 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:136569807T>C uc003yuv.2 + 5 982 c.588T>C c.(586-588)GGT>GGC p.G196G KHDRBS3_uc003yuw.2_Silent_p.G196G NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 196 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GTACAAGAGGTGTACCAGCCC 0.428000 DENND3 22898 broad.mit.edu 37 8 142199100 142199100 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:142199100G>A uc003yvy.2 + 19 3138 c.2860G>A c.(2860-2862)GCC>ACC p.A954T DENND3_uc010mep.2_Missense_Mutation_p.A915T|DENND3_uc003ywa.1_Missense_Mutation_p.A4T|DENND3_uc003ywb.2_Missense_Mutation_p.A4T NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 954 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|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;0.105) CATGGTGATGGCCGACCAGAA 0.403000 GPR20 2843 broad.mit.edu 37 8 142367165 142367165 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:142367165T>C uc003ywf.2 - 2 948 c.859A>G c.(859-861)AGC>GGC p.S287G NM_005293 NP_005284 Q99678 GPR20_HUMAN G protein-coupled receptor 20 287 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity upper_aerodigestive_tract(1) 1 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CTGTTGAGGCTGCTGAGGGTC 0.667000 LY6D 8581 broad.mit.edu 37 8 143867043 143867043 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:143867043C>T uc003yxf.1 - 2 189 c.113G>A c.(112-114)TGC>TAC p.C38Y NM_003695 NP_003686 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D precursor 38 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding 0 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) GCTGGCCGGGCAGACCACAGA 0.647000 GPIHBP1 338328 broad.mit.edu 37 8 144296900 144296900 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144296900G>A uc003yxu.1 + 3 269 c.194G>A c.(193-195)TGC>TAC p.C65Y NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 65 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTGCTGCGGTGCTACACCTGC 0.672000 ZNF696 79943 broad.mit.edu 37 8 144378828 144378828 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144378828G>A uc003yxy.3 + 3 1392 c.983G>A c.(982-984)CGC>CAC p.R328H NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 328 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CACTGCGGGCGCGCGTTCCGG 0.736000 EEF1D 1936 broad.mit.edu 37 8 144662275 144662275 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144662275G>A uc011lki.1 - 7 983 c.714C>T c.(712-714)TAC>TAT p.Y238Y NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.Y580Y|EEF1D_uc003yyq.1_Silent_p.Y654Y|EEF1D_uc011lkj.1_Silent_p.Y603Y|EEF1D_uc003yyr.2_Silent_p.Y604Y|EEF1D_uc003yyt.2_Silent_p.Y604Y|EEF1D_uc011lkk.1_Silent_p.Y238Y|EEF1D_uc003yys.2_Silent_p.Y238Y|EEF1D_uc003yyv.2_Silent_p.Y214Y|EEF1D_uc003yyu.2_Silent_p.Y238Y|EEF1D_uc011lkl.1_Silent_p.Y219Y NM_001130057 NP_001123529 P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta 238 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity ovary(1)|kidney(1)|skin(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TCCGGATACCGTAGCCCACGG 0.607000 FAM83H 286077 broad.mit.edu 37 8 144808253 144808253 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144808253C>T uc003yzk.2 - 5 3447 c.3378G>A c.(3376-3378)ATG>ATA p.M1126I FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1126 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCTCCTTGCGCATGCTCTCCA 0.697000 SCRIB 23513 broad.mit.edu 37 8 144885649 144885649 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144885649C>T uc003yzp.1 - 24 3514 c.3507G>A c.(3505-3507)ACG>ACA p.T1169T SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.T1169T NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1169 PDZ 4.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCTCGCCGTGCGTCAGGCCCA 0.701000 SCRIB 23513 broad.mit.edu 37 8 144890967 144890967 + Missense_Mutation SNP C C A rs147171813 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:144890967C>A uc003yzp.1 - 15 1934 c.1927G>T c.(1927-1929)GGG>TGG p.G643W SCRIB_uc003yzo.1_Missense_Mutation_p.G643W NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 643 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGCCAGCCCCCGGGAGCCACA 0.493000 SCRT1 83482 broad.mit.edu 37 8 145559733 145559733 + Silent SNP C C T rs142851592 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:145559733C>T uc003zbw.1 - 1 211 c.99G>A c.(97-99)GCG>GCA p.A33A NM_031309 NP_112599 Q9BWW7 SCRT1_HUMAN scratch 33 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CGTGCAGTGGCGCGCCGAGGT 0.672000 SLC39A4 55630 broad.mit.edu 37 8 145638044 145638044 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:145638044C>T uc003zcq.2 - 12 1922 c.1822G>A c.(1822-1824)GCG>ACG p.A608T SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.A110T|SLC39A4_uc003zco.2_Missense_Mutation_p.A332T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A583T NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 608 Cytoplasmic (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) TTCAACATCGCCGGGAGCTGA 0.687000 SLC39A4 55630 broad.mit.edu 37 8 145640473 145640473 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:145640473C>T uc003zcq.2 - 4 789 c.689G>A c.(688-690)CGC>CAC p.R230H SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Missense_Mutation_p.R205H NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 230 Extracellular (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CACCCCCAGGCGCTGCATCAA 0.682000 DOCK8 81704 broad.mit.edu 37 9 429720 429720 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:429720G>A uc003zgf.2 + 36 4604 c.4492G>A c.(4492-4494)GAA>AAA p.E1498K DOCK8_uc010mgu.2_Missense_Mutation_p.E800K|DOCK8_uc010mgv.2_Missense_Mutation_p.E1398K|DOCK8_uc003zgk.2_Missense_Mutation_p.E956K NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1498 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 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) CTTACTCTTTGAAGAGGAGGT 0.488000 DMRT3 58524 broad.mit.edu 37 9 990618 990618 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:990618C>T uc003zgw.1 + 2 1070 c.1032C>T c.(1030-1032)GCC>GCT p.A344A NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 344 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGTTTTCTGCCGACTCTAGCA 0.577000 KIAA0020 9933 broad.mit.edu 37 9 2811383 2811383 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:2811383T>C uc003zhp.1 - 15 1709 c.1613A>G c.(1612-1614)CAT>CGT p.H538R KIAA0020_uc010mhc.1_Missense_Mutation_p.H537R|KIAA0020_uc003zhq.1_Missense_Mutation_p.H537R NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 538 endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) GCCACCAGGATGCAGTCCTGT 0.527000 FREM1 158326 broad.mit.edu 37 9 14859279 14859279 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:14859279G>A uc003zlm.2 - 4 1123 c.533C>T c.(532-534)GCG>GTG p.A178V FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 178 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CCGAGTTCTCGCAGTGTCCAG 0.527000 TTC39B 158219 broad.mit.edu 37 9 15214143 15214143 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:15214143C>T uc003zlr.1 - 4 399 c.278G>A c.(277-279)CGC>CAC p.R93H TTC39B_uc003zlq.1_Missense_Mutation_p.R62H|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93H|TTC39B_uc011lmq.1_Missense_Mutation_p.R93H|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93H|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62H|TTC39B_uc011lms.1_RNA NM_152574 NP_689787 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 93 binding ovary(1) 1 TTACCAGGGGCGAAGCAATTC 0.368000 TEK 7010 broad.mit.edu 37 9 27204916 27204916 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:27204916G>A uc003zqi.3 + 14 2659 c.2217G>A c.(2215-2217)GCG>GCA p.A739A TEK_uc011lno.1_Silent_p.A696A|TEK_uc011lnp.1_Silent_p.A592A|TEK_uc003zqj.1_Silent_p.A673A NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 739 Extracellular (Potential). angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CAGCACCAGCGGACCTCGGAG 0.502000 IFNK 56832 broad.mit.edu 37 9 27524595 27524595 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:27524595C>A uc003zqp.2 + 1 284 c.261C>A c.(259-261)TTC>TTA p.F87L MOBKL2B_uc003zqn.2_Intron NM_020124 NP_064509 Q9P0W0 IFNK_HUMAN interferon kappa precursor 87 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) AGAAGGCCTTCTATGAAATGT 0.423000 TOPORS 10210 broad.mit.edu 37 9 32550787 32550787 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:32550787C>T uc003zrb.2 - 2 350 c.183G>A c.(181-183)GCG>GCA p.A61A TOPORS_uc003zrc.2_Intron|uc003zrd.2_5'Flank NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 61 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AGGATGCCGGCGCAGGCCTGG 0.721000 UNC13B 10497 broad.mit.edu 37 9 35396854 35396854 + Missense_Mutation SNP G G A rs140663072 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:35396854G>A uc003zwq.2 + 27 3497 c.3205G>A c.(3205-3207)GTG>ATG p.V1069M UNC13B_uc003zwr.2_Missense_Mutation_p.V1069M NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1069 MHD1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TGAGCAGTTCGTGCTACAATG 0.552000 OR13J1 392309 broad.mit.edu 37 9 35869700 35869700 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:35869700C>A uc011lph.1 - 1 699 c.699G>T c.(697-699)AGG>AGT p.R233S NM_001004487 NP_001004487 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) CTTTGCAGCACCTGGCGGCCG 0.582000 FRMPD1 22844 broad.mit.edu 37 9 37740128 37740128 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:37740128G>A uc004aag.1 + 15 1647 c.1603G>A c.(1603-1605)GTA>ATA p.V535I FRMPD1_uc004aah.1_Missense_Mutation_p.V535I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V357I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V404I NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 535 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GGTGGACTGCGTACTCGAACC 0.557000 APBA1 320 broad.mit.edu 37 9 72046264 72046264 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:72046264C>A uc004ahh.2 - 13 2769 c.2493G>T c.(2491-2493)CAG>CAT p.Q831H NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 831 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 CAGGCTGCTCCTGGGCCGTCA 0.582000 TMEM2 23670 broad.mit.edu 37 9 74360375 74360375 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:74360375G>A uc011lsa.1 - 4 1133 c.593C>T c.(592-594)TCC>TTC p.S198F TMEM2_uc010mos.2_Missense_Mutation_p.S198F|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 198 G8. integral to membrane ovary(2) 2 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) TGTCGCTTTGGATTTATAGCG 0.428000 RORB 6096 broad.mit.edu 37 9 77275630 77275630 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:77275630A>C uc004aji.2 + 5 817 c.768A>C c.(766-768)GAA>GAC p.E256D RORB_uc004ajh.2_Missense_Mutation_p.E245D NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 256 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 ACACCTATGAAGAAATTAAAG 0.383000 TRPM6 140803 broad.mit.edu 37 9 77415342 77415342 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:77415342C>T uc004ajl.1 - 17 2304 c.2066G>A c.(2065-2067)CGC>CAC p.R689H TRPM6_uc004ajk.1_Missense_Mutation_p.R684H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.R67H NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 689 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CATGGCCATGCGCTCATTCTG 0.512000 PRUNE2 158471 broad.mit.edu 37 9 79469112 79469112 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:79469112G>A uc010mpk.2 - 2 173 c.49C>T c.(49-51)CGC>TGC p.R17C PRUNE2_uc004akn.2_Missense_Mutation_p.R17C NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 17 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTCTCCAAGCGTTTGCTTCGA 0.338000 FLJ46321 389763 broad.mit.edu 37 9 84608351 84608351 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:84608351T>G uc004amn.2 + 4 3013 c.2966T>G c.(2965-2967)GTC>GGC p.V989G NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 989 integral to membrane 0 CCTCACCCTGTCTCCTCACCT 0.507000 NFIL3 4783 broad.mit.edu 37 9 94172784 94172784 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:94172784T>C uc004arh.2 - 2 628 c.233A>G c.(232-234)GAA>GGA p.E78G NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 78 Basic motif. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 CCGCCTTTTTTCCCAATACAT 0.423000 ZNF169 169841 broad.mit.edu 37 9 97062645 97062645 + Missense_Mutation SNP C C T rs10993152 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:97062645C>T uc004aum.1 + 5 910 c.805C>T c.(805-807)CGT>TGT p.R269C NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 269 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) TGAGTGTGGGCGTCGGTTTAG 0.572000 FBP2 8789 broad.mit.edu 37 9 97349699 97349699 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:97349699C>T uc004auv.2 - 2 290 c.223G>A c.(223-225)GAT>AAT p.D75N NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 75 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) GATAGCACATCCAGTTTCTTC 0.488000 C9orf102 375748 broad.mit.edu 37 9 98643499 98643499 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:98643499G>A uc004avt.3 + 2 816 c.428G>A c.(427-429)CGG>CAG p.R143Q C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 143 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GAAGGAACCCGGTTTCTTTAT 0.378000 SLC44A1 23446 broad.mit.edu 37 9 108136891 108136891 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:108136891G>A uc004bcn.2 + 13 1728 c.1507G>A c.(1507-1509)GCC>ACC p.A503T SLC44A1_uc010mtk.1_Missense_Mutation_p.A503T|SLC44A1_uc004bco.1_Missense_Mutation_p.A295T NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 503 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TGCATACACAGCCACAGCTAT 0.413000 IKBKAP 8518 broad.mit.edu 37 9 111674625 111674625 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:111674625C>T uc004bdm.3 - 11 1628 c.1108G>A c.(1108-1110)GCC>ACC p.A370T IKBKAP_uc004bdl.2_Missense_Mutation_p.A21T|IKBKAP_uc011lwc.1_Missense_Mutation_p.A256T|IKBKAP_uc010mtq.2_Missense_Mutation_p.A21T NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 370 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CAATCATAGGCGAGGTAATGC 0.527000 MUSK 4593 broad.mit.edu 37 9 113445033 113445033 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:113445033C>A uc004bey.2 + 2 257 c.159C>A c.(157-159)TCC>TCA p.S53S MUSK_uc004bex.2_Silent_p.S53S NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 53 Ig-like 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 CAGTGGAATCCTACCCCCAGC 0.343000 C9orf84 158401 broad.mit.edu 37 9 114484788 114484788 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:114484788G>T uc004bfr.2 - 13 1975 c.1840C>A c.(1840-1842)CTC>ATC p.L614I C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L575I|C9orf84_uc010mug.2_Missense_Mutation_p.L560I NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 614 ovary(2) 2 GCAGTAGGGAGGGTACACAAG 0.398000 COL27A1 85301 broad.mit.edu 37 9 117044798 117044798 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:117044798C>T uc011lxl.1 + 39 3833 c.3833C>T c.(3832-3834)CCT>CTT p.P1278L COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1278 Pro-rich.|Collagen-like 11.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCTGGACCCCCTGGCACTCCA 0.627000 TNC 3371 broad.mit.edu 37 9 117853180 117853180 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:117853180T>C uc004bjj.3 - 2 480 c.118A>G c.(118-120)ACC>GCC p.T40A TNC_uc010mvf.2_Missense_Mutation_p.T40A NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 40 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCTGGCAGGGTGGCGTTCACC 0.562000 ASTN2 23245 broad.mit.edu 37 9 120176829 120176829 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:120176829G>A uc004bjs.1 - 1 489 c.388C>T c.(388-390)CGC>TGC p.R130C ASTN2_uc004bjr.1_Missense_Mutation_p.R130C|ASTN2_uc004bjt.1_Missense_Mutation_p.R130C NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 130 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 ACCGCGATGCGCCCCGGCAGC 0.692000 FBXW2 26190 broad.mit.edu 37 9 123550083 123550083 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:123550083A>G uc004bkl.1 - 3 615 c.454T>C c.(454-456)TAT>CAT p.Y152H FBXW2_uc011lyc.1_Missense_Mutation_p.Y23H|FBXW2_uc004bkn.2_Missense_Mutation_p.Y184H|FBXW2_uc004bkm.1_Missense_Mutation_p.Y152H|FBXW2_uc010mvj.1_Missense_Mutation_p.Y152H NM_012164 NP_036296 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 152 WD 1. proteolysis protein binding|ubiquitin-protein ligase activity urinary_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TAAAGTGCATACACTCTGGCA 0.393000 NR5A1 2516 broad.mit.edu 37 9 127262986 127262986 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:127262986C>T uc004boo.1 - 4 440 c.253G>A c.(253-255)GCT>ACT p.A85T NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 85 Nuclear receptor. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 ATACGGTCAGCGCGCACGGCT 0.542000 TBC1D13 54662 broad.mit.edu 37 9 131559481 131559481 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:131559481T>G uc010myj.2 + 7 654 c.531T>G c.(529-531)AGT>AGG p.S177R TBC1D13_uc010myk.2_Missense_Mutation_p.S177R|TBC1D13_uc010myl.2_5'UTR NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 177 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 GGAACCGGAGTGGGGTCACAA 0.537000 CRAT 1384 broad.mit.edu 37 9 131857859 131857859 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:131857859G>A uc004bxh.2 - 14 1980 c.1698C>T c.(1696-1698)TTC>TTT p.F566F CRAT_uc004bxg.2_Silent_p.F545F|CRAT_uc004bxk.3_Silent_p.F545F NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 566 F->A: Increases the KM for carnitine 18- fold and reduces enzyme activity 100- fold.|F->Y: No effect. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CCACGGGCCCGAAGAACATGA 0.607000 ASS1 445 broad.mit.edu 37 9 133355136 133355136 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:133355136G>A uc004bzm.2 + 11 1078 c.722G>A c.(721-723)GGC>GAC p.G241D ASS1_uc004bzn.2_Missense_Mutation_p.G241D|ASS1_uc010mza.2_Missense_Mutation_p.G317D|ASS1_uc004bzo.2_Missense_Mutation_p.G222D|ASS1_uc010mzb.2_Missense_Mutation_p.G279D|ASS1_uc004bzp.2_Missense_Mutation_p.G241D|ASS1_uc010mzc.2_Missense_Mutation_p.G241D NM_000050 NP_000041 P00966 ASSY_HUMAN argininosuccinate synthetase 1 241 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GTCAAGGATGGCACCACCCAC 0.652000 BAT2L1 84726 broad.mit.edu 37 9 134354725 134354725 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:134354725C>T uc004can.3 + 18 4900 c.4845C>T c.(4843-4845)GAC>GAT p.D1615D BAT2L1_uc004cao.3_Silent_p.D973D NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 1615 protein binding 0 AGCAAGGTGACGTGACCGTGC 0.572000 NTNG2 84628 broad.mit.edu 37 9 135073569 135073569 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:135073569G>A uc004cbh.2 + 3 1206 c.430G>A c.(430-432)GGC>AGC p.G144S NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 144 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CTTCGAGTACGGCCGGCCCAC 0.632000 BARHL1 56751 broad.mit.edu 37 9 135458245 135458245 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:135458245G>A uc004cbp.1 + 1 253 c.61G>A c.(61-63)GCC>ACC p.A21T NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 21 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) GGGCAGCCCCGCCCTTCCCAA 0.662000 RALGDS 5900 broad.mit.edu 37 9 136031293 136031293 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:136031293C>T uc011mcw.1 - 5 537 c.256G>A c.(256-258)GCA>ACA p.A86T GBGT1_uc004ccx.2_Silent_p.E26E|GBGT1_uc010nab.2_Silent_p.E73E|GBGT1_uc011mcx.1_Silent_p.E56E|GBGT1_uc004ccw.2_Silent_p.E73E|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.E73E NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:Variant_position_missing_in_Q12967_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCTACCTGTGCTCCAGCAGCT 0.557000 T CIITA PMBL|Hodgkin Lymphona| DBH 1621 broad.mit.edu 37 9 136501831 136501831 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:136501831C>T uc004cel.2 + 1 347 c.338C>T c.(337-339)GCG>GTG p.A113V NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 113 DOMON.|Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCCTATTTTGCGGTGAGTCTC 0.587000 BRD3 8019 broad.mit.edu 37 9 136901431 136901431 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:136901431G>A uc004cew.2 - 10 1847 c.1659C>T c.(1657-1659)GGC>GGT p.G553G BRD3_uc004cex.2_3'UTR NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 553 Lys-rich. nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CCTGCTTGCCGCCTTTCTTCA 0.602000 T NUT|C15orf55 lethal midline carcinoma of young people COL5A1 1289 broad.mit.edu 37 9 137642653 137642653 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:137642653C>T uc004cfe.2 + 13 1969 c.1587C>T c.(1585-1587)GGC>GGT p.G529G NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 529 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 skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 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) TTGGAGGTGGCGGCGATGCGG 0.637000 SDCCAG3 10807 broad.mit.edu 37 9 139302319 139302319 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:139302319C>T uc004chi.2 - 4 566 c.361G>A c.(361-363)GGC>AGC p.G121S SDCCAG3_uc004chj.2_Missense_Mutation_p.G98S|SDCCAG3_uc004chk.2_Missense_Mutation_p.G48S|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 121 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TTCGAGAGGCCGAGGTTCTTG 0.468000 FAM69B 138311 broad.mit.edu 37 9 139616671 139616671 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:139616671G>A uc004cik.2 + 4 495 c.401G>A c.(400-402)CGG>CAG p.R134Q FAM69B_uc004cil.2_Missense_Mutation_p.R47Q|SNHG7_uc004cim.2_RNA NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 134 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GCGGCCCCCCGGCGGGAGCTG 0.622000 LCN6 158062 broad.mit.edu 37 9 139641886 139641886 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:139641886A>C uc004ciy.2 - 2 265 c.220T>G c.(220-222)TCT>GCT p.S74A LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA NM_198946 NP_945184 P62502 LCN6_HUMAN lipocalin 6 precursor 74 single fertilization extracellular region binding 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05) CCGTGCTGAGAGGACAGCGTC 0.627000 C9orf86 55684 broad.mit.edu 37 9 139732066 139732066 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:139732066A>G uc004cji.1 + 9 1346 c.1078A>G c.(1078-1080)AGG>GGG p.R360G C9orf86_uc004cjj.1_Missense_Mutation_p.R361G|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R245G|C9orf86_uc004cjn.1_Missense_Mutation_p.R154G NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 360 Pro-rich. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) CATCATCTCTAGGCTGTTTGG 0.701000 MAMDC4 158056 broad.mit.edu 37 9 139749902 139749902 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:139749902G>A uc004cjs.2 + 12 1352 c.1302G>A c.(1300-1302)CCG>CCA p.P434P MAMDC4_uc011mej.1_Intron NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 434 Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCTGCAGCCGCTGCCTCCTG 0.706000 EXD3 54932 broad.mit.edu 37 9 140289857 140289857 + Splice_Site SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:140289857C>A uc004cmp.2 - 2 150 c.-46_splice c.e2-1 C9orf167_uc011mew.1_Intron|EXD3_uc010ncg.1_Splice_Site|EXD3_uc004cmr.2_Splice_Site|EXD3_uc004cms.2_Splice_Site|EXD3_uc004cmt.3_Splice_Site NM_017820 NP_060290 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding 0 GAACGAGGATCTGCAGAAACA 0.662000 ARRDC1 92714 broad.mit.edu 37 9 140508820 140508820 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:140508820G>A uc004cns.2 + 6 762 c.688G>A c.(688-690)GTC>ATC p.V230I ARRDC1_uc004cnt.2_Missense_Mutation_p.V105I|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.V210I|ARRDC1_uc004cnw.2_Missense_Mutation_p.V105I|ARRDC1_uc004cnp.1_Missense_Mutation_p.V230I|ARRDC1_uc004cnq.1_Missense_Mutation_p.V212I|ARRDC1_uc011mfb.1_Missense_Mutation_p.V105I|ARRDC1_uc004cnx.1_Missense_Mutation_p.V105I|ARRDC1_uc004cny.2_RNA NM_152285 NP_689498 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 230 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) GGGTGCGGGCGTCAAGGCCTG 0.657000 CACNA1B 774 broad.mit.edu 37 9 140777297 140777297 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:140777297C>T uc004cog.2 + 3 637 c.492C>T c.(490-492)AAC>AAT p.N164N uc004cof.1_RNA NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 164 Helical; Name=S3 of repeat I; (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) ACCTGCGGAACGGCTGGAACG 0.587000 PPP2R3B 28227 broad.mit.edu 37 X 322220 322220 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:322220C>T uc004cpg.2 - 2 631 c.430G>A c.(430-432)GTC>ATC p.V144I PPP2R3B_uc011mha.1_5'UTR NM_013239 NP_037371 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', 144 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity 0 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) TTGCTGATGACGGCATCCACG 0.632000 CSF2RA 1438 broad.mit.edu 37 X 1413263 1413263 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:1413263C>T uc010nct.2 + 9 1011 c.689C>T c.(688-690)ACG>ATG p.T230M CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 230 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 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) Sargramostim(DB00020) CGTTGCAACACGACGCACTGC 0.572000 MXRA5 25878 broad.mit.edu 37 X 3228137 3228137 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:3228137C>T uc004crg.3 - 7 8264 c.8107G>A c.(8107-8109)GTG>ATG p.V2703M NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2703 Ig-like C2-type 11. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGTCAAACACCGAGGCCTCA 0.602000 MXRA5 25878 broad.mit.edu 37 X 3242753 3242753 + Missense_Mutation SNP C C T rs148104868 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:3242753C>T uc004crg.3 - 5 1130 c.973G>A c.(973-975)GAG>AAG p.E325K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 325 extracellular region p.E325D(1) ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCCCGTGCTCGTCGGTCATA 0.468000 NLGN4X 57502 broad.mit.edu 37 X 6069136 6069136 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:6069136C>A uc010ndh.2 - 2 873 c.372G>T c.(370-372)CTG>CTT p.L124L NLGN4X_uc004crp.2_Silent_p.L124L|NLGN4X_uc004crq.2_Silent_p.L124L|NLGN4X_uc010ndi.2_Silent_p.L124L|NLGN4X_uc004crr.2_Silent_p.L124L|NLGN4X_uc010ndj.2_Silent_p.L124L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 124 Extracellular (Potential). 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 skin(2)|large_intestine(1)|ovary(1) 4 ACCAGATGGGCAGCATGTCAT 0.488000 KAL1 3730 broad.mit.edu 37 X 8522076 8522076 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:8522076C>T uc004csf.2 - 9 1421 c.1271G>A c.(1270-1272)CGA>CAA p.R424Q NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 424 axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 GCGAGTGGGTCGTCGTCTTTG 0.413000 BEND2 139105 broad.mit.edu 37 X 18189251 18189251 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:18189251G>A uc004cyj.3 - 13 2209 c.2055C>T c.(2053-2055)TGC>TGT p.C685C BEND2_uc010nfb.2_Silent_p.C594C NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 685 BEN 2. ovary(3)|kidney(1)|central_nervous_system(1) 5 ACAGGCTTGCGCAAGACTTAG 0.428000 KLHL34 257240 broad.mit.edu 37 X 21674964 21674964 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:21674964C>T uc004czz.1 - 1 1485 c.943G>A c.(943-945)GAG>AAG p.E315K NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 315 Glu-rich. ovary(1) 1 tcttcttcctcGGGCTCTGGG 0.532000 ZNF645 158506 broad.mit.edu 37 X 22291233 22291233 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:22291233A>G uc004dai.1 + 1 174 c.125A>G c.(124-126)AAG>AGG p.K42R NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 42 intracellular zinc ion binding lung(1)|pancreas(1) 2 GGGGACATTAAGATAAACATC 0.348000 DDX3X 1654 broad.mit.edu 37 X 41203054 41203054 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:41203054C>T uc004dfe.2 + 8 1599 c.744C>T c.(742-744)GGC>GGT p.G248G DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 248 Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 ATGGTCCAGGCGAGGCTTTGA 0.408000 HNSCC(61;0.18) ZNF81 347344 broad.mit.edu 37 X 47775480 47775480 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:47775480T>C uc010nhy.1 + 6 1803 c.1435T>C c.(1435-1437)TTC>CTC p.F479L NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 479 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TGGGAAATCTTTCCCTTCTAA 0.433000 OTUD5 55593 broad.mit.edu 37 X 48781133 48781133 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:48781133G>A uc004dlu.2 - 7 1536 c.1475C>T c.(1474-1476)GCG>GTG p.A492V OTUD5_uc004dlt.3_Missense_Mutation_p.A487V|OTUD5_uc004dlv.2_Missense_Mutation_p.A487V|OTUD5_uc011mmp.1_Missense_Mutation_p.A270V NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 492 negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 CTGACCTGGCGCACAGGGCGA 0.493000 TFE3 7030 broad.mit.edu 37 X 48887806 48887806 + Missense_Mutation SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:48887806C>G uc004dmb.3 - 10 1829 c.1591G>C c.(1591-1593)GGG>CGG p.G531R TFE3_uc004dmc.3_Missense_Mutation_p.G426R NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 531 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CCCACCACCCCCTCCTCCTCC 0.662000 T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal PPP1R3F 89801 broad.mit.edu 37 X 49127204 49127204 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:49127204C>T uc004dnh.1 + 1 888 c.872C>T c.(871-873)CCC>CTC p.P291L PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 291 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) GCACCCGCTCCCACACCCACT 0.677000 HUWE1 10075 broad.mit.edu 37 X 53574996 53574996 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:53574996C>T uc004dsp.2 - 68 10676 c.10274G>A c.(10273-10275)AGC>AAC p.S3425N HUWE1_uc004dsn.2_Missense_Mutation_p.S2233N NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3425 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GGCCTCGAGGCTGTATGGAGA 0.542000 FAM120C 54954 broad.mit.edu 37 X 54107839 54107839 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:54107839A>G uc004dsz.3 - 14 2977 c.2894T>C c.(2893-2895)GTG>GCG p.V965A FAM120C_uc011moh.1_Missense_Mutation_p.W828R NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 965 ovary(1)|central_nervous_system(1) 2 CCACTGGCCCACAACCATCCC 0.507000 TSR2 90121 broad.mit.edu 37 X 54470537 54470537 + Nonsense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:54470537A>T uc004dte.2 + 4 363 c.361A>T c.(361-363)AAG>TAG p.K121* TSR2_uc004dtf.2_Nonsense_Mutation_p.K26* NM_058163 NP_477511 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog 121 rRNA processing protein binding 0 GAGAAAATGCAAGGTCACAGC 0.547000 ITIH5L 347365 broad.mit.edu 37 X 54815025 54815025 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:54815025A>T uc004dtj.2 - 5 704 c.674T>A c.(673-675)ATC>AAC p.I225N NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 225 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GCAGTAGGTGATTCGGACACA 0.572000 ALAS2 212 broad.mit.edu 37 X 55047483 55047483 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:55047483A>G uc004dua.3 - 5 776 c.638_splice c.e5+1 p.Q213_splice ALAS2_uc004dub.3_Splice_Site_p.Q200_splice|ALAS2_uc004dud.3_Splice_Site_p.Q176_splice NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CCTACTACTCACTGTGTGGCT 0.493000 RRAGB 10325 broad.mit.edu 37 X 55757850 55757850 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:55757850G>T uc004dup.2 + 6 1082 c.431G>T c.(430-432)CGA>CTA p.R144L RRAGB_uc004duq.2_Missense_Mutation_p.R116L NM_016656 NP_057740 Q5VZM2 RRAGB_HUMAN Ras-related GTP binding B long isoform 144 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction Golgi apparatus|lysosome|nucleus GTP binding|protein binding 0 AACATCTTCCGAAATGTGGAG 0.398000 ZXDA 7789 broad.mit.edu 37 X 57936033 57936033 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:57936033G>A uc004dve.2 - 1 1035 c.822C>T c.(820-822)TGC>TGT p.C274C NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 274 C2H2-type 1.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGGTTTGCCCGCACAGCGCCT 0.706000 MTMR8 55613 broad.mit.edu 37 X 63579408 63579408 + Splice_Site SNP C C G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:63579408C>G uc004dvs.2 - 2 93 c.25_splice c.e2-1 p.V9_splice MTMR8_uc011mou.1_Splice_Site_p.V9_splice|MTMR8_uc004dvt.1_Splice_Site_p.V9_splice NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 CGTTTTCTACCTGTTATTGGA 0.393000 AR 367 broad.mit.edu 37 X 66943587 66943587 + Silent SNP C C T rs137852594 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:66943587C>T uc004dwu.1 + 8 3782 c.2667C>T c.(2665-2667)AGC>AGT p.S889S AR_uc004dwv.1_Silent_p.S357S NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 888 Ligand-binding.|Interaction with MYST2. 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 ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 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) ACATGGTGAGCGTGGACTTTC 0.473000 Androgen_Insensitivity_Syndrome OPHN1 4983 broad.mit.edu 37 X 67430049 67430049 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:67430049A>G uc004dww.3 - 9 1072 c.778T>C c.(778-780)TGC>CGC p.C260R OPHN1_uc011mpg.1_Missense_Mutation_p.C260R|OPHN1_uc004dwx.2_Missense_Mutation_p.C260R NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 260 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 GGAAGTTTGCATGTCTGGGGA 0.403000 IGBP1 3476 broad.mit.edu 37 X 69354476 69354476 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:69354476C>T uc004dxv.2 + 2 791 c.292C>T c.(292-294)CGT>TGT p.R98C IGBP1_uc004dxw.2_Missense_Mutation_p.R98C NM_001551 NP_001542 P78318 IGBP1_HUMAN immunoglobulin binding protein 1 98 B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction cytoplasm protein phosphatase type 2A regulator activity kidney(1)|pancreas(1) 2 CCCCAGCAAGCGTCTAGATCA 0.463000 ZDHHC15 158866 broad.mit.edu 37 X 74641702 74641702 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:74641702G>T uc004ecg.2 - 9 1338 c.860C>A c.(859-861)TCC>TAC p.S287Y ZDHHC15_uc004ech.2_Missense_Mutation_p.S278Y|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 287 integral to membrane zinc ion binding ovary(2) 2 TACTCACCTGGAACCAATAGG 0.418000 ATRX 546 broad.mit.edu 37 X 76938509 76938509 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:76938509T>C uc004ecp.3 - 9 2471 c.2239A>G c.(2239-2241)AGT>GGT p.S747G ATRX_uc004ecq.3_Missense_Mutation_p.S709G|ATRX_uc004eco.3_Missense_Mutation_p.S532G|ATRX_uc004ecr.2_Missense_Mutation_p.S679G|ATRX_uc010nlx.1_Missense_Mutation_p.S718G|ATRX_uc010nly.1_Missense_Mutation_p.S692G NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 747 Poly-Ser. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GAAGAAGAACTGTGACTCATC 0.348000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome PCDH19 57526 broad.mit.edu 37 X 99551740 99551740 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:99551740A>G uc010nmz.2 - 6 4658 c.2982T>C c.(2980-2982)TCT>TCC p.S994S PCDH19_uc004efw.3_Silent_p.S946S|PCDH19_uc004efx.3_Silent_p.S947S NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 994 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 TAGCTTCAATAGACAGCGCGA 0.582000 PCDH19 57526 broad.mit.edu 37 X 99662844 99662844 + Nonsense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:99662844G>T uc010nmz.2 - 1 2428 c.752C>A c.(751-753)TCG>TAG p.S251* PCDH19_uc004efw.3_Nonsense_Mutation_p.S251*|PCDH19_uc004efx.3_Nonsense_Mutation_p.S251* NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 251 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GTTGGGAGGCGAGTTTTCTGG 0.602000 CSTF2 1478 broad.mit.edu 37 X 100078882 100078882 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:100078882T>C uc004egh.2 + 5 510 c.452T>C c.(451-453)GTC>GCC p.V151A CSTF2_uc010nnd.2_Missense_Mutation_p.V151A|CSTF2_uc004egi.2_Missense_Mutation_p.V151A NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 151 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 CAGCTCTGTGTCCAGAATAGT 0.428000 DRP2 1821 broad.mit.edu 37 X 100515504 100515504 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:100515504G>A uc004egz.2 + 24 3137 c.2768G>A c.(2767-2769)AGC>AAC p.S923N DRP2_uc011mrh.1_Missense_Mutation_p.S845N NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 923 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GGGTCAAAGAGCCAGGATGTC 0.507000 NXF2B 728343 broad.mit.edu 37 X 101623733 101623733 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:101623733T>G uc004ejb.3 - 19 2501 c.629A>C c.(628-630)AAG>ACG p.K210T NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T NM_001099686 NP_001093156 Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2B 210 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding ovary(1) 1 TTGGCCTGGCTTCAACTTATT 0.478000 GPRASP2 114928 broad.mit.edu 37 X 101969892 101969892 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:101969892T>C uc004ejk.2 + 4 1429 c.95T>C c.(94-96)GTC>GCC p.V32A GPRASP2_uc004ejl.2_Missense_Mutation_p.V32A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V32A|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 32 cytoplasm protein binding ovary(1) 1 GAGAATGATGTCCCTCTGGTG 0.542000 NRK 203447 broad.mit.edu 37 X 105178281 105178281 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:105178281C>T uc004emd.2 + 20 3647 c.3344C>T c.(3343-3345)GCC>GTC p.A1115V NRK_uc010npc.1_Missense_Mutation_p.A783V NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1115 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GCCTCAAATGCCATTGACTCA 0.413000 HNSCC(51;0.14) NRK 203447 broad.mit.edu 37 X 105179301 105179301 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:105179301C>T uc004emd.2 + 21 3942 c.3639C>T c.(3637-3639)TGC>TGT p.C1213C NRK_uc010npc.1_Silent_p.C881C NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1213 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CTGAGATCTGCTGTGGTTCTT 0.353000 HNSCC(51;0.14) MUM1L1 139221 broad.mit.edu 37 X 105451074 105451074 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:105451074A>G uc004emf.1 + 4 2298 c.1649A>G c.(1648-1650)GAC>GGC p.D550G MUM1L1_uc004emg.1_Missense_Mutation_p.D550G NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 550 ovary(2)|pancreas(1)|skin(1) 4 GCTGCTCGGGACCGAGCCAAC 0.488000 TBC1D8B 54885 broad.mit.edu 37 X 106070528 106070528 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:106070528C>T uc004emo.2 + 7 1329 c.1164C>T c.(1162-1164)TGC>TGT p.C388C MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.C388C|TBC1D8B_uc004emn.2_Silent_p.C388C NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 388 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGCTCAGATGCGGAGCAGCTT 0.378000 MORC4 79710 broad.mit.edu 37 X 106236537 106236537 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:106236537C>A uc004emu.3 - 3 474 c.231G>T c.(229-231)GAG>GAT p.E77D MORC4_uc004emp.3_Translation_Start_Site|MORC4_uc004emv.3_Missense_Mutation_p.E77D|MORC4_uc004emw.3_Translation_Start_Site NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 77 ATP binding|zinc ion binding ovary(1) 1 TATTCTTGACCTCCTCAACAT 0.393000 COL4A6 1288 broad.mit.edu 37 X 107448667 107448667 + Splice_Site SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:107448667A>G uc004enw.3 - 11 793 c.690_splice c.e11+1 p.K230_splice COL4A6_uc004env.3_Splice_Site_p.K229_splice|COL4A6_uc011msn.1_Splice_Site_p.K229_splice|COL4A6_uc010npk.2_Splice_Site_p.K229_splice NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 AAAGCTGTTTACCTTGACTCC 0.403000 Alport_syndrome_with_Diffuse_Leiomyomatosis CAPN6 827 broad.mit.edu 37 X 110494317 110494317 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:110494317T>G uc004epc.1 - 8 1154 c.986A>C c.(985-987)GAC>GCC p.D329A CAPN6_uc011msu.1_Missense_Mutation_p.D74A NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 329 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 GCGGCAAAAGTCCTCCAAGCT 0.443000 CXorf56 63932 broad.mit.edu 37 X 118694234 118694234 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:118694234C>T uc004erk.1 - 2 285 c.239G>A c.(238-240)CGG>CAG p.R80Q CXorf56_uc004erj.1_Missense_Mutation_p.R31Q|CXorf56_uc011mtu.1_Missense_Mutation_p.R80Q NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 80 protein binding 0 CTCTTACCTCCGCAGATACAT 0.438000 AKAP14 158798 broad.mit.edu 37 X 119048691 119048691 + Silent SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:119048691T>C uc004ese.2 + 5 429 c.291T>C c.(289-291)CAT>CAC p.H97H AKAP14_uc004esf.2_Intron NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 97 cytoplasm 0 GCTGGGCACATGGCGTAGAGT 0.398000 C1GALT1C1 29071 broad.mit.edu 37 X 119760212 119760212 + Missense_Mutation SNP A A C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:119760212A>C uc004esy.2 - 3 1157 c.810T>G c.(808-810)TGT>TGG p.C270W C1GALT1C1_uc004esz.2_Missense_Mutation_p.C270W NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 270 Lumenal (Potential). integral to membrane 0 TATCTGAACAACAGCCTTCTA 0.403000 STAG2 10735 broad.mit.edu 37 X 123196831 123196831 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:123196831A>G uc004etz.3 + 17 2057 c.1718A>G c.(1717-1719)CAG>CGG p.Q573R STAG2_uc004eua.2_Missense_Mutation_p.Q573R|STAG2_uc004eub.2_Missense_Mutation_p.Q573R|STAG2_uc004euc.2_Missense_Mutation_p.Q573R|STAG2_uc004eud.2_Missense_Mutation_p.Q573R|STAG2_uc004eue.2_Missense_Mutation_p.Q573R NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 573 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GCCCTTCCTCAGTTATTAGCA 0.358000 STAG2 10735 broad.mit.edu 37 X 123217382 123217382 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:123217382A>G uc004etz.3 + 28 3375 c.3036A>G c.(3034-3036)CGA>CGG p.R1012R STAG2_uc004eua.2_Silent_p.R1012R|STAG2_uc004eub.2_Silent_p.R1012R|STAG2_uc004euc.2_Silent_p.R1012R|STAG2_uc004eud.2_Silent_p.R1012R|STAG2_uc004eue.2_Silent_p.R1012R NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 1012 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 AACTACTTCGACAAGACAAAA 0.343000 ODZ1 10178 broad.mit.edu 37 X 123775719 123775719 + Missense_Mutation SNP A A T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:123775719A>T uc004euj.2 - 11 2063 c.1999T>A c.(1999-2001)TCA>ACA p.S667T ODZ1_uc011muj.1_Missense_Mutation_p.S666T|ODZ1_uc010nqy.2_Missense_Mutation_p.S667T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 667 EGF-like 5.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCGTGTCCTGAGCACTGCTCT 0.478000 ODZ1 10178 broad.mit.edu 37 X 123775729 123775729 + Missense_Mutation SNP T T G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:123775729T>G uc004euj.2 - 11 2053 c.1989A>C c.(1987-1989)CAA>CAC p.Q663H ODZ1_uc011muj.1_Missense_Mutation_p.Q662H|ODZ1_uc010nqy.2_Missense_Mutation_p.Q663H NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 663 EGF-like 5.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGCACTGCTCTTGACATACAG 0.493000 ZDHHC9 51114 broad.mit.edu 37 X 128944952 128944952 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:128944952G>A uc004euv.2 - 9 1276 c.907C>T c.(907-909)CCA>TCA p.P303S ZDHHC9_uc004euw.2_Missense_Mutation_p.P303S NM_001008222 NP_001008223 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC domain containing 9 303 Cytoplasmic (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 TCCTCCAGTGGCAAAATACCC 0.527000 ZNF280C 55609 broad.mit.edu 37 X 129380885 129380885 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:129380885G>A uc004evm.2 - 3 280 c.126C>T c.(124-126)GAC>GAT p.D42D ZNF280C_uc010nrf.1_Silent_p.D42D NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 TCAGTTCATCGTCATCCTCAT 0.368000 DDX26B 203522 broad.mit.edu 37 X 134703344 134703344 + Silent SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:134703344A>G uc004eyw.3 + 10 1638 c.1275A>G c.(1273-1275)CCA>CCG p.P425P DDX26B_uc004eyx.3_5'UTR NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 425 0 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGCCTCCATACTACCTAT 0.318000 MAP7D3 79649 broad.mit.edu 37 X 135314039 135314039 + Silent SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:135314039G>A uc004ezt.2 - 8 1168 c.1077C>T c.(1075-1077)GAC>GAT p.D359D MAP7D3_uc004ezs.2_Silent_p.D323D|MAP7D3_uc011mwc.1_Silent_p.D341D|MAP7D3_uc010nsa.1_Silent_p.D317D NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 359 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) CGGGGGATGCGTCCATGCTCA 0.587000 FGF13 2258 broad.mit.edu 37 X 137715071 137715071 + Missense_Mutation SNP G G T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:137715071G>T uc004fam.2 - 5 1340 c.678C>A c.(676-678)AGC>AGA p.S226R FGF13_uc004fan.2_Missense_Mutation_p.S173R|FGF13_uc011mwi.1_Missense_Mutation_p.S207R|FGF13_uc004faq.2_Missense_Mutation_p.S236R|FGF13_uc004far.2_Missense_Mutation_p.S207R|FGF13_uc011mwj.1_Missense_Mutation_p.S236R|FGF13_uc011mwk.1_Missense_Mutation_p.S180R NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 226 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGACACTTCTGCTCTTGGTTG 0.522000 SOX3 6658 broad.mit.edu 37 X 139586596 139586596 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:139586596C>T uc004fbd.1 - 1 630 c.630G>A c.(628-630)CCG>CCA p.P210P NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 210 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) TCTTGCGGCGCGGTCGGTACT 0.512000 MAGEC3 139081 broad.mit.edu 37 X 140953283 140953283 + Missense_Mutation SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:140953283C>A uc011mwp.1 + 2 150 c.150C>A c.(148-150)GAC>GAA p.D50E NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 50 p.D50N(1) skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGATAAGGACTATTCTGCCT 0.507000 MAGEA3 4102 broad.mit.edu 37 X 151935622 151935622 + Missense_Mutation SNP A A G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:151935622A>G uc004fgp.2 - 3 754 c.545T>C c.(544-546)CTG>CCG p.L182P NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 182 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GGAGAGGCCCAGGCAGGTGGC 0.557000 NSDHL 50814 broad.mit.edu 37 X 152018835 152018835 + Silent SNP C C A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:152018835C>A uc004fgt.1 + 4 396 c.135C>A c.(133-135)GGC>GGA p.G45G NSDHL_uc004fgs.1_Silent_p.G45G NM_001129765 NP_001123237 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 45 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity 0 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TGATCGGTGGCTCTGGATTCC 0.517000 ZNF275 10838 broad.mit.edu 37 X 152612686 152612686 + Silent SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:152612686C>T uc004fhg.1 + 4 720 c.543C>T c.(541-543)TTC>TTT p.F181F ZNF275_uc011mym.1_Silent_p.F181F|ZNF275_uc011myn.1_Silent_p.F118F A6NFS0 A6NFS0_HUMAN SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275; 181 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAAAGCCCTTCGAGTGCGAGG 0.602000 BGN 633 broad.mit.edu 37 X 152770093 152770093 + Missense_Mutation SNP T T C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:152770093T>C uc004fhr.1 + 2 176 c.4T>C c.(4-6)TGG>CGG p.W2R BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 2 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCCGCCATGTGGCCCCTGTG 0.647000 PDZD4 57595 broad.mit.edu 37 X 153073995 153073995 + Missense_Mutation SNP C C T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:153073995C>T uc004fiz.1 - 2 366 c.116G>A c.(115-117)CGC>CAC p.R39H PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.R39H|PDZD4_uc011mze.1_Intron NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 39 R -> C (in a breast cancer sample; somatic mutation). cell cortex p.R39C(1) breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTTGGAGGAGCGCAGGGCCTG 0.642000 ARHGAP4 393 broad.mit.edu 37 X 153174968 153174968 + Silent SNP G G A rs61749033 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:153174968G>A uc004fjk.1 - 20 2478 c.2436C>T c.(2434-2436)GGC>GGT p.G812G ARHGAP4_uc004fjj.1_Silent_p.G163G|ARHGAP4_uc011mzf.1_Silent_p.G789G|ARHGAP4_uc004fjl.1_Silent_p.G852G|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 812 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGCCCTGCGCCCACCACCT 0.577000 FLNA 2316 broad.mit.edu 37 X 153596212 153596212 + Missense_Mutation SNP G G A rs28935469 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:153596212G>A uc004fkk.2 - 3 869 c.620C>T c.(619-621)CCG>CTG p.P207L FLNA_uc010nuu.1_Missense_Mutation_p.P207L NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 207 CH 2.|Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CCCCTCACCCGGGGCACAGCT 0.706000 TAZ 6901 broad.mit.edu 37 X 153640245 153640245 + Missense_Mutation SNP G G A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:153640245G>A uc004fkx.2 + 1 369 c.65G>A c.(64-66)AGC>AAC p.S22N DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'UTR|DNASE1L1_uc004fkv.1_5'UTR|DNASE1L1_uc004fkw.1_5'UTR|TAZ_uc004fky.2_Missense_Mutation_p.S22N|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S22N|TAZ_uc004flb.2_Missense_Mutation_p.S22N|TAZ_uc010nuy.2_Missense_Mutation_p.S22N|TAZ_uc004flc.3_Missense_Mutation_p.S22N NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 22 Helical; Signal-anchor; (Potential). cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CTGGCCAGCAGCGTCGTCATG 0.602000 PREPL 9581 broad.mit.edu 37 2 44550553 44550553 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:44550552_44550552TA>T uc002ruf.3 - 11 2706 c.1747_splice c.e11-1 p.A583_splice PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA. 583 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GAAAGGTGCCTAAAAAAAAGG 0.333 AMMECR1L 83607 broad.mit.edu 37 2 128628936 128628936 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:128628935_128628935TA>T uc002tpl.3 - 4 659 c.408_splice c.e4-1 p.Y136_splice AMMECR1L_uc002tpm.3_Splice_Site_p.Y136_splice NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA. 136 AMMECR1. central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) AAGAGCGGACTAAAAAAAGCA 0.438 SF3B1 23451 broad.mit.edu 37 2 198265663 198265664 + Splice_Site INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:198265662_198265663T>TA uc002uue.3 - 18 2545 c.2497_splice c.e18-1 p.L833_splice SNORD2_uc021vul.1_5'Flank NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 833 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATCAACTAACTAAAAAGAACAG 0.337 Mis myelodysplastic syndrome SCN10A 6336 broad.mit.edu 37 3 38750970 38750970 + Splice_Site DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:38750969_38750969CT>C uc003ciq.3 - 24 4281 c.4281_splice c.e24+1 p.K1427_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1427 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCACTTATCTTTTTTTTCT 0.413 FRYL 285527 broad.mit.edu 37 4 48544141 48544141 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:48544140_48544140TG>T uc003gyh.1 - 45 6198 c.5593_splice c.e45-1 p.G1865_splice FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1865 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CACAAATCCCTGGGGGGAAAA 0.363 ARHGAP26 23092 broad.mit.edu 37 5 142586763 142586763 + Splice_Site DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:142586762_142586762GC>G uc011dbj.2 + 21 2024 c.1989_splice c.e21-1 p.L663_splice ARHGAP26_uc003lmt.3_Splice_Site_p.L663_splice|ARHGAP26_uc003lmw.3_Intron NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 663 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity p.?(1) 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) ATGTCTTGCAGCCCCCCGAAT 0.582 TAF2 6873 broad.mit.edu 37 8 120805694 120805694 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:120805693_120805693TA>T uc003you.3 - 10 1462 c.1192_splice c.e10-1 p.E398_splice NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 398 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTCTAGCTCCTAAAAAATATA 0.284 DDX6 1656 broad.mit.edu 37 11 118629614 118629614 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:118629613_118629613TG>T uc001pub.2 - 9 1226 c.865_splice c.e9-1 p.N289_splice DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 289 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAG 0.423 T IGH@ B-NHL SCEL 8796 broad.mit.edu 37 13 78178491 78178491 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:78178490_78178490GA>G uc001vki.3 + 19 1268 c.1098_splice c.e19-1 p.G366_splice SCEL_uc010thx.2_Intron|SCEL_uc001vkj.3_Splice_Site_p.G346_splice NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 366 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) CTTTTTCAAAGAAAAAAAGAC 0.308 GABRB3 2562 broad.mit.edu 37 15 26866684 26866684 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:26866683_26866683TG>T uc001zbb.3 - 5 512 c.409_splice c.e5-1 p.D137_splice GABRB3_uc021sgg.1_Splice_Site_p.D10_splice|GABRB3_uc021sgh.1_Splice_Site|GABRB3_uc001zaz.3_Splice_Site_p.D81_splice|GABRB3_uc001zba.3_Splice_Site_p.D81_splice|GABRB3_uc001zbc.3_Splice_Site NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 81 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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) GGTATAATCCTGGGGGGAAAA 0.443 IL27 246778 broad.mit.edu 37 16 28515117 28515117 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:28515116_28515116TG>T uc002dqc.3 - 3 228 c.205_splice c.e3-1 p.A69_splice NPIPL1_uc010vct.2_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN Homo sapiens interleukin 27 (IL27), mRNA. 69 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 AGATTCCGCCTGGGGGGCAAG 0.642 TLE2 7089 broad.mit.edu 37 19 3028804 3028804 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:3028803_3028803TG>T uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTG 0.622 CPAMD8 27151 broad.mit.edu 37 19 17081703 17081703 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:17081702_17081702TG>T uc002nfb.3 - 18 2386 c.2354_splice c.e18+1 p.R785_splice NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 738 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGCCGTTACCTGGGGGGGTGC 0.572 CTCFL 140690 broad.mit.edu 37 20 56064027 56064027 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:56064026_56064026CA>C uc010giu.3 - 3 c.657_657TG>G CTCFL_uc010giv.3_Non-coding_Transcript Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CAAGTTTGCACAAAAAATGCA 0.453 MACF1 23499 broad.mit.edu 37 1 39785384 39785385 + Frame_Shift_Ins INS - - A rs146466275 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:39785384_39785385insA uc010ois.1 + 32 4214_4215 c.4009_4010insA c.(4009-4011)CAAfs p.Q1337fs MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc001cdc.1_Frame_Shift_Ins_p.Q424fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1337 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 ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 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) GGATCAATGTCAAAAATTTTCC 0.366 SPATA1 64173 broad.mit.edu 37 1 84981989 84981989 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:84981989delA uc001djz.1 + 2 212 c.13delA c.(13-15)AAAfs p.K5fs SPATA1_uc001djx.2_Frame_Shift_Del_p.K5fs|SPATA1_uc001djy.1_RNA NM_001081472 NP_001074941 spermatogenesis associated 1 central_nervous_system(1) 1 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) GAAGAAAGATAAAAAAAGAAA 0.294 TRIM58 25893 broad.mit.edu 37 1 248020822 248020822 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:248020822delG uc001ido.2 + 1 322 c.274delG c.(274-276)GGGfs p.G92fs NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 92 B box-type. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) cgcggggcccggggcgcggcg 0.667 FAM160A2 84067 broad.mit.edu 37 11 6238994 6238994 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:6238994delC uc001mcl.3 - 9 2181 c.1822delG c.(1822-1824)GAAfs p.E608fs FAM160A2_uc001mck.3_Frame_Shift_Del_p.E622fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.E608fs NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 608 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 tcctccccttcccccacgttg 0.383 NCOR2 9612 broad.mit.edu 37 12 124821593 124821593 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:124821593delG uc010tay.1 - 40 6007 c.5851delC c.(5851-5853)CGGfs p.R1951fs NCOR2_uc010taz.1_Frame_Shift_Del_p.R1935fs|NCOR2_uc010tax.1_Frame_Shift_Del_p.R62fs NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 1 1952 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGGGCGACCCGGGGGGCCTCC 0.726 MAP1A 4130 broad.mit.edu 37 15 43814941 43814941 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:43814941delA uc001zrt.2 + 4 1737 c.1270delA c.(1270-1272)AAAfs p.K424fs NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 424 Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE]. K -> P (in Ref. 1; AAB41132/AAB41133). cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 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) aaaagagatcaaaaaggagag 0.174 SHC2 25759 broad.mit.edu 37 19 438806 438806 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:438806delC uc002loq.3 - 4 632 c.632delG c.(631-633)GGCfs p.G211fs SHC2_uc002lop.3_5'UTR NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 211 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 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) GTTGCTCTTGCCCAGGACGGA 0.687 TGFB1 7040 broad.mit.edu 37 19 41836966 41836967 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:41836966_41836967insT uc002oqh.1 - 7 2030_2031 c.1163_1164insA c.(1162-1164)AAGfs p.K388fs CYP2F1_uc010xvw.1_Intron NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor 388 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) CTCAGCTGCACTTGCAGGAGCG 0.465 SPEG 10290 broad.mit.edu 37 2 220348470 220348470 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:220348470delG uc010fwg.2 + 30 6285 c.6285delG c.(6283-6285)CTGfs p.L2095fs NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2095 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGAGAGCCTGGGGGGCCGTG 0.726 AKAP9 10142 broad.mit.edu 37 7 91708403 91708403 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:91708403delA uc003ulg.2 + 31 7181 c.6956delA c.(6955-6957)GAAfs p.E2319fs AKAP9_uc003ulf.2_Frame_Shift_Del_p.E2311fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.E1942fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.E89fs NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2331 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTTATTGAAGAAAAAAATGAA 0.284 T BRAF papillary thyroid PRKDC 5591 broad.mit.edu 37 8 48733302 48733302 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:48733302delT uc003xqi.2 - 67 9371 c.9314delA c.(9313-9315)AATfs p.N3105fs PRKDC_uc003xqj.2_Frame_Shift_Del_p.N3105fs|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3105 KIP-binding.|FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTGAATGCCATTTTGAATGTA 0.299 NHEJ ACTRT2 140625 broad.mit.edu 37 1 2939156 2939156 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:2939155_2939155CG>C uc001ajz.3 + 0 1110 c.905_905CG>C c.(904-906)tcgfs p.S302fs NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 302 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) ATTGTGCTGTCGGGGGGCACT 0.612 NMNAT1 64802 broad.mit.edu 37 1 10042385 10042386 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:10042384_10042385T>TG uc001aqp.3 + 4 609_610 c.465_466T>TG c.(463-468)tgtgggfs p.C155fs NM_022787 NP_073624 Q9HAN9 NMNA1_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 1 (NMNAT1), mRNA. 155 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) AGCTGCTGTGTGGGGCAGATTT 0.485 MUL1 79594 broad.mit.edu 37 1 20827877 20827878 + Frame_Shift_Ins INS - - T rs147902092 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:20827876_20827877G>GT uc001bdi.4 - 3 522_523 c.365_366C>AC c.(364-366)aacfs p.N122fs NM_024544 NP_078820 Q969V5 MUL1_HUMAN Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA. 122 activation of JUN kinase activity|activation of caspase 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) AGGGCACTGTGTTGGTCCTCTG 0.510 ARID1A 8289 broad.mit.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:27105930_27105930TG>T uc001bmv.1 + 19 5914 c.5541_5541TG>T c.(5539-5541)ggtfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1847 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 SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.G1848fs*6(3)|p.G1847fs*36(1) 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) GGCGGATTGGTGGGGGGGACA 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" MACF1 23499 broad.mit.edu 37 1 39785385 39785386 + Frame_Shift_Ins INS - - A rs146466275 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:39785384_39785385C>CA uc021olt.1 + 29 4061_4062 c.4009_4010C>CA c.(4009-4011)caafs p.Q1337fs MACF1_uc021ols.1_Frame_Shift_Ins_p.Q1337fs|MACF1_uc001cdc.2_Frame_Shift_Ins_p.Q1337fs|MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 1337 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|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) GGATCAATGTCAAAAATTTTCC 0.366 MYSM1 114803 broad.mit.edu 37 1 59156023 59156023 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:59156022_59156022AT>A uc009wab.2 - 3 309 c.286_286AT>T c.(286-288)tacfs p.Y96fs MYSM1_uc001czc.3_Non-coding_Transcript|MYSM1_uc001czd.3_Frame_Shift_Del_p.Y96fs NM_001085487 NP_001078956 Q5VVJ2 MYSM1_HUMAN Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA. 96 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) CTCTTCATGTATTTTTTATCA 0.284 TTLL7 79739 broad.mit.edu 37 1 84383310 84383310 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:84383309_84383309GT>G uc001djc.3 - 13 1961 c.1565_1565AC>C c.(1564-1566)actfs p.T522fs TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 522 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity p.T522fs*19(1) kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) AGTCTTGGTAGTTTTTCCCAT 0.343 DNASE2B 58511 broad.mit.edu 37 1 84864322 84864322 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:84864321_84864321TG>T uc001djt.1 + 0 107 c.74_74TG>T c.(73-75)ctgfs p.L25fs UOX_uc009wcg.3_5'Flank NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA. 25 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) TTTGGGGTGCTGGGGGCAGCA 0.458 EVI5 7813 broad.mit.edu 37 1 93169000 93169000 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:93168999_93168999TA>T uc010otf.2 - 3 659 c.649_649TA>A c.(649-651)aagfs p.K217fs EVI5_uc001dox.3_Frame_Shift_Del_p.K217fs NM_005665 NP_005656 O60447 EVI5_HUMAN Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA. 217 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle Rab GTPase activator activity|protein binding 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) TCTTTTTCCTTAAAAAAGTTG 0.333 SLC16A1 6566 broad.mit.edu 37 1 113471890 113471891 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:113471889_113471890T>TG uc001ecx.3 - 1 873_874 c.41_42A>CA c.(40-42)ccafs p.P14fs SLC16A1_uc001ecy.3_Frame_Shift_Ins_p.P14fs|SLC16A1_uc001ecz.3_Frame_Shift_Ins_p.P14fs NM_001166496 NP_003042 P53985 MOT1_HUMAN Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA. 14 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGCCTCCATCTGGGGGGGTGTA 0.426 DENND2C 163259 broad.mit.edu 37 1 115165628 115165628 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:115165627_115165627CT>C uc001efd.1 - 5 1739 c.1037_1037AG>G c.(1036-1038)agtfs p.S346fs DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Frame_Shift_Del_p.S346fs NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 346 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) TTTAAAAGCACTTTTAGCGGG 0.378 TRIM46 80128 broad.mit.edu 37 1 155152179 155152180 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:155152178_155152179G>GC uc001fhs.1 + 7 1439_1440 c.1356_1357G>GC c.(1354-1359)ctgcccfs p.L452fs TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Ins_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Ins_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Ins_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Ins_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 452 Fibronectin type-III. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGCTGCCCCCCCATTC 0.644 MRPL24 79590 broad.mit.edu 37 1 156708445 156708445 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:156708444_156708444TG>T uc001fpw.1 - 1 192 c.53_53CA>A c.(52-54)catfs p.H18fs MRPL24_uc001fpx.1_Frame_Shift_Del_p.H18fs NM_024540 NP_663781 Q96A35 RM24_HUMAN Homo sapiens mitochondrial ribosomal protein L24 (MRPL24), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAG 0.577 IGSF9 57549 broad.mit.edu 37 1 159912846 159912846 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:159912845_159912845AG>A uc001fur.2 - 2 353 c.155_155CT>T c.(154-156)ctgfs p.L52fs IGSF9_uc001fuq.2_Frame_Shift_Del_p.L52fs NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 52 Ig-like 1. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GATGACATGCAgggggggccg 0.637 NAV1 89796 broad.mit.edu 37 1 201618272 201618272 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:201618271_201618271AC>A uc021phi.1 + 0 822 c.475_475AC>A c.(475-477)accfs p.T159fs NAV1_uc001gwu.3_Frame_Shift_Del_p.T159fs NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 159 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CGGCGCCAAGACCCCCCTGGC 0.697 NAV1 89796 broad.mit.edu 37 1 201750218 201750218 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:201750217_201750217TA>T uc021phi.1 + 4 1790 c.1443_1443TA>T c.(1441-1443)cctfs p.P481fs NAV1_uc001gwu.3_Frame_Shift_Del_p.P481fs|NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.2_Frame_Shift_Del_p.P90fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.P90fs|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 481 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding p.A480A(1)|p.A480V(1) breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGAAAGCCCCTAAAAAACTGG 0.512 GPATCH2 55105 broad.mit.edu 37 1 217793264 217793265 + Frame_Shift_Ins INS - - T rs3210309 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr1:217793263_217793264C>CT uc001hlf.1 - 1 730_731 c.634_635G>AG c.(634-636)agafs p.R212fs GPATCH2_uc001hlg.4_Frame_Shift_Ins_p.R212fs NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN Homo sapiens G patch domain containing 2 (GPATCH2), mRNA. 212 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TTTCAACTTTCTTTTTTTGACT 0.396 TPO 7173 broad.mit.edu 37 2 1507748 1507748 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:1507747_1507747AC>A uc002qwr.3 + 13 2500 c.2414_2414AC>A c.(2413-2415)cacfs p.H805fs TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Frame_Shift_Del_p.H805fs|TPO_uc002qwx.3_Frame_Shift_Del_p.H748fs|TPO_uc002qwu.3_Frame_Shift_Del_p.H748fs|TPO_uc010yio.2_Frame_Shift_Del_p.H632fs|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 805 EGF-like; calcium-binding (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity p.H805L(2) breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GACGGTGCCCACCCCCCCTGC 0.642 MSH6 2956 broad.mit.edu 37 2 48030640 48030641 + Frame_Shift_Ins INS - - C rs63749866 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:48030639_48030640A>AC uc002rwd.4 + 4 3405_3406 c.3253_3254A>AC c.(3253-3255)accfs p.T1085fs MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 1085 DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCCGGAAGATACCCCCCCCTTC 0.436 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome MPHOSPH10 10199 broad.mit.edu 37 2 71360643 71360643 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:71360642_71360642AT>A uc002sht.2 + 1 1056 c.704_704AT>A c.(703-705)gatfs p.D235fs MPHOSPH10_uc010feb.1_Frame_Shift_Del_p.D235fs NM_005791 NP_005782 O00566 MPP10_HUMAN Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA. 235 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GAAGATATTGATTTTTTTGAA 0.343 EIF5B 9669 broad.mit.edu 37 2 99985021 99985022 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:99985020_99985021G>GA uc002tab.3 + 6 1537_1538 c.1353_1354G>GA c.(1351-1356)aggaaafs p.R451fs NM_015904 NP_056988 O60841 IF2P_HUMAN Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA. 451 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity p.K450N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ATAAAAAGAGGAAAAAAATACC 0.347 EPB41L5 57669 broad.mit.edu 37 2 120836150 120836150 + Frame_Shift_Del DEL T T - rs35675992 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:120836149_120836149AT>A uc002tmg.3 + 9 986 c.795_795AT>A c.(793-795)ttafs p.L265fs EPB41L5_uc010flk.3_Frame_Shift_Del_p.L265fs|EPB41L5_uc010fll.3_Frame_Shift_Del_p.L265fs|EPB41L5_uc002tmh.4_Frame_Shift_Del_p.L265fs|EPB41L5_uc010flm.3_Frame_Shift_Del_p.L69fs NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA. 265 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AAATTGGCTTATTTTTTTGGT 0.313 AMMECR1L 83607 broad.mit.edu 37 2 128628936 128628936 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:128628935_128628935TA>T uc002tpl.3 - 4 659 c.408_splice c.e4-1 p.Y136_splice AMMECR1L_uc002tpm.3_Splice_Site_p.Y136_splice NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA. 136 AMMECR1. central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 9 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) AAGAGCGGACTAAAAAAAGCA 0.438 HOXD8 3234 broad.mit.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:176995457_176995457TC>T uc002uko.3 + 0 990 c.363_363TC>T c.(361-363)cctfs p.P121fs AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P121fs NM_019558 NP_062458 P13378 HXD8_HUMAN Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA. 121 Poly-Pro. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) cgccgccacctcccccCTGCG 0.692 COL5A2 1290 broad.mit.edu 37 2 189929324 189929324 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:189929323_189929323TC>T uc002uqk.3 - 24 1951 c.1676_1676GA>A c.(1675-1677)gatfs p.D559fs COL5A2_uc010frx.3_Frame_Shift_Del_p.D135fs NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 559 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) ACGTCCTGGATCCCCCTGGCT 0.527 SF3B1 23451 broad.mit.edu 37 2 198265663 198265664 + Splice_Site INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:198265662_198265663T>TA uc002uue.3 - 18 2545 c.2497_splice c.e18-1 p.L833_splice SNORD2_uc021vul.1_5'Flank NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 833 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATCAACTAACTAAAAAGAACAG 0.337 Mis myelodysplastic syndrome CFLAR 8837 broad.mit.edu 37 2 202005128 202005129 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:202005127_202005128C>CA uc002uxb.4 + 4 1036_1037 c.571_572C>CA c.(571-573)caafs p.Q191fs CFLAR_uc002uwz.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010zhk.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc010zhl.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc002uxc.4_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Frame_Shift_Ins_p.Q191fs|CFLAR_uc002uxe.2_Frame_Shift_Ins_p.Q191fs|CFLAR_uc021vuw.1_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsx.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Frame_Shift_Ins_p.Q191fs|CFLAR_uc010zhm.2_Frame_Shift_Ins_p.Q95fs|CFLAR_uc010fsz.3_5'UTR|DQ582762_uc021vux.1_5'Flank|CFLAR_uc002uxg.3_5'UTR|CFLAR-AS1_uc002uxh.1_Non-coding_Transcript NM_003879 NP_001189446 O15519 CFLAR_HUMAN Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA. 191 Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 AGCAGCAATCCAAAAGAGTCTC 0.376 INO80D 54891 broad.mit.edu 37 2 206874386 206874387 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:206874385_206874386T>TG uc002vaz.4 - 8 2080_2081 c.1675_1676A>CA c.(1675-1677)caafs p.Q559fs NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN Homo sapiens INO80 complex subunit D (INO80D), mRNA. 559 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AATGGGTTTTTGGGGTCGACGA 0.564 MAP2 4133 broad.mit.edu 37 2 210561667 210561668 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:210561666_210561667T>TA uc002vde.1 + 8 4661_4662 c.4413_4414T>TA c.(4411-4416)gctaaafs p.A1471fs MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Frame_Shift_Ins_p.A1467fs NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1471 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 p.T1474fs*14(1) 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) CTGAACTTGCTAAAAAAACAGA 0.366 SLC4A3 6508 broad.mit.edu 37 2 220504282 220504282 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:220504281_220504281TG>T uc002vmo.4 + 19 3391 c.3182_3182TG>T c.(3181-3183)ctgfs p.L1061fs SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 1034 Membrane (anion exchange). 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) ATTGGCTCCCTGGGGGGGCTC 0.642 STK25 10494 broad.mit.edu 37 2 242437662 242437662 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr2:242437661_242437661TG>T uc002wbm.3 - 7 1292 c.1021_1021CA>A c.(1021-1023)agtfs p.S341fs STK25_uc002wbl.3_3'UTR|STK25_uc002wbn.3_Frame_Shift_Del_p.S341fs|STK25_uc002wbo.3_Frame_Shift_Del_p.S264fs|STK25_uc010zos.2_Frame_Shift_Del_p.S247fs|STK25_uc010zot.2_Frame_Shift_Del_p.S267fs|STK25_uc002wbp.3_Frame_Shift_Del_p.S341fs|STK25_uc010fzo.3_Frame_Shift_Del_p.S264fs|STK25_uc010zou.2_Frame_Shift_Del_p.S247fs|STK25_uc010zov.2_Frame_Shift_Del_p.S247fs NM_006374 NP_006365 O00506 STK25_HUMAN Homo sapiens serine/threonine kinase 25 (STK25), mRNA. 341 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTCTGTGAACTGTGCAGGGCC 0.662 SCN10A 6336 broad.mit.edu 37 3 38750970 38750970 + Splice_Site DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:38750969_38750969CT>C uc003ciq.3 - 24 4281 c.4281_splice c.e24+1 p.K1427_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1427 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCACTTATCTTTTTTTTCT 0.413 QARS 5859 broad.mit.edu 37 3 49135641 49135641 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:49135640_49135640TA>T uc003cvx.3 - 21 2141 c.2136_2136TA>A c.(2134-2136)ttafs p.L712fs QARS_uc011bcc.2_Frame_Shift_Del_p.L165fs|QARS_uc011bcd.2_Frame_Shift_Del_p.L567fs|QARS_uc003cvy.3_Frame_Shift_Del_p.L567fs|QARS_uc011bce.2_Frame_Shift_Del_p.L701fs NM_005051 NP_005042 P47897 SYQ_HUMAN Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA. 712 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TCAGGTCACTTAAAAATCCAC 0.552 BBX 56987 broad.mit.edu 37 3 107492284 107492284 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:107492283_107492283TA>T uc010hpr.3 + 10 2042 c.1715_1715TA>T c.(1714-1716)atafs p.I572fs BBX_uc003dwk.4_Frame_Shift_Del_p.I572fs|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.I593fs|BBX_uc003dwm.4_Frame_Shift_Del_p.I572fs|BBX_uc003dwo.4_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA. 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CCAGAGGGTATAAAAGCAGAA 0.453 BOC 91653 broad.mit.edu 37 3 112991288 112991288 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:112991287_112991287AC>A uc003dzx.3 + 6 1319 c.698_698AC>A c.(697-699)tacfs p.Y233fs BOC_uc003dzy.3_Frame_Shift_Del_p.Y233fs|BOC_uc003dzz.3_Frame_Shift_Del_p.Y233fs|BOC_uc003eab.3_5'UTR NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 233 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CGCATCATCTACCCCCCAGAG 0.627 PARP15 165631 broad.mit.edu 37 3 122345823 122345823 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:122345822_122345822GA>G uc003efm.2 + 8 1446 c.1380_1380GA>G c.(1378-1380)atgfs p.M460fs PARP15_uc003efn.2_Intron|PARP15_uc003efo.1_Frame_Shift_Del_p.M207fs|PARP15_uc003efp.1_Frame_Shift_Del_p.M226fs|PARP15_uc011bjt.1_Intron NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA. 438 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) ACGACAGCATGAAAAAAAGAG 0.373 CCNL1 57018 broad.mit.edu 37 3 156877202 156877203 + Frame_Shift_Del DEL TG TG - rs144436389 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:156877201_156877202CTG>C uc003fbf.3 - 1 969_970 c.370_371CAG>G c.(370-372)agtfs p.S124fs CCNL1_uc003fbd.1_Frame_Shift_Del_p.S124fs|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript|CCNL1_uc003fbi.1_5'UTR NM_020307 NP_064703 Q9UK58 CCNL1_HUMAN Homo sapiens cyclin L1 (CCNL1), mRNA. 124 Cyclin-like 1. RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) TACCTCGAAACTGTGTTTGACG 0.525 KIAA0226 9711 broad.mit.edu 37 3 197427915 197427916 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr3:197427914_197427915T>TG uc003fyc.2 - 6 1013_1014 c.830_831A>CA c.(829-831)ccafs p.P277fs KIAA0226_uc003fyd.3_Frame_Shift_Ins_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.3_Frame_Shift_Ins_p.P110fs|KIAA0226_uc003fyg.3_Frame_Shift_Ins_p.P270fs NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 277 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) AGACTGAAACTGGGGGGGCTTG 0.554 KLF3 51274 broad.mit.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:38690459_38690459TA>T uc003gth.4 + 2 643 c.311_311TA>T c.(310-312)atafs p.I104fs KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 104 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AGCCCACCGATAAAAAAATAC 0.617 RBM47 54502 broad.mit.edu 37 4 40434705 40434713 + In_Frame_Del DEL GCGGCTGCG GCGGCTGCG - rs139347188 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:40434704_40434712AGCGGCTGCG>A uc003gvc.2 - 5 2208_2216 c.1498_1506CGCAGCCGCT>T c.(1498-1506)gcagccgct>T p.AAA500del RBM47_uc003gvd.2_In_Frame_Del_p.AAA431del|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_In_Frame_Del_p.AAA462del NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 500 Ala-rich. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TGGGAATGACAgcggctgcggcggctgcg 0.565 GABRG1 2565 broad.mit.edu 37 4 46060358 46060359 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:46060357_46060358C>CA uc003gxb.3 - 6 944_945 c.792_793G>TG c.(790-795)tttgacfs p.F264fs NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(2)|p.D265Y(2) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTGCTCAGGTCAAAAAAAATTG 0.297 FRYL 285527 broad.mit.edu 37 4 48544141 48544141 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:48544140_48544140TG>T uc003gyh.1 - 45 6198 c.5593_splice c.e45-1 p.G1865_splice FRYL_uc003gyg.1_Splice_Site_p.G561_splice|FRYL_uc003gyi.1_Splice_Site_p.G753_splice|FRYL_uc003gyj.1_Splice_Site_p.G160_splice NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1865 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CACAAATCCCTGGGGGGAAAA 0.363 ANK2 287 broad.mit.edu 37 4 114280135 114280135 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:114280134_114280134AG>A uc003ibe.4 + 37 10460 c.10360_10360AG>A c.(10360-10362)aggfs p.R3454fs ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.R3469fs NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R3454S(1)|p.T3457fs*8(1) 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) ATCTTCCTGCAGGGGGGGCAC 0.458 MGST2 4258 broad.mit.edu 37 4 140624683 140624683 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr4:140624682_140624682TA>T uc003ihy.3 + 3 555 c.303_303TA>T c.(301-303)gctfs p.A101fs MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs NM_002413 NP_001191296 Q99735 MGST2_HUMAN Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA. 101 A -> V (in dbSNP:rs8192111). glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity lung(1)|ovary(1) 2 all_hematologic(180;0.162) Glutathione(DB00143) CAGAAGCTGCTAAAAAACGGT 0.408 DNAH5 1767 broad.mit.edu 37 5 13766156 13766156 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:13766155_13766155CT>C uc003jfd.2 - 58 10073 c.10031_10031AG>G c.(10030-10032)agcfs p.S3344fs DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3344 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) CATGGTACAGCTTTTTTCCAG 0.483 Kartagener syndrome DNAJC21 134218 broad.mit.edu 37 5 34945873 34945874 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:34945872_34945873T>TA uc003jjb.3 + 8 1376_1377 c.1149_1150T>TA c.(1147-1152)tctaaafs p.S383fs DNAJC21_uc003jjc.3_Frame_Shift_Ins_p.S383fs|DNAJC21_uc010iuu.1_Frame_Shift_Ins_p.S280fs|DNAJC21_uc003jjd.3_Non-coding_Transcript NM_194283 NP_919259 Q5F1R6 DJC21_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA. 383 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding p.Q386fs*52(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTAGGCTTTCTAAAAAACAGAA 0.307 MARVELD2 153562 broad.mit.edu 37 5 68736316 68736316 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:68736315_68736315GA>G uc003jwq.3 + 5 1616 c.1542_1542GA>G c.(1540-1542)aagfs p.K514fs MARVELD2_uc010ixf.3_Frame_Shift_Del_p.K502fs|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 514 Poly-Lys. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AAGAGTTTAAGAAAAAAAAGA 0.264 RASA1 5921 broad.mit.edu 37 5 86675571 86675571 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:86675570_86675570GA>G uc003kiw.3 + 18 2705 c.2506_2506GA>G c.(2506-2508)gaafs p.E836fs RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.E659fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.E669fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.E670fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.E658fs NM_002890 NP_002881 P20936 RASA1_HUMAN Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA. 836 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis cytosol|intrinsic to internal side of plasma membrane GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ATCAAAGTTAGAAAAAAATGA 0.308 ZNF608 57507 broad.mit.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:123984683_123984683GC>G uc003ktq.1 - 3 1577 c.1394_1394GC>C c.(1393-1395)gccfs p.A465fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 465 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TTTCCCATTGGCCCCCCCTCT 0.627 MEGF10 84466 broad.mit.edu 37 5 126732274 126732274 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:126732273_126732273CA>C uc003kuh.4 + 6 824 c.462_462CA>C c.(460-462)tgcfs p.C154fs MEGF10_uc010jdc.1_Frame_Shift_Del_p.C154fs|MEGF10_uc010jdd.1_Frame_Shift_Del_p.C154fs|MEGF10_uc003kui.4_Frame_Shift_Del_p.C154fs NM_032446 NP_115822 Q96KG7 MEG10_HUMAN Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA. 154 EGF-like 2.|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) GGTGCCAGTGCAAAAATGGGG 0.617 PCDHGC5 56097 broad.mit.edu 37 5 140794611 140794611 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:140794610_140794610TG>T uc003lkl.2 + 0 1868 c.1868_1868TG>T c.(1867-1869)gtgfs p.V623fs PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Frame_Shift_Del_p.V623fs|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 621 Cadherin 6. 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) CTCTTCGCGGTGGGGGAGCAC 0.687 ARHGAP26 23092 broad.mit.edu 37 5 142586763 142586763 + Splice_Site DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:142586762_142586762GC>G uc011dbj.2 + 21 2024 c.1989_splice c.e21-1 p.L663_splice ARHGAP26_uc003lmt.3_Splice_Site_p.L663_splice|ARHGAP26_uc003lmw.3_Intron NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 663 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity p.?(1) 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) ATGTCTTGCAGCCCCCCGAAT 0.582 SLC6A7 6534 broad.mit.edu 37 5 149580755 149580755 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:149580754_149580754AC>A uc003lrr.3 + 5 1197 c.826_826AC>A c.(826-828)accfs p.T276fs NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 276 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTTCTATCTCACCCCCCAGTT 0.632 FAT2 2196 broad.mit.edu 37 5 150946553 150946553 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:150946552_150946552GT>G uc003lue.4 - 0 1954 c.1941_1941AC>C c.(1939-1941)aacfs p.N647fs FAT2_uc010jhx.1_Frame_Shift_Del_p.N647fs NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 647 Cadherin 5. 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) GTGAGGCATAGTTTTTGCCAT 0.418 C5orf25 375484 broad.mit.edu 37 5 175772230 175772230 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:175772229_175772229CA>C uc003mds.4 + 11 2807 c.2400_2400CA>C c.(2398-2400)atcfs p.I800fs C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Frame_Shift_Del_p.I385fs|C5orf25_uc003mdv.3_Frame_Shift_Del_p.I261fs Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 800 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) ACTTAATAATCAAAAGGATTA 0.458 AGXT2L2 85007 broad.mit.edu 37 5 177658503 177658504 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr5:177658502_177658503G>GA uc003miz.3 - 1 333_334 c.81_82C>TC c.(79-84)tttcccfs p.F27fs AGXT2L2_uc003mjc.3_5'UTR|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA. 27 mitochondrion pyridoxal phosphate binding|transaminase activity breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1) 6 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GGATCCTCGGGAAAAAAGAGTC 0.550 JARID2 3720 broad.mit.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:15496721_15496721TG>T uc003nbj.3 + 6 1509 c.1265_1265TG>T c.(1264-1266)gtgfs p.V422fs JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.2_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 422 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) ACTAAGGAGGTGGGGGGGCGG 0.667 HLA-A 3105 broad.mit.edu 37 6 29910372 29910372 + Frame_Shift_Del DEL G G - rs77233523 byFrequency TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:29910371_29910371CG>C uc003nol.3 + 0 125 c.41_41CG>C c.(40-42)tcgfs p.S14fs HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Del_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA. 14 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 MHC class I protein complex|integral to plasma membrane MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CTGCTACTCTCGGGGGCCCTG 0.711 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) PRR3 80742 broad.mit.edu 37 6 30530201 30530201 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:30530200_30530200CA>C uc003nqi.2 + 3 1131 c.495_495CA>C c.(493-495)gccfs p.A165fs PRR3_uc003nqj.2_Frame_Shift_Del_p.A144fs NM_025263 NP_079539 P79522 PRR3_HUMAN Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA. 165 nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 GACATTTTGCCAAAAAGGGCC 0.473 TAP2 6891 broad.mit.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:32805787_32805787AG>A uc011dqf.1 - 1 346 c.224_224CT>T c.(223-225)ctgfs p.L75fs TAP2_uc003ocb.1_Frame_Shift_Del_p.L75fs|TAP2_uc003occ.3_Frame_Shift_Del_p.L75fs|TAP2_uc003ocd.3_Frame_Shift_Del_p.L75fs NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 75 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding GGAGACAGTCAGGGGGGTGGC 0.687 BAK1 578 broad.mit.edu 37 6 33543655 33543655 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:33543654_33543654TA>T uc003oes.3 - 2 422 c.122_122TA>A c.(121-123)tacfs p.Y41fs BAK1_uc003oer.3_5'Flank|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Frame_Shift_Del_p.Y41fs|BAK1_uc003oeu.3_Intron|BAK1_uc011drj.1_Frame_Shift_Del_p.Y41fs NM_001188 NP_001179 Q16611 BAK_HUMAN Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA. 41 activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria integral to mitochondrial outer membrane|pore complex metal ion binding|protein heterodimerization activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 CTGATGGCGGTAAAAAACGTA 0.597 MDFI 4188 broad.mit.edu 37 6 41617367 41617367 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:41617366_41617366AG>A uc003oqq.4 + 3 476 c.269_269AG>A c.(268-270)cagfs p.Q90fs MDFI_uc010jxn.3_Frame_Shift_Del_p.Q90fs NM_005586 NP_005577 Q99750 MDFI_HUMAN Homo sapiens MyoD family inhibitor (MDFI), mRNA. 90 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus p.P89A(2) 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) GGCCAGCCTCAGGGGAACCCC 0.627 MANEA 79694 broad.mit.edu 37 6 96053719 96053719 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:96053718_96053718GA>G uc003poo.2 + 4 1006 c.826_826GA>G c.(826-828)gaafs p.E276fs NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN Homo sapiens mannosidase, endo-alpha (MANEA), mRNA. 276 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) TACCAAGCCTGAAAAATGGGC 0.403 C6orf170 221322 broad.mit.edu 37 6 121563353 121563353 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:121563352_121563352AT>A uc003pyo.1 - 17 2220 c.2152_2152AT>T c.(2152-2154)ttafs p.L718fs C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_Frame_Shift_Del_p.L237fs NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 718 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity p.K717fs*29(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) CATACCTGTAATTTTTTTGCA 0.338 GPR126 57211 broad.mit.edu 37 6 142741019 142741020 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:142741018_142741019G>GT uc010khe.3 + 21 3507_3508 c.3096_3097G>GT c.(3094-3099)atgtttfs p.M1032fs GPR126_uc010khc.3_Frame_Shift_Ins_p.M1032fs|GPR126_uc010khd.3_Frame_Shift_Ins_p.M1004fs|GPR126_uc010khf.3_Frame_Shift_Ins_p.M1004fs|GPR126_uc011edv.2_Frame_Shift_Ins_p.M92fs NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 1032 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TTGGAGTCATGTTTTTTCTGAA 0.381 HIVEP2 3097 broad.mit.edu 37 6 143095843 143095843 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:143095842_143095842CT>C uc003qjd.3 - 4 777 c.34_34AG>G c.(34-36)gctfs p.A12fs NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 12 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) CTTGAGGTAGCTTTTTGTCCT 0.448 GRM1 2911 broad.mit.edu 37 6 146755374 146755375 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:146755373_146755374T>TC uc010khw.1 + 8 3496_3497 c.3026_3027T>TC c.(3025-3027)ctcfs p.L1009fs GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 1009 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) GAACCAGCCCTCCCCAAGGGCT 0.658 LATS1 9113 broad.mit.edu 37 6 150005455 150005455 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:150005454_150005454AG>A uc003qmu.1 - 3 1319 c.771_771CT>T c.(769-771)cctfs p.P257fs LATS1_uc010kif.1_Frame_Shift_Del_p.P152fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.P257fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.P257fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P152fs NM_004690 NP_004681 O95835 LATS1_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA. 257 G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TACCTCTTGGAGGGGGAGTCT 0.527 MLLT4 4301 broad.mit.edu 37 6 168272982 168272982 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr6:168272981_168272981GA>G uc021zik.1 + 3 698 c.379_379GA>G c.(379-381)gaafs p.E127fs MLLT4_uc003qwb.1_Frame_Shift_Del_p.E167fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.E168fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.E167fs NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 168 Ras-associating 1. 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) agaaaagaaggaaaaaaagaa 0.393 T MLL AL CARD11 84433 broad.mit.edu 37 7 2962854 2962854 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:2962853_2962853GC>G uc003smv.3 - 15 2389 c.2055_2055GC>C c.(2053-2055)ggcfs p.G685fs NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 685 PDZ. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.V685M(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCGCGCGTTGCCCCCCAGCA 0.701 Mis DLBCL COL28A1 340267 broad.mit.edu 37 7 7412846 7412846 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:7412845_7412845CT>C uc003src.1 - 31 2809 c.2692_2692AG>G c.(2692-2694)gtgfs p.V898fs COL28A1_uc011jxe.1_Frame_Shift_Del_p.V581fs NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 898 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) ACCAAGGCCACTTTTTTTACA 0.473 MPP6 51678 broad.mit.edu 37 7 24705666 24705667 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:24705665_24705666C>CA uc003swx.3 + 8 1208_1209 c.909_910C>CA c.(907-912)agcaaafs p.S303fs MPP6_uc003swy.3_Frame_Shift_Ins_p.S303fs NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA. 303 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CTATAAGTAGCAAAAAAAAGAA 0.302 SNX10 29887 broad.mit.edu 37 7 26404689 26404689 + Frame_Shift_Del DEL A A - rs141037310 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:26404688_26404688TA>T uc011jzg.2 + 5 570 c.303_303TA>T c.(301-303)tctfs p.S101fs SNX10_uc003sxx.3_Frame_Shift_Del_p.S78fs|SNX10_uc010kuu.3_Frame_Shift_Del_p.S78fs|SNX10_uc010kuv.3_Frame_Shift_Del_p.S75fs|SNX10_uc010kuw.3_5'UTR NM_001199838 NP_001186767 Q9Y5X0 SNX10_HUMAN Homo sapiens sorting nexin 10 (SNX10), transcript variant 4, mRNA. 78 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 AACTTCCATCTAAAAACCTGT 0.413 OREG0017908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CDK13 8621 broad.mit.edu 37 7 40134238 40134239 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:40134237_40134238A>AT uc003thh.4 + 13 4479_4480 c.4197_4198A>AT c.(4195-4200)tcatttfs p.S1399fs CDK13_uc003thi.4_Frame_Shift_Ins_p.S1339fs|CDK13_uc003thj.3_Frame_Shift_Ins_p.S450fs|CDK13_uc003thk.3_Frame_Shift_Ins_p.S332fs NM_003718 NP_003709 Q14004 CDK13_HUMAN Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA. 1399 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TTTCTGAGTCATTTCCCAGTTC 0.426 AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Ins INS - - AG TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:91671391_91671392C>CAG uc003ulg.3 + 18 5174_5175 c.4949_4950C>CAG c.(4948-4950)tcafs p.S1650fs AKAP9_uc003ulf.3_Frame_Shift_Ins_p.S1650fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.S1275fs NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AACCTGGTTTCAGAGAGAGAGA 0.416 T BRAF papillary thyroid TBXAS1 6916 broad.mit.edu 37 7 139719863 139719863 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:139719862_139719862CA>C uc011kqv.2 + 13 1941 c.1706_1706CA>C c.(1705-1707)ccafs p.P569fs TBXAS1_uc003vvh.3_Frame_Shift_Del_p.P523fs|TBXAS1_uc010lne.3_Frame_Shift_Del_p.P455fs|TBXAS1_uc003vvi.3_Frame_Shift_Del_p.P523fs|TBXAS1_uc011kqw.2_Frame_Shift_Del_p.P503fs|TBXAS1_uc003vvj.3_3'UTR NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 522 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) GCCCTAGGTCCAAAAAATGGT 0.438 CHPF2 54480 broad.mit.edu 37 7 150932283 150932283 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:150932282_150932282CG>C uc003wjr.1 + 1 1925 c.412_412CG>C c.(412-414)cggfs p.R138fs CHPF2_uc003wjq.1_Frame_Shift_Del_p.R130fs NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA. 138 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 CACTGGGCAGCGGGGGGCCCG 0.637 WDR60 55112 broad.mit.edu 37 7 158695164 158695164 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr7:158695163_158695163CA>C uc003woe.4 + 9 1392 c.1234_1234CA>C c.(1234-1236)caafs p.Q412fs WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN Homo sapiens WD repeat domain 60 (WDR60), mRNA. 412 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) TCCTCTAGCTCAAAAAAAGGA 0.373 ZNF395 55893 broad.mit.edu 37 8 28209226 28209227 + In_Frame_Ins INS - - GCA TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:28209225_28209226G>GGCA uc003xgq.3 - 6 1107_1108 c.1019_1020C>TGCC c.(1018-1020)gcc>gTGCC p.A340V ZNF395_uc003xgt.3_In_Frame_Ins_p.A340V|ZNF395_uc003xgr.3_In_Frame_Ins_p.A340V|ZNF395_uc003xgs.3_In_Frame_Ins_p.A340V NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN Homo sapiens zinc finger protein 395 (ZNF395), mRNA. 340 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGGTGCCTgcggcagcagcagc 0.609 TRPA1 8989 broad.mit.edu 37 8 72958792 72958792 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:72958791_72958791GT>G uc003xza.3 - 16 2193 c.2018_2018AC>C c.(2017-2019)acafs p.T673fs LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA. 673 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTGTGTAGGTGTTTTTTTGGT 0.269 LRRCC1 85444 broad.mit.edu 37 8 86041489 86041489 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:86041488_86041488TA>T uc003ycw.3 + 9 1708 c.1500_1500TA>T c.(1498-1500)attfs p.I500fs LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Frame_Shift_Del_p.I407fs|LRRCC1_uc010maa.2_Frame_Shift_Del_p.I201fs|LRRCC1_uc003ycy.3_Frame_Shift_Del_p.I480fs NM_033402 NP_208325 Q9C099 LRCC1_HUMAN Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA. 500 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAAATGAAATTAAAAAACTGA 0.323 KCNS2 3788 broad.mit.edu 37 8 99441339 99441340 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:99441338_99441339C>CG uc003yin.3 + 1 1481_1482 c.1131_1132C>CG c.(1129-1134)tacgggfs p.Y377fs KCNS2_uc022azb.1_Frame_Shift_Ins_p.Y377fs NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA. 377 voltage-gated potassium channel complex voltage-gated potassium channel activity p.Y377Y(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) CAGTGGGGTACGGGGATGTGGT 0.609 TAF2 6873 broad.mit.edu 37 8 120805694 120805694 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr8:120805693_120805693TA>T uc003you.3 - 10 1462 c.1192_splice c.e10-1 p.E398_splice NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA. 398 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTCTAGCTCCTAAAAAATATA 0.284 FREM1 158326 broad.mit.edu 37 9 14842654 14842654 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:14842653_14842653TC>T uc003zlm.3 - 9 2215 c.1399_1399GA>A c.(1399-1401)aaafs p.K467fs FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 467 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) AGAAACCCTTTCCCCCCTGAG 0.527 CNTLN 54875 broad.mit.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:17484352_17484352TA>T uc003zmz.2 + 23 3938 c.3912_3912TA>T c.(3910-3912)cttfs p.L1304fs CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 1305 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) TAAGAGAGCTTAAAAAAATGA 0.398 FGD3 89846 broad.mit.edu 37 9 95738900 95738900 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:95738899_95738899AC>A uc004asz.2 + 2 889 c.361_361AC>A c.(361-363)accfs p.T121fs FGD3_uc004asw.2_Frame_Shift_Del_p.T121fs|FGD3_uc004asx.2_Frame_Shift_Del_p.T121fs NM_033086 NP_149077 Q5JSP0 FGD3_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA. 121 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 Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.Q123fs*10(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCCGAAGGTCACCCCCCAGGA 0.657 ZNF462 58499 broad.mit.edu 37 9 109689690 109689690 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:109689689_109689689TC>T uc004bcz.3 + 2 3785 c.3496_3496TC>T c.(3496-3498)tccfs p.S1166fs MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.S1014fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.S1014fs NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 1166 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCCCAAGGCTCCCCCCGGCC 0.547 GAPVD1 26130 broad.mit.edu 37 9 128104522 128104522 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr9:128104521_128104521GA>G uc004bpp.3 + 17 3230 c.3070_3070GA>G c.(3070-3072)gaafs p.E1024fs GAPVD1_uc011lzs.1_Frame_Shift_Del_p.E997fs|GAPVD1_uc004bpq.3_Frame_Shift_Del_p.E997fs|GAPVD1_uc010mwx.3_Frame_Shift_Del_p.E997fs|GAPVD1_uc004bpr.3_Frame_Shift_Del_p.E976fs|GAPVD1_uc004bps.3_Intron|GAPVD1_uc010mwy.1_Frame_Shift_Del_p.E830fs NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 997 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TAGAAAGAAAGAAAAACAAGA 0.408 KIN 22944 broad.mit.edu 37 10 7820854 7820854 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:7820853_7820853GT>G uc001ijt.3 - 4 600 c.506_506AC>C c.(505-507)actfs p.T169fs KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_Frame_Shift_Del_p.T63fs NM_012311 NP_036443 O60870 KIN17_HUMAN Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA. 169 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix RNA binding|double-stranded DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AAATTTGGCAGTTTTTTCTTC 0.458 C10orf71 118461 broad.mit.edu 37 10 50530930 50530930 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:50530929_50530929CA>C uc021pqb.1 + 0 339 c.339_339CA>C c.(337-339)cccfs p.P113fs C10orf71_uc021pqa.1_Frame_Shift_Del_p.P112fs|C10orf71_uc021pqc.1_Frame_Shift_Del_p.P113fs NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 113 endometrium(1) 1 AAAAGTACCCCAAAACCAGCC 0.562 PCDH15 65217 broad.mit.edu 37 10 55569132 55569132 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:55569131_55569131CT>C uc021pqw.1 - 35 5083 c.4688_4688AG>G c.(4687-4689)agafs p.R1563fs PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Frame_Shift_Del_p.R1558fs|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 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) AACGATTCCTCTTTTATCAGC 0.423 HNSCC(58;0.16) PAX2 5076 broad.mit.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:102587323_102587323GC>G uc001krk.4 + 10 1732 c.1182_1182GC>G c.(1180-1182)ccgfs p.P394fs PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR NM_003990 NP_003981 Q02962 PAX2_HUMAN Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA. 394 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) TTATAGTGCCGCCCCCCGGGG 0.572 ATRNL1 26033 broad.mit.edu 37 10 116930893 116930893 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:116930892_116930892CA>C uc001lcg.3 + 7 1576 c.1190_1190CA>C c.(1189-1191)acafs p.T397fs ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Frame_Shift_Del_p.T397fs NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 397 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) TCATGGAGTACAAAAACTCCT 0.383 GLRX3 10539 broad.mit.edu 37 10 131958325 131958325 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr10:131958324_131958324GT>G uc001lkn.2 + 2 313 c.267_267GT>G c.(265-267)ctgfs p.L89fs GLRX3_uc001lkm.2_Frame_Shift_Del_p.L89fs|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR NM_001199868 NP_001186797 O76003 GLRX3_HUMAN Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA. 89 Thioredoxin. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CCACTTTTCTGTTTTTCAAGG 0.363 USH1C 10083 broad.mit.edu 37 11 17518326 17518327 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:17518325_17518326T>TG uc001mnf.3 - 19 1734_1735 c.1625_1626A>CA c.(1624-1626)ccafs p.P542fs USH1C_uc001mne.3_Frame_Shift_Ins_p.P842fs|USH1C_uc009yhb.3_Frame_Shift_Ins_p.P523fs|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Frame_Shift_Ins_p.P506fs NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 542 G2/M transition of mitotic cell cycle|equilibrioception|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 CATACTCCTTTGGGGGGCAGAC 0.579 SAAL1 113174 broad.mit.edu 37 11 18108473 18108474 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:18108472_18108473G>GA uc001mnq.3 - 8 1032_1033 c.982_983C>TC c.(982-984)tcafs p.S328fs SAAL1_uc001mnr.3_Frame_Shift_Ins_p.S328fs NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA. 328 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 AGACAACACTGAAAAAACAGAG 0.406 PTPN5 84867 broad.mit.edu 37 11 18751286 18751287 + Frame_Shift_Ins INS - - G rs138509696 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:18751285_18751286T>TG uc001mpd.3 - 12 1840_1841 c.1409_1410A>CA c.(1408-1410)ccafs p.P470fs PTPN5_uc001mpb.3_Frame_Shift_Ins_p.P438fs|PTPN5_uc001mpc.3_Frame_Shift_Ins_p.P470fs|PTPN5_uc010rdj.2_Frame_Shift_Ins_p.P414fs|PTPN5_uc001mpf.3_Frame_Shift_Ins_p.P446fs|PTPN5_uc001mpe.3_Frame_Shift_Ins_p.P438fs|PTPN5_uc010rdk.2_Frame_Shift_Ins_p.P415fs NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 470 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GGTGCAGGAGTGGGGGGGCCCG 0.678 RIN1 9610 broad.mit.edu 37 11 66102472 66102472 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:66102471_66102471CG>C uc001ohn.1 - 5 926 c.799_799CG>G c.(799-801)gtcfs p.V267fs RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Frame_Shift_Del_p.V162fs|RIN1_uc010rpa.1_Frame_Shift_Del_p.V162fs NM_004292 NP_004283 Q13671 RIN1_HUMAN Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA. 267 Pro-rich. 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 AGCACGGGGACGGGGGGAGGT 0.672 TBC1D10C 374403 broad.mit.edu 37 11 67177175 67177175 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:67177174_67177174GC>G uc001ola.3 + 9 1319 c.1290_1290GC>G c.(1288-1290)gggfs p.G430fs PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript NM_198517 NP_940919 Q8IV04 TB10C_HUMAN Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA. 430 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCATCGAGGGGCCCCCCAGGC 0.677 CCDC83 220047 broad.mit.edu 37 11 85593704 85593704 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr11:85593703_85593703GA>G uc001pbg.1 + 3 840 c.328_328GA>G c.(328-330)gaafs p.E110fs CCDC83_uc001pbh.1_Frame_Shift_Del_p.E110fs|CCDC83_uc001pbj.1_Frame_Shift_Del_p.E67fs|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 110 p.Q109K(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AAGAGACCAGGAAAAAAACTT 0.358 KCNA6 3742 broad.mit.edu 37 12 4919970 4919970 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:4919969_4919969TG>T uc001qng.3 + 0 1628 c.762_762TG>T c.(760-762)cttfs p.L254fs KCNA6_uc021qtr.1_Frame_Shift_Del_p.L254fs NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 254 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 TCAGTACTCTTGGGGGCTCCT 0.557 HNSCC(72;0.22) GOLT1B 51026 broad.mit.edu 37 12 21661406 21661406 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:21661405_21661405GT>G uc001rez.2 + 2 365 c.206_206GT>G c.(205-207)ggtfs p.G69fs GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Non-coding_Transcript|GOLT1B_uc009ziu.2_Intron NM_016072 NP_057156 Q9Y3E0 GOT1B_HUMAN Homo sapiens golgi transport 1B (GOLT1B), mRNA. 69 Phe-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum|integral to membrane signal transducer activity large_intestine(2)|lung(3) 5 AAAGCTACAGGTTTTTTTCTG 0.343 ARID2 196528 broad.mit.edu 37 12 46245449 46245449 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:46245448_46245448GT>G uc001ros.1 + 14 3542 c.3542_3542GT>G c.(3541-3543)agtfs p.S1181fs ARID2_uc001ror.3_Frame_Shift_Del_p.S1181fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S637fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S808fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S515fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1181 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCAAATACGAGTTTTGCACCT 0.473 """N, S, F""" hepatocellular carcinoma KRT75 9119 broad.mit.edu 37 12 52827889 52827889 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:52827888_52827888AC>A uc001saj.2 - 0 223 c.201_201GT>T c.(199-201)ggtfs p.G67fs NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 67 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CCCGCTTGGCACCCCCCAGGT 0.622 SP7 121340 broad.mit.edu 37 12 53722075 53722076 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:53722074_53722075A>AG uc001sct.3 - 1 1258_1259 c.1151_1152T>CT c.(1150-1152)cctfs p.P384fs SP7_uc001scv.3_Frame_Shift_Ins_p.P384fs|SP7_uc001scu.3_Frame_Shift_Ins_p.P366fs NM_152860 NP_690599 Q8TDD2 SP7_HUMAN Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA. 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGCCACTGGGAGGGGGACCCGG 0.658 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AMHR2 269 broad.mit.edu 37 12 53824050 53824050 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:53824049_53824049TG>T uc001scx.2 + 9 1488 c.1408_1408TG>T c.(1408-1410)tggfs p.W470fs AMHR2_uc009zmy.2_Frame_Shift_Del_p.P468fs|AMHR2_uc021qyg.1_Intron NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 470 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCCATCCACCTGGCGCTGCTT 0.597 OR6C4 341418 broad.mit.edu 37 12 55945454 55945455 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:55945453_55945454T>TG uc010spp.2 + 0 443_444 c.443_444T>TG c.(442-444)ttgfs p.L148fs NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGCTCCTGGTTGGGGGGATTCC 0.455 AVPR1A 552 broad.mit.edu 37 12 63541343 63541343 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:63541342_63541342TA>T uc001sro.1 - 1 3028 c.1054_1054TA>A c.(1054-1056)agtfs p.S352fs NM_000706 NP_000697 P37288 V1AR_HUMAN Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA. 352 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AGATGGCCACTAAAAAACATG 0.398 HELB 92797 broad.mit.edu 37 12 66704208 66704208 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:66704207_66704207TA>T uc001sti.2 + 3 1527 c.1499_1499TA>T c.(1498-1500)gtafs p.V500fs HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript NM_033647 NP_387467 Q8NG08 HELB_HUMAN Homo sapiens helicase (DNA) B (HELB), mRNA. 500 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) GAAAGAGAAGTAAAAAAAGCC 0.413 EEA1 8411 broad.mit.edu 37 12 93213103 93213103 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:93213102_93213102GT>G uc001tck.3 - 13 1975 c.1710_1710AC>C c.(1708-1710)aacfs p.N570fs NM_003566 NP_003557 Q15075 EEA1_HUMAN Homo sapiens early endosome antigen 1 (EEA1), mRNA. 570 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 GTAGTGTATGGTTTTTTTCTT 0.294 BTBD11 121551 broad.mit.edu 37 12 108011162 108011162 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:108011161_108011161AC>A uc001tmk.1 + 8 2700 c.2179_2179AC>A c.(2179-2181)accfs p.T727fs BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Frame_Shift_Del_p.T727fs|BTBD11_uc001tml.1_Frame_Shift_Del_p.T264fs NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 727 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AATTTCTACAACCCCCCAGGG 0.527 ACACB 32 broad.mit.edu 37 12 109577798 109577798 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:109577797_109577797TG>T uc001tob.3 + 1 706 c.587_587TG>T c.(586-588)ttgfs p.L196fs ACACB_uc001toc.3_Frame_Shift_Del_p.L196fs NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 196 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CGGGCCAGCTTGGGGGCCCTG 0.567 WSB2 55884 broad.mit.edu 37 12 118481123 118481123 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:118481122_118481122GC>G uc001twr.2 - 2 341 c.243_243GC>C c.(241-243)ggcfs p.G81fs WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Frame_Shift_Del_p.G81fs NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA. 81 intracellular signal transduction p.R80R(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTTTGGGCTGCCCCGCCCTT 0.547 COQ5 84274 broad.mit.edu 37 12 120966756 120966758 + In_Frame_Del DEL CTC CTC - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:120966755_120966757TCTC>T uc001tyn.3 - 0 208_210 c.188_190GAGA>A c.(187-192)gagaag>gAag p.K64del COQ5_uc010szj.2_In_Frame_Del_p.K64del NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA. 64 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTGCCCCCCTTCTCCTCTTCCGA 0.567 DNAH10 196385 broad.mit.edu 37 12 124311423 124311423 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:124311422_124311422GA>G uc001uft.4 + 23 4039 c.4014_4014GA>G c.(4012-4014)ttgfs p.L1338fs NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1338 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TTCTTGACTTGAAAAACGAGG 0.423 UBC 7316 broad.mit.edu 37 12 125396267 125396267 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr12:125396266_125396266AC>A uc001ugs.4 - 1 2510 c.2052_2052GT>T c.(2050-2052)ggtfs p.G684fs UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Frame_Shift_Del_p.G532fs|UBC_uc001ugu.1_Frame_Shift_Del_p.G608fs|UBC_uc001ugv.3_Frame_Shift_Del_p.G152fs|UBC_uc021rge.1_Frame_Shift_Del_p.G684fs NM_021009 NP_066289 P0CG48 UBC_HUMAN Homo sapiens ubiquitin C (UBC), mRNA. 684 Ubiquitin-like 9. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AAACTTAGACACCCCCCCTCA 0.413 ZC3H13 23091 broad.mit.edu 37 13 46616337 46616338 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:46616336_46616337T>TG uc010tfw.1 - 2 307_308 c.301_302A>CA c.(301-303)cagfs p.Q101fs ZC3H13_uc001vas.1_Frame_Shift_Ins_p.Q101fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.Q101fs NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA. 101 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATTTCGTTTCTGGGGCTCAGTG 0.411 SCEL 8796 broad.mit.edu 37 13 78178491 78178491 + Splice_Site DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:78178490_78178490GA>G uc001vki.3 + 19 1268 c.1098_splice c.e19-1 p.G366_splice SCEL_uc010thx.2_Intron|SCEL_uc001vkj.3_Splice_Site_p.G346_splice NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 366 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) CTTTTTCAAAGAAAAAAAGAC 0.308 SLITRK1 114798 broad.mit.edu 37 13 84455509 84455510 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:84455508_84455509C>CT uc001vlk.3 - 0 1020_1021 c.134_135G>AG c.(133-135)aagfs p.K45fs NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 45 LRRNT. integral to membrane p.K45fs*64(2) 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) TTGTGAAGCCCTTTTTTTCACA 0.465 ABCC4 10257 broad.mit.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:95735431_95735431CA>C uc001vmd.4 - 20 2768 c.2649_2649TG>G c.(2647-2649)ttgfs p.L883fs ABCC4_uc010afk.3_Frame_Shift_Del_p.L836fs NM_005845 NP_005836 O15439 MRP4_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA. 883 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTGACGTTTCCAAAAAATATC 0.438 TM9SF2 9375 broad.mit.edu 37 13 100181814 100181815 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr13:100181813_100181814G>GA uc001voj.1 + 3 559_560 c.426_427G>GA c.(424-429)ttgaaafs p.L142fs TM9SF2_uc010afz.1_Intron NM_004800 NP_004791 Q99805 TM9S2_HUMAN Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA. 142 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TAGAATTCTTGAAAAAAAGCAT 0.312 OR4L1 122742 broad.mit.edu 37 14 20528881 20528881 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:20528880_20528880CA>C uc001vwn.1 + 0 677 c.677_677CA>C c.(676-678)ccafs p.P226fs NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA. 226 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) GTCAGTGTACCAAAAAAATCA 0.438 IRF9 10379 broad.mit.edu 37 14 24635084 24635084 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:24635083_24635083GC>G uc001wmq.3 + 7 1839 c.1019_1019GC>G c.(1018-1020)ggcfs p.G340fs RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Frame_Shift_Del_p.G124fs NM_006084 NP_006075 Q00978 IRF9_HUMAN Homo sapiens interferon regulatory factor 9 (IRF9), mRNA. 340 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CAGGGCCTGGGCCCCCCACCG 0.522 KIAA0391 9692 broad.mit.edu 37 14 35593160 35593160 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:35593159_35593159CA>C uc001wsy.1 + 1 1068 c.708_708CA>C c.(706-708)atcfs p.I236fs KIAA0391_uc010tps.1_Frame_Shift_Del_p.I141fs|KIAA0391_uc001wsz.1_Frame_Shift_Del_p.I236fs|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN Homo sapiens KIAA0391 (KIAA0391), mRNA. 236 tRNA processing mitochondrion p.D235G(1) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) TAGAGGACATCAAAAAAGTTA 0.383 C14orf135 64430 broad.mit.edu 37 14 60591389 60591389 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:60591388_60591388CA>C uc001xer.4 + 7 2319 c.1797_1797CA>C c.(1795-1797)atcfs p.I599fs C14orf135_uc001xeq.2_Frame_Shift_Del_p.I599fs|C14orf135_uc010apm.3_Non-coding_Transcript NM_022495 NP_071940 Q63HM2 CN135_HUMAN Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA. 833 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) AGCCAACTATCAAAAAAGTAA 0.348 ZFP36L1 677 broad.mit.edu 37 14 69256455 69256455 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:69256454_69256454AC>A uc021rve.1 - 2 1114 c.1020_1020GT>T c.(1018-1020)ggtfs p.G340fs ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs NM_001244701 NP_001231630 Q07352 TISB_HUMAN Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA. 271 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGGGGAGCCACCCCCGGGCA 0.637 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) YLPM1 56252 broad.mit.edu 37 14 75230947 75230947 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr14:75230946_75230946GC>G uc001xqj.4 + 0 878 c.754_754GC>G c.(754-756)gccfs p.A252fs NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCACCGTCCGCCCCCCCTGG 0.577 TUBGCP5 114791 broad.mit.edu 37 15 22863109 22863109 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:22863108_22863108TA>T uc001yuq.2 + 14 2259 c.2129_2129TA>T c.(2128-2130)ctafs p.L710fs TUBGCP5_uc001yur.4_Frame_Shift_Del_p.L710fs|TUBGCP5_uc010axz.1_Frame_Shift_Del_p.L297fs NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 710 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ATGCAAACTCTAAAAAAAGAT 0.323 MAGEL2 54551 broad.mit.edu 37 15 23890069 23890069 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:23890068_23890068CG>C uc001ywj.4 - 0 2926 c.2822_2822CG>G c.(2821-2823)cgtfs p.R941fs NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) ACTCAGGCCACGGGGGGTGTT 0.657 GABRB3 2562 broad.mit.edu 37 15 26866684 26866684 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:26866683_26866683TG>T uc001zbb.3 - 5 512 c.409_splice c.e5-1 p.D137_splice GABRB3_uc021sgg.1_Splice_Site_p.D10_splice|GABRB3_uc021sgh.1_Splice_Site|GABRB3_uc001zaz.3_Splice_Site_p.D81_splice|GABRB3_uc001zba.3_Splice_Site_p.D81_splice|GABRB3_uc001zbc.3_Splice_Site NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 81 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel 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) GGTATAATCCTGGGGGGAAAA 0.443 DISP2 85455 broad.mit.edu 37 15 40659686 40659686 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:40659685_40659685AC>A uc001zlk.1 + 7 1461 c.1372_1372AC>A c.(1372-1374)accfs p.T458fs NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 458 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) CCGGCTGGCCACCCCCTGGGG 0.612 B2M 567 broad.mit.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - rs11553044 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:45003780_45003781ACT>A uc001zuc.3 + 0 96_97 c.36_37ACT>A c.(34-39)ctactcfs p.L12fs B2M_uc010uek.1_Frame_Shift_Del_p.L12fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L12fs NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 12 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 Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.L15fs*41(4)|p.A11fs*42(2)|p.L13F(2)|p.L12Q(1) 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) TGCTCGCGCTACTCTCTCTTTC 0.614 IL16 3603 broad.mit.edu 37 15 81592469 81592469 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr15:81592468_81592468TC>T uc021ssh.1 + 12 2902 c.2801_2801TC>T c.(2800-2802)ctcfs p.L934fs IL16_uc010blq.1_Frame_Shift_Del_p.L888fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Del_p.L976fs|IL16_uc002bgg.3_Frame_Shift_Del_p.L934fs|IL16_uc002bgi.1_Frame_Shift_Del_p.L324fs|IL16_uc002bgj.3_Frame_Shift_Del_p.L428fs|IL16_uc021ssi.1_Frame_Shift_Del_p.L233fs|IL16_uc002bgl.1_Frame_Shift_Del_p.L233fs|IL16_uc010unq.1_Frame_Shift_Del_p.L233fs NM_172217 NP_757366 Q14005 IL16_HUMAN Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA. 934 L -> F (in Ref. 1; AAD04636). immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CAGAAAACTCTCCCCCCTGGC 0.642 PPL 5493 broad.mit.edu 37 16 4944500 4944500 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:4944499_4944499TG>T uc002cyd.1 - 11 1453 c.1363_1363CA>A c.(1363-1365)acafs p.T455fs NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 455 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.T455fs*4(2) 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 TCAGGGTCTGTGGGGGGGATC 0.612 LOC81691 81691 broad.mit.edu 37 16 20844363 20844363 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:20844362_20844362CT>C uc002dhy.4 + 12 1675 c.1300_1300CT>C c.(1300-1302)cttfs p.L434fs ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Frame_Shift_Del_p.L434fs|LOC81691_uc002dhx.3_Frame_Shift_Del_p.L434fs NM_001199053 NP_001185982 Q96IC2 REXON_HUMAN Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA. 434 nucleolus RNA binding|exonuclease activity|nucleotide binding endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1) 18 TCAGAAGCTTCTTTTTTTGAC 0.388 PALB2 79728 broad.mit.edu 37 16 23647028 23647028 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:23647027_23647027GT>G uc002dlx.1 - 3 1040 c.840_840AC>C c.(838-840)aacfs p.N280fs NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 280 Interaction with BRCA1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding p.K279K(1) 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) TAAATCTAATGTTTTTTAGGT 0.393 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks IL27 246778 broad.mit.edu 37 16 28515117 28515117 + Splice_Site DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:28515116_28515116TG>T uc002dqc.3 - 3 228 c.205_splice c.e3-1 p.A69_splice NPIPL1_uc010vct.2_Intron NM_145659 NP_663634 Q8NEV9 IL27A_HUMAN Homo sapiens interleukin 27 (IL27), mRNA. 69 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 AGATTCCGCCTGGGGGGCAAG 0.642 ZNF48 197407 broad.mit.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:30409309_30409309GC>G uc002dya.2 + 1 1114 c.738_738GC>G c.(736-738)cagfs p.Q246fs ZNF48_uc021tgi.1_Frame_Shift_Del_p.Q246fs|ZNF48_uc021tgj.1_Frame_Shift_Del_p.Q123fs|ZNF48_uc021tgk.1_Frame_Shift_Del_p.Q246fs NM_152652 NP_001201836 Q96MX3 ZNF48_HUMAN Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA. 246 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 GGGGGGAGCAGCCCCCCCGAC 0.637 CDH16 1014 broad.mit.edu 37 16 66945906 66945906 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:66945905_66945905TG>T uc002eql.3 - 12 1881 c.1687_1687CA>A c.(1687-1689)aagfs p.K563fs CDH16_uc010cdy.3_Frame_Shift_Del_p.K563fs|CDH16_uc021tjx.1_Frame_Shift_Del_p.K563fs|CDH16_uc002eqm.3_Frame_Shift_Del_p.K466fs NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 563 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGGTCCAACTTGGGGGGTGGC 0.662 TMED6 146456 broad.mit.edu 37 16 69377458 69377458 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr16:69377457_69377457GA>G uc002exc.2 - 3 632 c.576_576TC>C c.(574-576)ttcfs p.F192fs NM_144676 NP_653277 Q8WW62 TMED6_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA. 192 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 ATTGGATAAGGAAAAAGTCAG 0.438 ABR 29 broad.mit.edu 37 17 970397 970397 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:970396_970396TG>T uc002fsd.3 - 9 1213 c.1103_1103CA>A c.(1102-1104)cagfs p.Q368fs ABR_uc002fse.3_Frame_Shift_Del_p.Q322fs|ABR_uc010vqg.2_Frame_Shift_Del_p.Q150fs|ABR_uc002fsg.3_Frame_Shift_Del_p.Q331fs|ABR_uc002fsh.1_Frame_Shift_Del_p.Q252fs NM_021962 NP_001153218 Q12979 ABR_HUMAN Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA. 368 PH. 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 GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGGGTGCACCTGGGGGCTGGC 0.567 LIG3 3980 broad.mit.edu 37 17 33310486 33310487 + Frame_Shift_Ins INS - - A TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:33310485_33310486C>CA uc002hik.2 + 1 590_591 c.461_462C>CA c.(460-462)acafs p.T154fs LIG3_uc002hii.3_Frame_Shift_Ins_p.T154fs|LIG3_uc002hij.3_Frame_Shift_Ins_p.T154fs|LIG3_uc010cth.1_Frame_Shift_Ins_p.T163fs NM_013975 NP_039269 P49916 DNLI3_HUMAN Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. 154 DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CGGGCCACCACAAAAAAAATCG 0.485 Other BER factors TAF15 8148 broad.mit.edu 37 17 34171886 34171887 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:34171885_34171886C>CG uc002hkd.3 + 14 1668_1669 c.1582_1583C>CG c.(1582-1584)cggfs p.R528fs TAF15_uc002hkc.3_Frame_Shift_Ins_p.R525fs NM_139215 NP_631961 Q92804 RBP56_HUMAN Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA. 528 21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) agACAGAAGCCGGGGGGGCTAT 0.609 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" TADA2A 6871 broad.mit.edu 37 17 35837046 35837047 + Frame_Shift_Del DEL TA TA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:35837045_35837046CTA>C uc002hnv.3 + 15 1659_1660 c.1290_1291CTA>C c.(1288-1293)atctatfs p.I430fs TADA2A_uc002hnt.3_Frame_Shift_Del_p.I430fs|TADA2A_uc002hnw.3_Frame_Shift_Del_p.I329fs NM_001488 NP_001479 O75478 TAD2A_HUMAN Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA. 430 SWIRM. histone H3 acetylation|transcription from RNA polymerase II promoter PCAF complex|chromosome DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 CCCGGAAAATCTATGATTTCCT 0.436 BECN1 8678 broad.mit.edu 37 17 40970673 40970675 + In_Frame_Del DEL ATG ATG - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:40970672_40970674CATG>C uc002ibo.3 - 5 511_513 c.376_378CATG>G c.(376-378)atg>G p.M126del BECN1_uc010whb.1_In_Frame_Del_p.M39del|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_In_Frame_Del_p.M126del NM_003766 NP_003757 Q14457 BECN1_HUMAN Homo sapiens beclin 1, autophagy related (BECN1), mRNA. 126 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TCTGGCCCGACATGATGTCAAAA 0.537 GPATCH8 23131 broad.mit.edu 37 17 42477205 42477207 + In_Frame_Del DEL CTT CTT - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:42477204_42477206CCTT>C uc002igw.2 - 7 2458_2460 c.2239_2241AAGG>G c.(2239-2241)agg>G p.R749del GPATCH8_uc002igv.2_In_Frame_Del_p.R671del|GPATCH8_uc010wiz.2_In_Frame_Del_p.R671del NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA. 749 Poly-Arg. 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) GAGCTCTCCGCCTTCTTCTTGGT 0.567 RNF43 54894 broad.mit.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:56435160_56435160AC>A uc002iwf.3 - 7 3933 c.1977_1977GT>T c.(1975-1977)ggtfs p.G659fs RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN Homo sapiens ring finger protein 43 (RNF43), mRNA. 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCC 0.597 TEX14 56155 broad.mit.edu 37 17 56663316 56663317 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:56663315_56663316T>TG uc010dcz.2 - 17 3052_3053 c.2934_2935A>CA c.(2932-2937)cccattfs p.P978fs TEX14_uc002iwr.2_Frame_Shift_Ins_p.P972fs|TEX14_uc002iws.2_Frame_Shift_Ins_p.P972fs|TEX14_uc010dda.2_Frame_Shift_Ins_p.P752fs NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 978 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) GGGCTCCTAATGGGGGGCTGCA 0.520 TBX2 6909 broad.mit.edu 37 17 59479234 59479235 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr17:59479233_59479234C>CG uc010wox.2 + 1 865_866 c.584_585C>CG c.(583-585)acgfs p.T195fs TBX2_uc002ize.3_Frame_Shift_Ins_p.T185fs|TBX2_uc002izg.3_Frame_Shift_Ins_p.T41fs NM_005994 NP_005985 Q13207 TBX2_HUMAN Homo sapiens T-box 2 (TBX2), mRNA. 195 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 AGCCCAGCCACGGGGGAGCAGT 0.599 NPC1 4864 broad.mit.edu 37 18 21118569 21118569 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:21118568_21118568TC>T uc002kum.4 - 19 3253 c.2979_2979GA>A c.(2977-2979)ggafs p.G993fs NPC1_uc010xaz.2_Frame_Shift_Del_p.G726fs NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 993 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCATGAAGTCTCCCCCCTGAG 0.562 DSG4 147409 broad.mit.edu 37 18 28989503 28989505 + In_Frame_Del DEL AGA AGA - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:28989502_28989504GAGA>G uc002kwr.2 + 12 2156_2158 c.2021_2023GAGA>G c.(2020-2025)ggagaa>gGaa p.E675del DSG4_uc002kwq.2_In_Frame_Del_p.E675del NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 675 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTGAGGGCGGAGAAGGAGTGAT 0.542 WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:54358512_54358512CG>C uc002lgk.1 + 7 994 c.783_783CG>C c.(781-783)accfs p.T261fs WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 261 p.T261P(1) 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) AGACATGGACCGGGGGGGACT 0.418 ADNP2 22850 broad.mit.edu 37 18 77894261 77894261 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr18:77894260_77894260TC>T uc002lnw.3 + 3 1419 c.964_964TC>T c.(964-966)tccfs p.S322fs NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 322 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A325fs*59(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCTCACTCATTCCCCCCCTGC 0.642 MUC16 94025 broad.mit.edu 37 19 9060189 9060190 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:9060188_9060189A>AG uc002mkp.3 - 2 27461_27462 c.27257_27258T>CT c.(27256-27258)cctfs p.P9086fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9088 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 ATGTAGCCCCAGGAGAACCTGT 0.465 MUC16 94025 broad.mit.edu 37 19 9083008 9083008 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:9083007_9083007GT>G uc002mkp.3 - 0 9012 c.8808_8808AC>C c.(8806-8808)aacfs p.N2936fs NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2937 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 TTGCCCTTGGGTTTTTTTCTG 0.483 CACNA1A 773 broad.mit.edu 37 19 13414640 13414640 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:13414639_13414639GC>G uc002mwy.3 - 15 2282 c.2046_2046GC>C c.(2044-2046)ggcfs p.G682fs CACNA1A_uc010dzc.2_Frame_Shift_Del_p.G208fs|CACNA1A_uc010xnd.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc021ups.1_Frame_Shift_Del_p.G682fs|CACNA1A_uc010xne.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc010dze.2_Frame_Shift_Del_p.G682fs|CACNA1A_uc021upt.1_Frame_Shift_Del_p.G683fs NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 683 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) CGCCCTGCACGCCCCCCTGAG 0.557 ZNF43 7594 broad.mit.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:21992086_21992086AT>A uc002nqj.3 - 3 883 c.753_753AT>T c.(751-753)aatfs p.N251fs ZNF43_uc002nql.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.N245fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.N245fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.N181fs NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATCTAGTATAATTTTTTTTAT 0.348 LRFN3 79414 broad.mit.edu 37 19 36431074 36431074 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:36431073_36431073AC>A uc002oco.3 + 1 1198 c.746_746AC>A c.(745-747)aacfs p.N249fs NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 249 LRRCT. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTTGGCGGGAACCCCCTGCAC 0.731 ZNF569 148266 broad.mit.edu 37 19 37905171 37905171 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:37905170_37905170GA>G uc002ogj.3 - 8 1394 c.462_462TC>C c.(460-462)ttcfs p.F154fs ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Frame_Shift_Del_p.F130fs NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN Homo sapiens zinc finger protein 569 (ZNF569), mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTCTGGAAGGGAAAAAATCAG 0.328 CIC 23152 broad.mit.edu 37 19 42796883 42796884 + Frame_Shift_Ins INS - - C TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:42796882_42796883G>GC uc002otf.1 + 13 3380_3381 c.3340_3341G>GC c.(3340-3342)gccfs p.A1114fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 1114 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S1117fs*34(1) 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) GCCATCCCAGGCCCCCCCAAGC 0.683 """Mis, F, S""" oligodendroglioma MAMSTR 284358 broad.mit.edu 37 19 49218106 49218107 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr19:49218105_49218106T>TG uc002pkg.2 - 5 547_548 c.485_486A>CA c.(484-486)ccafs p.P162fs MAMSTR_uc002pkf.2_Frame_Shift_Ins_p.P59fs NM_001130915 NP_872380 Q6ZN01 MASTR_HUMAN Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA. 162 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CCAACTTGTGTGGGGGGGGCGA 0.569 TGM6 343641 broad.mit.edu 37 20 2384126 2384126 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:2384125_2384125AC>A uc002wfy.1 + 7 1133 c.1072_1072AC>A c.(1072-1074)accfs p.T358fs TGM6_uc010gal.1_Frame_Shift_Del_p.T358fs NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 358 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TCTGGATGCCACCCCCCAGGA 0.577 C20orf160 140706 broad.mit.edu 37 20 30602812 30602812 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:30602811_30602811TC>T uc002wxf.2 + 1 148 c.135_135TC>T c.(133-135)tatfs p.Y45fs NM_080625 NP_542192 Q9NUG4 CT160_HUMAN Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA. 45 central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 23 TGCCCCTTTATCCCCCCGACT 0.627 C20orf152 140894 broad.mit.edu 37 20 34572693 34572693 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:34572692_34572692AT>A uc002xer.1 + 5 864 c.708_708AT>A c.(706-708)gaafs p.E236fs C20orf152_uc002xes.1_Frame_Shift_Del_p.E236fs|C20orf152_uc010gfp.1_Non-coding_Transcript NM_080834 NP_543024 Q96M20 CT152_HUMAN Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA. 236 breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1) 18 Breast(12;0.00631) ATCGGTTTGAATTTTTTAGGT 0.443 CTCFL 140690 broad.mit.edu 37 20 56064027 56064027 + RNA DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:56064026_56064026CA>C uc010giu.3 - 3 c.657_657TG>G CTCFL_uc010giv.3_Non-coding_Transcript Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CAAGTTTGCACAAAAAATGCA 0.453 EDN3 1908 broad.mit.edu 37 20 57897444 57897445 + Frame_Shift_Ins INS - - A rs11570344 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr20:57897443_57897444G>GA uc002yap.3 + 3 928_929 c.559_560G>GA c.(559-561)gaafs p.E187fs EDN3_uc002yao.1_Intron|EDN3_uc002yaq.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yar.3_Frame_Shift_Ins_p.E187fs|EDN3_uc002yas.3_Intron NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 187 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) AAGGACGGCAGAAAAAACAGAC 0.490 CXADR 1525 broad.mit.edu 37 21 18933045 18933045 + Frame_Shift_Del DEL A A - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:18933044_18933044TA>T uc002yki.3 + 4 820 c.596_596TA>T c.(595-597)gtafs p.V199fs CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Intron|CXADR_uc002ykj.2_Frame_Shift_Del_p.V199fs NM_001338 NP_001329 P78310 CXAR_HUMAN Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA. 199 Ig-like C2-type 2. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) GTTATATCTGTAAAAAATGCC 0.388 SH3BGR 6450 broad.mit.edu 37 21 40823995 40823995 + Frame_Shift_Del DEL G G - rs35950439 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:40823994_40823994TG>T uc002yya.3 + 0 215 c.161_161TG>T c.(160-162)ttgfs p.L54fs SH3BGR_uc002yxz.3_Intron NM_007341 NP_001001713 P55822 SH3BG_HUMAN Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA. 54 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AGGGGTGTGTTGGGGGGAGTC 0.557 TRPM2 7226 broad.mit.edu 37 21 45811295 45811295 + Frame_Shift_Del DEL C C - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr21:45811294_45811294AC>A uc010gpt.1 + 10 1680 c.1580_1580AC>A c.(1579-1581)gacfs p.D527fs TRPM2_uc002zet.1_Frame_Shift_Del_p.D527fs|TRPM2_uc002zeu.1_Frame_Shift_Del_p.D527fs|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Frame_Shift_Del_p.D527fs|TRPM2_uc002zex.1_Frame_Shift_Del_p.D313fs|TRPM2_uc002zey.1_Frame_Shift_Del_p.D40fs NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 527 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 GAGAACCTGGACCCCTCCTGC 0.627 SERPIND1 3053 broad.mit.edu 37 22 21138420 21138420 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chr22:21138419_21138419TG>T uc002ztc.2 + 1 1136 c.1133_1133TG>T c.(1132-1134)gtgfs p.V378fs PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Frame_Shift_Del_p.V350fs NM_000185 NP_000176 P05546 HEP2_HUMAN Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA. 350 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGAATACGTGGGGGGCATC 0.542 OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SHROOM2 357 broad.mit.edu 37 X 9900744 9900744 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:9900743_9900743CG>C uc004csu.1 + 5 3510 c.3420_3420CG>C c.(3418-3420)agcfs p.S1140fs SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1140 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AGCATGTGAGCGGGGACGCAT 0.677 PPEF1 5475 broad.mit.edu 37 X 18779675 18779676 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:18779674_18779675C>CT uc004cyq.3 + 8 1019_1020 c.538_539C>CT c.(538-540)cttfs p.L180fs PPEF1_uc004cyp.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc004cyr.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc004cys.3_Frame_Shift_Ins_p.L180fs|PPEF1_uc011mja.2_Frame_Shift_Ins_p.L115fs|PPEF1_uc011mjb.2_Frame_Shift_Ins_p.L124fs NM_006240 NP_006231 O14829 PPE1_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA. 180 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) ACTGGATGATCTTTTTTTGATC 0.342 PHEX 5251 broad.mit.edu 37 X 22112144 22112144 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:22112143_22112143CT>C uc004dah.3 + 6 978 c.775_775CT>C c.(775-777)cttfs p.L259fs PHEX_uc011mjr.2_Frame_Shift_Del_p.L259fs|PHEX_uc011mjs.2_Frame_Shift_Del_p.L162fs NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 259 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TACTGCCGTGCTTTTAGGAGC 0.398 TAF7L 54457 broad.mit.edu 37 X 100533996 100533997 + Frame_Shift_Ins INS - - T TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:100533995_100533996C>CT uc004ehb.3 - 6 774_775 c.748_749G>AG c.(748-750)agcfs p.S250fs TAF7L_uc004eha.3_Frame_Shift_Ins_p.S164fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.S164fs NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 250 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 AGTAAAGCTGCTTTTTTCCATT 0.282 SMARCA1 6594 broad.mit.edu 37 X 128605245 128605245 + Frame_Shift_Del DEL T T - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:128605244_128605244CT>C uc011muk.1 - 19 2615 c.2502_2502AG>G c.(2500-2502)aagfs p.K834fs SMARCA1_uc004eun.4_Frame_Shift_Del_p.K834fs|SMARCA1_uc004eup.4_Frame_Shift_Del_p.K822fs|SMARCA1_uc011mul.1_Frame_Shift_Del_p.K822fs NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 834 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 CTCCATCAATCTTTTTTTGCT 0.358 FGF13 2258 broad.mit.edu 37 X 137939823 137939824 + Frame_Shift_Ins INS - - G TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:137939822_137939823A>AG uc004faq.3 - 1 244_245 c.68_69T>CT c.(67-69)cctfs p.P23fs FGF13_uc011mwi.2_5'UTR|FGF13_uc004far.3_5'UTR|FGF13_uc011mwj.2_Frame_Shift_Ins_p.P23fs|FGF13_uc011mwk.2_Intron NM_001139502 NP_001132974 Q92913 FGF13_HUMAN Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 5, mRNA. 0 MAPKKK cascade|cell-cell signaling|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CCTGTGTGCCAGGGGGGGCGTC 0.431 MECP2 4204 broad.mit.edu 37 X 153296569 153296570 + Frame_Shift_Ins INS - - C rs62846063 TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:153296568_153296569A>AC uc004fjv.2 - 3 936_937 c.710_711T>GT c.(709-711)ggtfs p.G237fs MECP2_uc004fjw.2_Frame_Shift_Ins_p.G249fs NM_004992 NP_004983 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. 237 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGTGGCCCCACCCCCCTCAGC 0.594 FUNDC2 65991 broad.mit.edu 37 X 154274835 154274835 + Frame_Shift_Del DEL G G - TCGA-BR-6852-01A-11D-1882-08 TCGA-BR-6852-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f6202ce-fb91-4f83-9730-d202b75ea0ec a2afd338-d1be-4d45-9492-fb7ddf655adb g.chrX:154274834_154274834TG>T uc004fmw.3 + 2 485 c.335_335TG>T c.(334-336)gtgfs p.V112fs NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA. 112 mitochondrion breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCAACAGCTGTGGGAGGTGGA 0.423